Lepr MGI Mouse Gene Detail - MGI:104993 - leptin receptor

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Lepr Gene Detail

Symbol

Lepr
Name

leptin receptor
Synonyms

Leprb, LEPROT, leptin receptor gene-related protein, Modb1, obese-like, obl, Obr, OB-RGRP

Feature Type

protein coding gene
IDs

MGI:104993
NCBI Gene: 16847
Alliance

gene page
Transcription Start Sites

8 TSS
Candidate for QTL

5 QTL

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Sequence Map

Chr4:101574601-101672549 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 46.96 cM
Mapping Data

26 experiments

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SNPs within 2kb

2478 from dbSNP Build 142
Strain Annotations

18
PCR

2
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_104993	protein coding gene	Chr4:101574393-101676375 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028495	protein coding gene	Chr4:102035017-102133442 (+)
A/J	MGP_AJ_G0028458	protein coding gene	Chr4:98469344-98556097 (+)
AKR/J	MGP_AKRJ_G0028405	protein coding gene	Chr4:100847814-100940547 (+)
BALB/cJ	MGP_BALBcJ_G0028476	protein coding gene	Chr4:98686364-98780446 (+)
C3H/HeJ	MGP_C3HHeJ_G0028189	protein coding gene	Chr4:101658146-101748029 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028915	protein coding gene	Chr4:105886442-105978637 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026207	protein coding gene	Chr4:93738476-93827797 (+)
CAST/EiJ	MGP_CASTEiJ_G0027629	protein coding gene	Chr4:99445243-99612951 (+)
CBA/J	MGP_CBAJ_G0028158	protein coding gene	Chr4:109217703-109320032 (+)
DBA/2J	MGP_DBA2J_G0028308	protein coding gene	Chr4:98161318-98253235 (+)
FVB/NJ	MGP_FVBNJ_G0028275	protein coding gene	Chr4:97005246-97096556 (+)
LP/J	MGP_LPJ_G0028408	protein coding gene	Chr4:102339642-102438731 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028303	protein coding gene	Chr4:114751153-114854079 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028953	protein coding gene	Chr4:101110668-101268560 (+)
PWK/PhJ	MGP_PWKPhJ_G0027354	protein coding gene	Chr4:96342329-96428860 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027176	protein coding gene	Chr4:98557873-98643336 (+)
WSB/EiJ	MGP_WSBEiJ_G0027707	protein coding gene	Chr4:101275652-101449429 (+)

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Human Ortholog

LEPR, leptin receptor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LEPR, leptin receptor
Synonyms

CD295, LEP-R, LEPRD, OB-R, OBR
Links

HGNC:6554

NCBI Gene ID: 3953

neXtProt AC: NX_P48357

UniProt: P48357
Chr Location

1p31.3; chr1:65420652-65641559 (+) GRCh38

MGI Vertebrate Homology

Lepr stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LEPR
Gene Tree

Lepr

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Diseases

3 with Lepr mouse models; 11 with human LEPR associations

Human Disease

Mouse Models

Human and Mouse genes associated with disease

Human and Mouse genes associated with disease

metabolic dysfunction-associated steatotic liver disease

IDs

View 1 model

IDs

View 21 models

type 2 diabetes mellitus

IDs

View 8 models

Human gene associated with disease

chronic obstructive pulmonary disease

IDs

coronary artery disease

IDs

dilated cardiomyopathy

IDs

hepatocellular carcinoma

IDs

IDs

metabolic dysfunction-associated steatohepatitis

IDs

obstructive sleep apnea

IDs

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

16 with disease annotations

References

28 with disease annotations

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Phenotype Summary

334 phenotypes from 42 alleles in 73 genetic backgrounds
113 phenotypes from multigenic genotypes
6 images
2457 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

71
Chemically induced (ENU)

13
Chemically induced (other)

2
Endonuclease-mediated

11
Radiation induced

1
Spontaneous

16
Targeted

25
Transgenic

3
Genomic Mutations

7 involving Lepr
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

122 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting.

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All GO Annotations

58
GO References

21

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1109
Tissues

165
cDNA Data

30
Literature Summary

37

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase lepr

ZFIN lepr

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All Sequences

79
RefSeq

12
UniProt

6
CCDS

CCDS18397.1, CCDS51239.1, CCDS51240.1

Ensembl

ENSMUSG00000057722 (Evidence)
NCBI Gene

16847

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000057722	Ensembl Gene Model \| MGI Sequence Detail	97949	C57BL/6J	± kb
	transcript	ENSMUST00000037552	Ensembl \| MGI Sequence Detail	4127	Not Applicable
	polypeptide	ENSMUSP00000037385	Ensembl \| MGI Sequence Detail	1162	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000001875 leptin receptor

(term hierarchy)
PDB

7Z3P, 7Z3R, 8AV2, 8AVB, 8AVC, 8AVD, 8B7Q, 8DH8, 8DH9, 8DHA
InterPro Domains

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR010457 Immunoglobulin C2-set-like, ligand-binding

IPR007110 Immunoglobulin-like domain

IPR013783 Immunoglobulin-like fold

IPR041182 Leptin receptor, immunoglobulin-like domain

IPR003529 Long hematopoietin receptor, Gp130 family 2, conserved site

IPR003531 Short hematopoietin receptor, family 1, conserved site

IPR050379 Type I Cytokine Receptor
GlyGen

P48356 16 sites, 5 N-linked glycans (7 sites)

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All nucleic 66

Genomic 24

cDNA 30

Primer pair 10

Other 2

Microarray probesets 6

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MGD-MRK-12969, MGD-MRK-31066, MGD-MRK-8799

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Summaries

All 2673

Developmental Gene Expression 37

Diseases 28

Gene Ontology 21

Phenotypes 2457
Earliest

J:31691 Falconer DS, et al., Adipose, a new inherited obesity of the mouse. J Hered. 1959;50(6):290-292
Latest

J:357565 Cooper PO, et al., G-protein-coupled receptor 84 regulates acute inflammation in normal and diabetic skin wounds. Cell Rep. 2024 Jun 25;43(6):114288

TSS for Lepr:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38014	Chr4:101574651-101574659 (+)	54 bp
Tssr38015	Chr4:101574779-101574790 (+)	184 bp
Tssr38016	Chr4:101574830-101574841 (+)	235 bp
Tssr38017	Chr4:101575002-101575035 (+)	418 bp
Tssr38018	Chr4:101575059-101575070 (+)	464 bp
Tssr38019	Chr4:101575093-101575107 (+)	499 bp
Tssr1241	Chr4:101585719-101585723 (+)	11,120 bp
Tssr38020	Chr4:101633435-101633442 (+)	58,838 bp

Lepr is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bglq4	Chr4, 33.96 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Dob1	Chr4, syntenic	Chr4:101574601-123127211	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Nidd1	Chr4, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Tafat	Chr4, 74.75 cM	Chr4:141621281-141621387	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Triglq1	Chr4, 10.61 cM	Chr4:25683240-25683429	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.

*cM position of peak correlated region/marker

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