Igf1r MGI Mouse Gene Detail - MGI:96433 - insulin-like growth factor I receptor

Symbol

Igf1r
Name

insulin-like growth factor I receptor
Synonyms

A330103N21Rik, CD221, hyft, IGF-1R, line 186

Feature Type

protein coding gene
IDs

MGI:96433
NCBI Gene: 16001
Alliance

gene page
Transcription Start Sites

27 TSS

Sequence Map

Chr7:67602575-67883416 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 37.27 cM
Mapping Data

23 experiments

SNPs within 2kb

7828 from dbSNP Build 142
Strain Annotations

18
RFLP

5

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96433	protein coding gene	Chr7:67601486-67883416 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032362	protein coding gene	Chr7:69239233-69522551 (+)
A/J	MGP_AJ_G0032341	protein coding gene	Chr7:67802426-68079791 (+)
AKR/J	MGP_AKRJ_G0032277	protein coding gene	Chr7:69235953-69519068 (+)
BALB/cJ	MGP_BALBcJ_G0032353	protein coding gene	Chr7:67546549-67823076 (+)
C3H/HeJ	MGP_C3HHeJ_G0032066	protein coding gene	Chr7:69925355-70220670 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032845	protein coding gene	Chr7:72184994-72467942 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029853	protein coding gene	Chr7:70649322-70926328 (+)
CAST/EiJ	MGP_CASTEiJ_G0031394	protein coding gene	Chr7:60593352-60901668 (+)
CBA/J	MGP_CBAJ_G0032032	protein coding gene	Chr7:74453486-74738617 (+)
DBA/2J	MGP_DBA2J_G0032187	protein coding gene	Chr7:66511368-66785386 (+)
FVB/NJ	MGP_FVBNJ_G0032142	protein coding gene	Chr7:66631675-66908676 (+)
LP/J	MGP_LPJ_G0032268	protein coding gene	Chr7:70459106-70737928 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032179	protein coding gene	Chr7:74654927-74945938 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032863	protein coding gene	Chr7:68606196-68896587 (+)
PWK/PhJ	MGP_PWKPhJ_G0031114	protein coding gene	Chr7:59549128-59848005 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030955	protein coding gene	Chr7:55625714-55929186 (+)
WSB/EiJ	MGP_WSBEiJ_G0031512	protein coding gene	Chr7:68941796-69223949 (+)

Human Ortholog

IGF1R, insulin like growth factor 1 receptor

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IGF1R, insulin like growth factor 1 receptor
Synonyms

CD221, IGFIR, IGFR, JTK13
Links

HGNC:5465

NCBI Gene ID: 3480

neXtProt AC: NX_P08069

UniProt: P08069
Chr Location

15q26.3; chr15:98648539-98964530 (+) GRCh38

MGI Vertebrate Homology

Igf1r stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: IGF1R
Protein SuperFamily

Insulin_receptor
Gene Tree

Igf1r

Diseases

15 with human IGF1R associations

				Human Disease	Mouse Models
				clear cell renal cell carcinoma IDs clear cell renal cell carcinoma DOID:4467 MESH:D002292 NCI:C4033 UMLS_CUI:C0279702
				dementia IDs dementia DOID:1307 ICD9CM:290.8 UMLS_CUI:C0154319
				hepatocellular carcinoma IDs hepatocellular carcinoma DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176
				high grade glioma IDs high grade glioma DOID:3070 DOID:2627 KEGG:05214 MESH:D005910 NCI:C3059 NCI:C4822 OMIM:PS137800 ORDO:182067 UMLS_CUI:C0017638 UMLS_CUI:C0555198
				IgA glomerulonephritis IDs IgA glomerulonephritis DOID:2986 EFO:0004194 MESH:D005922 NCI:C34643 OMIM:161950 UMLS_CUI:C0017661
				Lewy body dementia IDs Lewy body dementia DOID:12217 ICD10CM:G31.83 ICD9CM_2006:331.82 ICD9CM:331.82 MESH:D020961 NCI:C84826 OMIM:127750 UMLS_CUI:C0752347
				liver cirrhosis IDs liver cirrhosis DOID:5082 EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 UMLS_CUI:C0023890
				nephroblastoma IDs nephroblastoma DOID:2154 DOID:5177 DOID:5180 MESH:D009396 NCI:C27730 NCI:C3267 NCI:C6180 OMIM:194070 UMLS_CUI:C0027708 UMLS_CUI:C1332219 UMLS_CUI:C1333015
				neuroblastoma IDs neuroblastoma DOID:769 EFO:0000621 MESH:D009447 NCI:C3270 ORDO:635 UMLS_CUI:C0027819
				osteoporosis IDs osteoporosis DOID:11476 EFO:0003882 ICD10CM:M81.0 ICD9CM:733.0 ICD9CM:733.00 MESH:D010024 NCI:C3298 OMIM:166710 UMLS_CUI:C0029456
				pancreatic cancer IDs pancreatic cancer DOID:1793 DOID:14356 DOID:1797 DOID:3588 DOID:9859 ICD10CM:C25.0 ICD10CM:C25.1 ICD10CM:C25.2 ICD9CM:157.0 ICD9CM:157.1 ICD9CM:157.2 ICD9CM:157.8 KEGG:05212 MESH:D010190 NCI:C3305 ORDO:1333 ORDO:217074 UMLS_CUI:C0030297 UMLS_CUI:C0153458 UMLS_CUI:C0153459 UMLS_CUI:C0153460 UMLS_CUI:C0153463
				portal vein thrombosis IDs portal vein thrombosis DOID:11695 ICD10CM:I81 ICD9CM:452 NCI:C78565 UMLS_CUI:C0155773
				prostate adenocarcinoma IDs prostate adenocarcinoma DOID:2526 NCI:C2919 UMLS_CUI:C0007112
				toxic encephalopathy IDs toxic encephalopathy DOID:3602 MESH:D020258 NCI:C27961 UMLS_CUI:C0235032
				vascular dementia IDs vascular dementia DOID:8725 DOID:13915 ICD10CM:F01 ICD9CM:290.4 MESH:D015140 MESH:D015161 NCI:C34522 NCI:C34525 UMLS_CUI:C0011263 UMLS_CUI:C0011269

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

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Phenotype Summary

90 phenotypes from 8 alleles in 16 genetic backgrounds
48 phenotypes from multigenic genotypes
232 phenotype references

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

26
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

7
Gene trapped

4
Radiation induced

1
Targeted

12
Genomic Mutations

2 involving Igf1r
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

88 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia.

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All GO Annotations

163
GO References

38

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

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

932
Tissues

149
cDNA Data

142
Literature Summary

110

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA IGF1R

Xenbase igf1r

ZFIN igf1ra, igf1rb

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All Sequences

74
RefSeq

14
UniProt

4
CCDS

CCDS21355.1

Ensembl

ENSMUSG00000005533 (Evidence)
NCBI Gene

16001

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005533	Ensembl Gene Model \| MGI Sequence Detail	280842	C57BL/6J	± kb
transcript	ENSMUST00000005671	Ensembl \| MGI Sequence Detail	11409	Not Applicable
polypeptide	ENSMUSP00000005671	Ensembl \| MGI Sequence Detail	1369	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003273 insulin-like growth factor 1 receptor

(term hierarchy)
PDB

6PYH, 8EYR
EC

2.7.10.1
InterPro Domains

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR006211 Furin-like cysteine-rich domain

IPR006212 Furin-like repeat

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR013783 Immunoglobulin-like fold

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR000494 Receptor L-domain

IPR036941 Receptor L-domain superfamily

IPR050122 Receptor Tyrosine Kinase

IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain

IPR008266 Tyrosine-protein kinase, active site

IPR020635 Tyrosine-protein kinase, catalytic domain

IPR016246 Tyrosine-protein kinase, insulin-like receptor

IPR002011 Tyrosine-protein kinase, receptor class II, conserved site
GlyGen

Q60751 17 sites, 8 N-linked glycans (9 sites), 1 O-linked glycan (1 site)

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All nucleic 169

Genomic 1

cDNA 148

Primer pair 18

Other 2

Microarray probesets 8

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MGD-MRK-11229, MGI:1925023, MGI:3576016

Summaries

All 492

Developmental Gene Expression 110

Gene Ontology 38

Phenotypes 232
Earliest

J:9941 Sundaresan S, et al., Insulin-like growth factor I receptor gene is concordant with c-Fes protooncogene and mouse chromosome 7 in somatic cell hybrids. Somat Cell Mol Genet. 1989 Jul;15(4):373-6
Latest

J:353388 Douglas JC, et al., Normal Ovarian Function in Subfertile Mouse with Amhr2-Cre-Driven Ablation of Insr and Igf1r. Genes (Basel). 2024 May 12;15(5)

TSS for Igf1r:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67096	Chr7:67601517-67601520 (+)	-1,056 bp
Tssr67097	Chr7:67601605-67601658 (+)	-943 bp
Tssr67098	Chr7:67601752-67601813 (+)	-792 bp
Tssr67099	Chr7:67601830-67601840 (+)	-740 bp
Tssr67100	Chr7:67602117-67602176 (+)	-428 bp
Tssr67101	Chr7:67602183-67602198 (+)	-384 bp
Tssr67102	Chr7:67602565-67602576 (+)	-4 bp
Tssr67103	Chr7:67602625-67602670 (+)	73 bp
Tssr67104	Chr7:67608074-67608078 (+)	5,501 bp
Tssr67105	Chr7:67647965-67647968 (+)	45,392 bp
Tssr67106	Chr7:67708851-67708855 (+)	106,278 bp
Tssr67107	Chr7:67730887-67730892 (+)	128,315 bp
Tssr67108	Chr7:67752047-67752051 (+)	149,474 bp
Tssr67109	Chr7:67753903-67753907 (+)	151,330 bp
Tssr67110	Chr7:67783533-67783540 (+)	180,962 bp
Tssr67111	Chr7:67783553-67783560 (+)	180,982 bp
Tssr2295	Chr7:67783580-67783590 (+)	181,010 bp
Tssr67112	Chr7:67798312-67798330 (+)	195,746 bp
Tssr67113	Chr7:67798331-67798342 (+)	195,762 bp
Tssr67114	Chr7:67798709-67798713 (+)	196,136 bp
Tssr67115	Chr7:67839312-67839334 (+)	236,748 bp
Tssr67116	Chr7:67839660-67839671 (+)	237,091 bp
Tssr67117	Chr7:67839780-67839813 (+)	237,222 bp
Tssr67118	Chr7:67876327-67876339 (+)	273,758 bp
Tssr67119	Chr7:67876364-67876403 (+)	273,809 bp
Tssr67120	Chr7:67877857-67877870 (+)	275,289 bp
Tssr67121	Chr7:67880043-67880050 (+)	277,472 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24