Pnpla7 MGI Mouse Gene Detail - MGI:2385325 - patatin-like phospholipase domain containing 7

Symbol

Pnpla7
Name

patatin-like phospholipase domain containing 7
Synonyms

E430013P11Rik, MGC:6929, NRE

Feature Type

protein coding gene
IDs

MGI:2385325
NCBI Gene: 241274
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr2:24866045-24944069 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 16.88 cM
Mapping Data

1 experiment

SNPs within 2kb

2287 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2385325	protein coding gene	Chr2:24865235-24944084 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025417	protein coding gene	Chr2:22820318-22903887 (+)
A/J	MGP_AJ_G0025394	protein coding gene	Chr2:21930875-22017204 (+)
AKR/J	MGP_AKRJ_G0025364	protein coding gene	Chr2:22686660-22769047 (+)
BALB/cJ	MGP_BALBcJ_G0025390	protein coding gene	Chr2:22056169-22139267 (+)
C3H/HeJ	MGP_C3HHeJ_G0025151	protein coding gene	Chr2:22613466-22698772 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025834	protein coding gene	Chr2:23548318-23639465 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023245	protein coding gene	Chr2:20869512-20951759 (+)
CAST/EiJ	MGP_CASTEiJ_G0024614	protein coding gene	Chr2:22498760-22582131 (+)
CBA/J	MGP_CBAJ_G0025129	protein coding gene	Chr2:24361268-24469609 (+)
DBA/2J	MGP_DBA2J_G0025262	protein coding gene	Chr2:21793351-21875235 (+)
FVB/NJ	MGP_FVBNJ_G0025224	protein coding gene	Chr2:21535550-21613445 (+)
LP/J	MGP_LPJ_G0025348	protein coding gene	Chr2:22765137-22855169 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025255	protein coding gene	Chr2:24592650-24685424 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025893	protein coding gene	Chr2:22625601-22712391 (+)
PWK/PhJ	MGP_PWKPhJ_G0024362	protein coding gene	Chr2:21597875-21682342 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024162	protein coding gene	Chr2:22769021-22860986 (+)
WSB/EiJ	MGP_WSBEiJ_G0024683	protein coding gene	Chr2:22701374-22785981 (+)

Human Ortholog

PNPLA7, patatin like phospholipase domain containing 7

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNPLA7, patatin like phospholipase domain containing 7
Synonyms

C9orf111, NTEL1, NTE-R1
Links

HGNC:24768

NCBI Gene ID: 375775

neXtProt AC: NX_Q6ZV29

UniProt: Q6ZV29
Chr Location

9q34.3; chr9:137459952-137550402 (-) GRCh38

MGI Vertebrate Homology

Pnpla7 stringent orthology
1 human;1 mouse;1 rat;3 zebrafish
HCOP

vertebrate homology predictions: PNPLA7
Gene Tree

Pnpla7

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Phenotype Summary

25 phenotypes from 2 alleles in 2 genetic backgrounds
8 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

11
Endonuclease-mediated

3
Gene trapped

3
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

68 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit premature death, weight loss, kyphosis, thin muscle fibers, decreased subcutaneous and visceral adipose tissue, increased food intake, hyperactivity, increased oxygen consumption, decreased body temperature, and browned white adipose tissue morphology with altered choline metabolism.

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All GO Annotations

9
GO References

4

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

721
Tissues

9
cDNA Data

76
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnpla6

ZFIN pnpla7b

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All Sequences

123
RefSeq

48
UniProt

7
CCDS

CCDS50522.1

Ensembl

ENSMUSG00000036833 (Evidence)
NCBI Gene

241274

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036833	Ensembl Gene Model \| MGI Sequence Detail	78025	C57BL/6J	± kb
transcript	ENSMUST00000045295	Ensembl \| MGI Sequence Detail	4574	Not Applicable
polypeptide	ENSMUSP00000044078	Ensembl \| MGI Sequence Detail	1352	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000012947 patatin-like phospholipase domain-containing protein 7

(term hierarchy)
EC

3.1.1.-, 3.1.1.5
InterPro Domains

IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase

IPR000595 Cyclic nucleotide-binding domain

IPR018490 Cyclic nucleotide-binding domain superfamily

IPR050301 Neuropathy target esterase

IPR002641 Patatin-like phospholipase domain

IPR014710 RmlC-like jelly roll fold
GlyGen

A2AJ88 1 site, 1 N-linked glycan (1 site)

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All nucleic 77

cDNA 77

Microarray probesets 4

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MGI:2442947

Summaries

All 34

Developmental Gene Expression 2

Gene Ontology 4

Phenotypes 8
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:333442 Hirabayashi T, et al., Hepatic phosphatidylcholine catabolism driven by PNPLA7 and PNPLA8 supplies endogenous choline to replenish the methionine cycle with methyl groups. Cell Rep. 2023 Jan 30;42(2):111940

TSS for Pnpla7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr16635	Chr2:24865203-24865231 (+)	-828 bp
Tssr16636	Chr2:24865235-24865248 (+)	-803 bp
Tssr16637	Chr2:24865320-24865332 (+)	-719 bp
Tssr16638	Chr2:24865348-24865358 (+)	-692 bp
Tssr16639	Chr2:24866039-24866055 (+)	2 bp
Tssr16640	Chr2:24866058-24866122 (+)	45 bp
Tssr16641	Chr2:24866129-24866152 (+)	96 bp
Tssr16642	Chr2:24866192-24866204 (+)	153 bp
Tssr16643	Chr2:24867933-24867943 (+)	1,893 bp
Tssr16644	Chr2:24873688-24873697 (+)	7,648 bp
Tssr16645	Chr2:24882644-24882663 (+)	16,609 bp
Tssr16646	Chr2:24884397-24884406 (+)	18,357 bp
Tssr16647	Chr2:24915622-24915627 (+)	49,580 bp
Tssr428	Chr2:24937983-24937994 (+)	71,944 bp
Tssr16648	Chr2:24941654-24941696 (+)	75,630 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)
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