Pnpla8 MGI Mouse Gene Detail - MGI:1914702 - patatin-like phospholipase domain containing 8

Symbol

Pnpla8
Name

patatin-like phospholipase domain containing 8
Synonyms

1200006O19Rik, iPLA2 gamma

Feature Type

protein coding gene
IDs

MGI:1914702
NCBI Gene: 67452
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr12:44315916-44362718 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 20.71 cM
Mapping Data

2 experiments

SNPs within 2kb

926 from dbSNP Build 142
Strain Annotations

27

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914702	protein coding gene	Chr12:44268153-44369315 (+)
129S1/SvImJ	ENSMUSG00200010932	protein coding gene	Chr12:36240372-36240684 (+)
129S1/SvImJ	ENSMUSGG00200054728	protein coding gene	Chr12:36241105-36269887 (+)
A/J	ENSMUSG00195016586	protein coding gene	Chr12:38853122-38853434 (+)
A/J	ENSMUSGG00195055132	protein coding gene	Chr12:38853855-38879550 (+)
AKR/J	ENSMUSG00220004943	protein coding gene	Chr12:36870795-36871107 (+)
AKR/J	ENSMUSGG00220054728	protein coding gene	Chr12:36871528-36897223 (+)
BALB/cJ	ENSMUSG00180003476	protein coding gene	Chr12:37840226-37840538 (+)
BALB/cJ	ENSMUSGG00180055434	protein coding gene	Chr12:37840959-37866656 (+)
C3H/HeJ	ENSMUSGG00175054772	protein coding gene	Chr12:40908548-40934243 (+)
C3H/HeJ	ENSMUSG00175016981	protein coding gene	Chr12:40907815-40908127 (+)
C57BL/6NJ	ENSMUSG00215009049	protein coding gene	Chr12:37269963-37270275 (+)
C57BL/6NJ	ENSMUSGG00215055700	protein coding gene	Chr12:37270696-37299477 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017725	protein coding gene	Chr12:40282971-40360639 (+)
CAST/EiJ	no annotation
CBA/J	ENSMUSGG00210054967	protein coding gene	Chr12:37383174-37408869 (+)
CBA/J	ENSMUSG00210016041	protein coding gene	Chr12:37382441-37382753 (+)
DBA/2J	ENSMUSGG00185057817	protein coding gene	Chr12:39392128-39417827 (+)
DBA/2J	ENSMUSG00185019648	protein coding gene	Chr12:39391395-39391707 (+)
FVB/NJ	ENSMUSG00205001248	protein coding gene	Chr12:37254611-37254923 (+)
FVB/NJ	ENSMUSGG00205054050	protein coding gene	Chr12:37255344-37284125 (+)
JF1/MsJ	no annotation
LP/J	ENSMUSGG00230055684	protein coding gene	Chr12:46382171-46410952 (+)
LP/J	ENSMUSG00230009471	protein coding gene	Chr12:46381438-46381750 (+)
NOD/ShiLtJ	ENSMUSGG00190054870	protein coding gene	Chr12:36394909-36420608 (+)
NOD/ShiLtJ	ENSMUSG00190003565	protein coding gene	Chr12:36394176-36394488 (+)
NZO/HlLtJ	ENSMUSG00225031077	protein coding gene	Chr12:48600058-48600370 (+)
NZO/HlLtJ	ENSMUSGG00225055647	protein coding gene	Chr12:48600791-48629571 (+)
PWK/PhJ	no annotation
SPRET/EiJ	ENSMSPG00010001901	protein coding gene	Chr12:38720439-38761763 (+)
WSB/EiJ	no annotation

Human Ortholog

PNPLA8, patatin like domain 8, phospholipase A2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNPLA8, patatin like domain 8, phospholipase A2
Synonyms

IPLA2-2, IPLA2G, iPLA2gamma, MMLA, PNPLA-gamma
Links

HGNC:28900

NCBI Gene ID: 50640

UniProt: Q9NP80
Chr Location

7q31.1; chr7:108470417-108569666 (-) GRCh38

MGI Vertebrate Homology

Pnpla8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PNPLA8
Gene Tree

Pnpla8

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Phenotype Summary

16 phenotypes from 1 allele in 2 genetic backgrounds
28 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

16
Endonuclease-mediated

3
Gene trapped

9
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit some female-specific embryonic lethality, reduced body weight and temperature, cold intolerance, decreased exercise tolerance and decreased mitochondria function.

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All GO Annotations

60
GO References

12

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

597
cDNA Data

16

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnpla8

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All Sequences

79
RefSeq

4
UniProt

8
CCDS

CCDS36436.1

Ensembl

ENSMUSG00000036257 (Evidence)
NCBI Gene

67452

			Length	Strain/Species	Flank
genomic	67452	NCBI Gene Model \| MGI Sequence Detail	46803	C57BL/6J	± kb
transcript	NM_026164	RefSeq \| MGI Sequence Detail	4425	C57BL/6
polypeptide	Q8K1N1	UniProt \| EBI \| MGI Sequence Detail	776	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000012948 calcium-independent phospholipase A2-gamma

(term hierarchy)
EC

3.1.1.-, 3.1.1.5
InterPro Domains

IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase

IPR002641 Patatin-like phospholipase domain

IPR045217 Patatin-like phospholipase domain containing protein 8-like
GlyGen

Q8K1N1 2 sites

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All nucleic 18

cDNA 18

Microarray probesets 10

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MGI:2144844

Summaries

All 57

Gene Ontology 12

Phenotypes 28
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:359130 Cybulsky AV, et al., Genetic deletion of calcium-independent phospholipase A2gamma protects mice from diabetic nephropathy. PLoS One. 2024;19(10):e0311404

TSS for Pnpla8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113360	Chr12:44315928-44316010 (+)	53 bp
Tssr113361	Chr12:44316024-44316031 (+)	112 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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