Plce1 MGI Mouse Gene Detail - MGI:1921305 - phospholipase C, epsilon 1

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Plce1 Gene Detail

Symbol

Plce1
Name

phospholipase C, epsilon 1
Synonyms

4933403A21Rik, PLCepsilon

Feature Type

protein coding gene
IDs

MGI:1921305
NCBI Gene: 74055
Alliance

gene page
Transcription Start Sites

6 TSS
Candidate for QTL

6 QTL

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Sequence Map

Chr19:38469557-38773474 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 33.16 cM
Mapping Data

3 experiments

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SNPs within 2kb

9986 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1921305	protein coding gene	Chr19:38469438-38773549 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025093	protein coding gene	Chr19:37536972-37861280 (+)
A/J	MGP_AJ_G0025069	protein coding gene	Chr19:35705343-36032646 (+)
AKR/J	MGP_AKRJ_G0025037	protein coding gene	Chr19:36906192-37222159 (+)
BALB/cJ	MGP_BALBcJ_G0025067	protein coding gene	Chr19:35815345-36132650 (+)
C3H/HeJ	MGP_C3HHeJ_G0024826	protein coding gene	Chr19:37001401-37341519 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025508	protein coding gene	Chr19:38614721-38945688 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022927	protein coding gene	Chr19:35056937-35353084 (+)
CAST/EiJ	MGP_CASTEiJ_G0024293	protein coding gene	Chr19:36874639-37199269 (+)
CBA/J	MGP_CBAJ_G0024803	protein coding gene	Chr19:40418546-40778361 (+)
DBA/2J	MGP_DBA2J_G0024935	protein coding gene	Chr19:35560314-35867866 (+)
FVB/NJ	MGP_FVBNJ_G0024896	protein coding gene	Chr19:35384431-35698478 (+)
LP/J	MGP_LPJ_G0025021	protein coding gene	Chr19:37621088-37952960 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024927	protein coding gene	Chr19:40175424-40509820 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025566	protein coding gene	Chr19:37025363-37352077 (+)
PWK/PhJ	MGP_PWKPhJ_G0024045	protein coding gene	Chr19:35427765-35744257 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023845	protein coding gene	Chr19:35857031-36189411 (+)
WSB/EiJ	MGP_WSBEiJ_G0024360	protein coding gene	Chr19:37111124-37441471 (+)

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Human Ortholog

PLCE1, phospholipase C epsilon 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PLCE1, phospholipase C epsilon 1
Synonyms

NPHS3, PLCE, PPLC
Links

HGNC:17175

NCBI Gene ID: 51196

UniProt: Q9P212
Chr Location

10q23.33; chr10:93993931-94332823 (+) GRCh38

MGI Vertebrate Homology

Plce1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PLCE1
Gene Tree

Plce1

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Diseases

4 with human PLCE1 associations

				Human Disease	Mouse Models
				gastric adenocarcinoma IDs gastric adenocarcinoma DOID:3717 NCI:C4004 UMLS_CUI:C0278701
				nephrotic syndrome IDs nephrotic syndrome DOID:1184 ICD10CM:N04 ICD9CM:581 MESH:D009404 NCI:C34845 UMLS_CUI:C0027726
				nephrotic syndrome type 2 IDs nephrotic syndrome type 2 DOID:0080379 OMIM:600995
				nephrotic syndrome type 3 IDs nephrotic syndrome type 3 DOID:0080382 OMIM:610725

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

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Phenotype Summary

26 phenotypes from 4 alleles in 5 genetic backgrounds
30 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

20
Endonuclease-mediated

4
Gene trapped

13
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

111 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.

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All GO Annotations

64
GO References

11

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

855
Tissues

133
cDNA Data

64
Literature Summary

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase plce1

ZFIN plce1

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All Sequences

62
RefSeq

8
UniProt

4
CCDS

CCDS37973.1

Ensembl

ENSMUSG00000024998 (Evidence)
NCBI Gene

74055

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000024998	Ensembl Gene Model \| MGI Sequence Detail	303918	C57BL/6J	± kb
	transcript	ENSMUST00000182267	Ensembl \| MGI Sequence Detail	7234	Not Applicable
	polypeptide	ENSMUSP00000138330	Ensembl \| MGI Sequence Detail	2296	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012835 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1

(term hierarchy)
EC

3.1.4.11
InterPro Domains

IPR046973 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, catalytic domain

IPR046974 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, EF-hand domain

IPR028398 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, RA domain 2

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR011992 EF-hand domain pair

IPR000909 Phosphatidylinositol-specific phospholipase C, X domain

IPR001192 Phosphoinositide phospholipase C family

IPR015359 Phosphoinositide-specific phospholipase C, EF-hand-like domain

IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain

IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily

IPR000159 Ras-associating domain

IPR036964 Ras guanine-nucleotide exchange factor, catalytic domain superfamily

IPR023578 Ras guanine nucleotide exchange factor domain superfamily

IPR001895 Ras guanine-nucleotide exchange factors catalytic domain

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 66

cDNA 64

Primer pair 1

Other 1

Microarray probesets 4

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Summaries

All 70

Developmental Gene Expression 7

Gene Ontology 11

Phenotypes 30
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Plce1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr156263	Chr19:38469446-38469461 (+)	-103 bp
Tssr5497	Chr19:38469462-38469481 (+)	-85 bp
Tssr156264	Chr19:38469505-38469568 (+)	-20 bp
Tssr156265	Chr19:38469600-38469660 (+)	73 bp
Tssr156266	Chr19:38567457-38567472 (+)	97,908 bp
Tssr156267	Chr19:38723387-38723391 (+)	253,832 bp

Plce1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Afw8	Chr19, 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 Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Bglq13	Chr19, 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 Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Iba4	Chr19, 20.99 cM	Chr19:26305715-26305821	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 Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Nobq2	Chr19, 40.53 cM	Chr19:47897880-47897988	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 Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
T2dm2	Chr19, 50.72 cM	Chr19:55376050-55376167	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 Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Tanidd1	Chr19, 48.46 cM	Chr19:53752597-53752718	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 Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.

*cM position of peak correlated region/marker

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