Pigv MGI Mouse Gene Detail - MGI:2442480 - phosphatidylinositol glycan anchor biosynthesis, class V

Symbol

Pigv
Name

phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms

D430024F16Rik

Feature Type

protein coding gene
IDs

MGI:2442480
NCBI Gene: 230801
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr4:133387698-133399958 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 66.25 cM
Mapping Data

2 experiments

SNPs within 2kb

523 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442480	protein coding gene	Chr4:133387071-133401498 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028903	protein coding gene	Chr4:135950752-135962942 (-)
A/J	MGP_AJ_G0028862	protein coding gene	Chr4:130243546-130255970 (-)
AKR/J	MGP_AKRJ_G0028814	protein coding gene	Chr4:133947230-133959440 (-)
BALB/cJ	MGP_BALBcJ_G0028885	protein coding gene	Chr4:130882999-130895645 (-)
C3H/HeJ	MGP_C3HHeJ_G0028599	protein coding gene	Chr4:134202602-134214798 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029327	protein coding gene	Chr4:140821940-140834177 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026598	protein coding gene	Chr4:123307526-123319713 (-)
CAST/EiJ	MGP_CASTEiJ_G0028032	protein coding gene	Chr4:132311979-132325709 (-)
CBA/J	MGP_CBAJ_G0028564	protein coding gene	Chr4:144511634-144527098 (-)
DBA/2J	MGP_DBA2J_G0028713	protein coding gene	Chr4:130665522-130677699 (-)
FVB/NJ	MGP_FVBNJ_G0028681	protein coding gene	Chr4:129556733-129570460 (-)
LP/J	MGP_LPJ_G0028814	protein coding gene	Chr4:136055076-136067364 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028706	protein coding gene	Chr4:149002940-149016069 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029365	protein coding gene	Chr4:134368083-134380343 (-)
PWK/PhJ	MGP_PWKPhJ_G0027752	protein coding gene	Chr4:127382425-127394754 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027578	protein coding gene	Chr4:130203752-130216315 (-)
WSB/EiJ	MGP_WSBEiJ_G0028111	protein coding gene	Chr4:134552422-134565610 (-)

Human Ortholog

PIGV, phosphatidylinositol glycan anchor biosynthesis class V

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PIGV, phosphatidylinositol glycan anchor biosynthesis class V
Synonyms

GPI-MT-II, HPMRS1, PIG-V
Links

HGNC:26031

NCBI Gene ID: 55650

UniProt: Q9NUD9
Chr Location

1p36.11; chr1:26787054-26800659 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PIGV
Gene Tree

Pigv

Diseases

1 with human PIGV associations

				Human Disease	Mouse Models
				hyperphosphatasia with impaired intellectual development syndrome 1 IDs hyperphosphatasia with impaired intellectual development syndrome 1 DOID:0070433 OMIM:239300 UMLS_CUI:C4551502

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

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
20 images
15 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

38
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

31
Radiation induced

1
Targeted

2
Genomic Mutations

4 involving Pigv
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, are runted, have thymus hypoplasia and show craniofacial and kidney defects.

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All GO Annotations

20
GO References

7

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

806
Tissues

95
cDNA Data

25
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 pigv

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All Sequences

50
RefSeq

10
UniProt

1
CCDS

CCDS18755.1, CCDS51322.1

Ensembl

ENSMUSG00000043257 (Evidence)
NCBI Gene

230801

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043257	Ensembl Gene Model \| MGI Sequence Detail	12261	C57BL/6J	± kb
transcript	ENSMUST00000062118	Ensembl \| MGI Sequence Detail	3979	Not Applicable
polypeptide	ENSMUSP00000050647	Ensembl \| MGI Sequence Detail	493	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012709 GPI mannosyltransferase 2

(term hierarchy)
EC

2.4.1.-
InterPro Domains

IPR007315 GPI mannosyltransferase 2

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All nucleic 25

cDNA 25

Microarray probesets 4

Summaries

All 41

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 15
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:299612 Rodriguez de Los Santos M, et al., A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proc Natl Acad Sci U S A. 2021 Jan 12;118(2):e2014481118

TSS for Pigv:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr43795	Chr4:133401378-133401426 (-)	-1,444 bp
Tssr43794	Chr4:133400527-133400553 (-)	-582 bp
Tssr43793	Chr4:133400448-133400471 (-)	-502 bp
Tssr43792	Chr4:133400293-133400313 (-)	-345 bp
Tssr43791	Chr4:133399912-133399963 (-)	20 bp
Tssr43790	Chr4:133393982-133393989 (-)	5,972 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 03/18/2025 MGI 6.24