Ppp2r1a MGI Mouse Gene Detail - MGI:1926334 - protein phosphatase 2, regulatory subunit A, alpha

Symbol

Ppp2r1a
Name

protein phosphatase 2, regulatory subunit A, alpha
Synonyms

6330556D22Rik, PP2A, PR65, protein phosphatase PP2A

Feature Type

protein coding gene
IDs

MGI:1926334
NCBI Gene: 51792
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr17:21165716-21186167 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 11.40 cM, cytoband A3.2
Mapping Data

3 experiments

SNPs within 2kb

658 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926334	protein coding gene	Chr17:21165573-21186178 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023219	protein coding gene	Chr17:19653529-19674096 (+)
A/J	MGP_AJ_G0023186	protein coding gene	Chr17:18862580-18883145 (+)
AKR/J	MGP_AKRJ_G0023156	protein coding gene	Chr17:18927321-18947945 (+)
BALB/cJ	MGP_BALBcJ_G0023185	protein coding gene	Chr17:19038708-19059275 (+)
C3H/HeJ	MGP_C3HHeJ_G0022946	protein coding gene	Chr17:19290307-19310924 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023628	protein coding gene	Chr17:20204757-20225350 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021123	protein coding gene	Chr17:16464850-16484735 (+)
CAST/EiJ	MGP_CASTEiJ_G0022459	protein coding gene	Chr17:18958143-18978879 (+)
CBA/J	MGP_CBAJ_G0022921	protein coding gene	Chr17:20985145-21005760 (+)
DBA/2J	MGP_DBA2J_G0023054	protein coding gene	Chr17:18538419-18558986 (+)
FVB/NJ	MGP_FVBNJ_G0023021	protein coding gene	Chr17:18284563-18305231 (+)
LP/J	MGP_LPJ_G0023132	protein coding gene	Chr17:19606948-19627515 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023041	protein coding gene	Chr17:20897567-20918158 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023667	protein coding gene	Chr17:19246527-19267094 (+)
PWK/PhJ	MGP_PWKPhJ_G0022206	protein coding gene	Chr17:17364416-17382750 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022027	protein coding gene	Chr17:17509455-17530110 (+)
WSB/EiJ	MGP_WSBEiJ_G0022519	protein coding gene	Chr17:19415099-19435756 (+)

Human Ortholog

PPP2R1A, protein phosphatase 2 scaffold subunit Aalpha

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PPP2R1A, protein phosphatase 2 scaffold subunit Aalpha
Synonyms

HJS2, MRD36, PP2AA, PP2A-Aalpha, PP2AAALPHA, PR65A
Links

HGNC:9302

NCBI Gene ID: 5518

neXtProt AC: NX_P30153

UniProt: P30153
Chr Location

19q13.41; chr19:52170936-52229518 (+) GRCh38

MGI Vertebrate Homology

Ppp2r1a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PPP2R1A
Gene Tree

Ppp2r1a

Diseases

1 with human PPP2R1A associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 36 IDs autosomal dominant intellectual developmental disorder 36 DOID:0070066 OMIM:616362

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

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Phenotype Summary

10 phenotypes from 4 alleles in 5 genetic backgrounds
34 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

15
Endonuclease-mediated

2
Gene trapped

2
Spontaneous

1
Targeted

9
Transgenic

1
Genomic Mutations

1 involving Ppp2r1a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted allele that remove exons 5 and 6 exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased benzopyrene-induced lung tumors.

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All GO Annotations

55
GO References

18

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

939
Tissues

151
cDNA Data

530
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ppp2r1a

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All Sequences

61
RefSeq

2
UniProt

5
CCDS

CCDS28432.1

Ensembl

ENSMUSG00000007564 (Evidence)
NCBI Gene

51792

			Length	Strain/Species	Flank
genomic	51792	NCBI Gene Model \| MGI Sequence Detail	20452	C57BL/6J	± kb
transcript	NM_016891	RefSeq \| MGI Sequence Detail	2256	C57BL/6
polypeptide	Q76MZ3	UniProt \| EBI \| MGI Sequence Detail	589	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000013134 serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform

(term hierarchy)
PDB

2IAE, 2PF4, 3FGA, 6EF4
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR000357 HEAT repeat

IPR021133 HEAT, type 2

IPR051023 Protein Phosphatase 2A Regulatory Subunit A
GlyGen

Q76MZ3 1 site, 1 O-linked glycan (1 site)

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All nucleic 533

cDNA 530

Primer pair 3

Microarray probesets 3

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MGI:1923432

Summaries

All 107

Developmental Gene Expression 13

Gene Ontology 18

Phenotypes 34
Earliest

J:84774 Dunn LC, Studies of the genetic variability in populations of wild house mice. II. Analysis of eight additional alleles at locus T. Genetics. 1957;42:299-311
Latest

J:355261 Rehmani T, et al., SLMAP3 is essential for neurulation through mechanisms involving cytoskeletal elements, ABP, and PCP. Life Sci Alliance. 2024 Dec;7(12)

TSS for Ppp2r1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr142863	Chr17:21165595-21165617 (+)	-110 bp
Tssr142864	Chr17:21165669-21165770 (+)	4 bp
Tssr5026	Chr17:21175895-21175899 (+)	10,181 bp
Tssr142865	Chr17:21176215-21176244 (+)	10,514 bp
Tssr142866	Chr17:21177282-21177305 (+)	11,578 bp
Tssr142867	Chr17:21181902-21181929 (+)	16,200 bp
Tssr142868	Chr17:21185814-21185818 (+)	20,100 bp
Tssr142869	Chr17:21185842-21185886 (+)	20,148 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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