Incidental Mutation 'IGL02694:Ppp2r1a'
ID 303870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r1a
Ensembl Gene ENSMUSG00000007564
Gene Name protein phosphatase 2, regulatory subunit A, alpha
Synonyms protein phosphatase PP2A, PR65, PP2A, 6330556D22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02694
Quality Score
Status
Chromosome 17
Chromosomal Location 21165716-21186167 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 21171702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007708] [ENSMUST00000173658]
AlphaFold Q76MZ3
Predicted Effect probably benign
Transcript: ENSMUST00000007708
SMART Domains Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564

DomainStartEndE-ValueType
Pfam:HEAT 166 196 4.3e-6 PFAM
Pfam:HEAT_2 170 266 1.7e-8 PFAM
Pfam:HEAT 283 313 3.4e-5 PFAM
Pfam:HEAT_2 366 467 5.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173658
SMART Domains Protein: ENSMUSP00000133778
Gene: ENSMUSG00000007564

DomainStartEndE-ValueType
PDB:2PF4|D 1 72 3e-40 PDB
SCOP:d1b3ua_ 2 86 3e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 A G 7: 97,866,084 (GRCm39) I213T probably benign Het
Alox8 T A 11: 69,077,455 (GRCm39) T432S probably damaging Het
Col4a3 T C 1: 82,688,515 (GRCm39) probably benign Het
Cyp2c54 A G 19: 40,035,987 (GRCm39) Y308H possibly damaging Het
Dscam A G 16: 96,394,476 (GRCm39) V1942A probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fam13b A G 18: 34,584,259 (GRCm39) probably null Het
Gykl1 A G 18: 52,827,257 (GRCm39) H155R probably benign Het
Lmo7 T A 14: 102,124,606 (GRCm39) V355D probably damaging Het
Lrtm2 T A 6: 119,297,846 (GRCm39) D65V possibly damaging Het
Ly6g6f C T 17: 35,300,144 (GRCm39) V235M possibly damaging Het
Mlxipl G A 5: 135,152,872 (GRCm39) probably null Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or13a20 A G 7: 140,232,093 (GRCm39) N67S probably damaging Het
Or14a256 C T 7: 86,265,518 (GRCm39) V112I probably benign Het
Psmb2 A G 4: 126,603,351 (GRCm39) N193S probably benign Het
Rassf2 A T 2: 131,851,641 (GRCm39) Y34N possibly damaging Het
Ryr2 A G 13: 11,620,075 (GRCm39) F3841L probably damaging Het
Skint2 A G 4: 112,473,792 (GRCm39) probably benign Het
Spdl1 T C 11: 34,704,448 (GRCm39) I462V probably benign Het
Spopfm1 A G 3: 94,173,459 (GRCm39) M152V probably benign Het
Tlk2 A G 11: 105,112,061 (GRCm39) E138G probably benign Het
Vmn1r89 A G 7: 12,954,056 (GRCm39) E196G probably benign Het
Zfp142 A G 1: 74,609,307 (GRCm39) L1496P probably damaging Het
Zfp689 T C 7: 127,047,573 (GRCm39) D94G possibly damaging Het
Zfp944 A G 17: 22,558,899 (GRCm39) V116A probably benign Het
Other mutations in Ppp2r1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Ppp2r1a APN 17 21,181,840 (GRCm39) unclassified probably benign
IGL01815:Ppp2r1a APN 17 21,177,094 (GRCm39) missense probably benign 0.00
IGL01923:Ppp2r1a APN 17 21,185,731 (GRCm39) makesense probably null
IGL02411:Ppp2r1a APN 17 21,171,596 (GRCm39) splice site probably benign
IGL02742:Ppp2r1a APN 17 21,179,265 (GRCm39) missense probably benign 0.01
Altricial UTSW 17 21,174,979 (GRCm39) critical splice donor site probably null
Dolmas UTSW 17 21,180,893 (GRCm39) nonsense probably null
R0032:Ppp2r1a UTSW 17 21,165,846 (GRCm39) critical splice donor site probably benign
R0403:Ppp2r1a UTSW 17 21,177,303 (GRCm39) missense probably damaging 0.96
R1170:Ppp2r1a UTSW 17 21,171,593 (GRCm39) splice site probably benign
R1652:Ppp2r1a UTSW 17 21,176,236 (GRCm39) missense probably benign 0.03
R1857:Ppp2r1a UTSW 17 21,181,951 (GRCm39) missense possibly damaging 0.93
R2215:Ppp2r1a UTSW 17 21,182,005 (GRCm39) splice site probably null
R3800:Ppp2r1a UTSW 17 21,182,972 (GRCm39) missense possibly damaging 0.82
R4013:Ppp2r1a UTSW 17 21,171,609 (GRCm39) missense probably damaging 1.00
R4483:Ppp2r1a UTSW 17 21,176,072 (GRCm39) missense probably benign 0.05
R5014:Ppp2r1a UTSW 17 21,179,101 (GRCm39) splice site probably null
R5421:Ppp2r1a UTSW 17 21,176,968 (GRCm39) missense probably benign
R5615:Ppp2r1a UTSW 17 21,179,249 (GRCm39) missense probably benign 0.00
R5945:Ppp2r1a UTSW 17 21,179,675 (GRCm39) missense possibly damaging 0.81
R5986:Ppp2r1a UTSW 17 21,171,608 (GRCm39) missense probably damaging 1.00
R6466:Ppp2r1a UTSW 17 21,180,893 (GRCm39) nonsense probably null
R6727:Ppp2r1a UTSW 17 21,176,087 (GRCm39) missense probably benign 0.07
R6738:Ppp2r1a UTSW 17 21,174,979 (GRCm39) critical splice donor site probably null
R6934:Ppp2r1a UTSW 17 21,181,895 (GRCm39) missense possibly damaging 0.56
R7549:Ppp2r1a UTSW 17 21,182,944 (GRCm39) missense possibly damaging 0.95
R7904:Ppp2r1a UTSW 17 21,182,003 (GRCm39) critical splice donor site probably null
R7922:Ppp2r1a UTSW 17 21,174,879 (GRCm39) missense probably benign
R7998:Ppp2r1a UTSW 17 21,181,901 (GRCm39) missense possibly damaging 0.93
R8150:Ppp2r1a UTSW 17 21,179,700 (GRCm39) missense possibly damaging 0.75
R8204:Ppp2r1a UTSW 17 21,177,035 (GRCm39) missense probably benign 0.20
R9347:Ppp2r1a UTSW 17 21,181,877 (GRCm39) missense probably benign 0.18
R9352:Ppp2r1a UTSW 17 21,185,499 (GRCm39) critical splice acceptor site probably null
R9528:Ppp2r1a UTSW 17 21,176,153 (GRCm39) missense probably benign 0.21
R9712:Ppp2r1a UTSW 17 21,179,058 (GRCm39) missense probably damaging 0.99
R9772:Ppp2r1a UTSW 17 21,181,855 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16