Incidental Mutation 'IGL02694:Ppp2r1a'
ID303870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r1a
Ensembl Gene ENSMUSG00000007564
Gene Nameprotein phosphatase 2, regulatory subunit A, alpha
SynonymsPR65, PP2A, 6330556D22Rik, protein phosphatase PP2A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02694
Quality Score
Status
Chromosome17
Chromosomal Location20945311-20965916 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 20951440 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007708] [ENSMUST00000173658]
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: 98,216,877 I213T probably benign Het
Alox8 T A 11: 69,186,629 T432S probably damaging Het
Col4a3 T C 1: 82,710,794 probably benign Het
Cyp2c54 A G 19: 40,047,543 Y308H possibly damaging Het
Dscam A G 16: 96,593,276 V1942A probably benign Het
F11 T C 8: 45,252,159 Y115C probably damaging Het
Fam13b A G 18: 34,451,206 probably null Het
Gm4778 A G 3: 94,266,152 M152V probably benign Het
Gykl1 A G 18: 52,694,185 H155R probably benign Het
Lmo7 T A 14: 101,887,170 V355D probably damaging Het
Lrtm2 T A 6: 119,320,885 D65V possibly damaging Het
Ly6g6f C T 17: 35,081,168 V235M possibly damaging Het
Mlxipl G A 5: 135,124,018 probably null Het
Olfr294 C T 7: 86,616,310 V112I probably benign Het
Olfr53 A G 7: 140,652,180 N67S probably damaging Het
Olfr736 A G 14: 50,392,800 I15V probably benign Het
Psmb2 A G 4: 126,709,558 N193S probably benign Het
Rassf2 A T 2: 132,009,721 Y34N possibly damaging Het
Ryr2 A G 13: 11,605,189 F3841L probably damaging Het
Skint2 A G 4: 112,616,595 probably benign Het
Spdl1 T C 11: 34,813,621 I462V probably benign Het
Tlk2 A G 11: 105,221,235 E138G probably benign Het
Vmn1r89 A G 7: 13,220,129 E196G probably benign Het
Zfp142 A G 1: 74,570,148 L1496P probably damaging Het
Zfp689 T C 7: 127,448,401 D94G possibly damaging Het
Zfp944 A G 17: 22,339,918 V116A probably benign Het
Other mutations in Ppp2r1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Ppp2r1a APN 17 20961578 unclassified probably benign
IGL01815:Ppp2r1a APN 17 20956832 missense probably benign 0.00
IGL01923:Ppp2r1a APN 17 20965469 makesense probably null
IGL02411:Ppp2r1a APN 17 20951334 splice site probably benign
IGL02742:Ppp2r1a APN 17 20959003 missense probably benign 0.01
Altricial UTSW 17 20954717 critical splice donor site probably null
Dolmas UTSW 17 20960631 nonsense probably null
R0032:Ppp2r1a UTSW 17 20945584 critical splice donor site probably benign
R0403:Ppp2r1a UTSW 17 20957041 missense probably damaging 0.96
R1170:Ppp2r1a UTSW 17 20951331 splice site probably benign
R1652:Ppp2r1a UTSW 17 20955974 missense probably benign 0.03
R1857:Ppp2r1a UTSW 17 20961689 missense possibly damaging 0.93
R2215:Ppp2r1a UTSW 17 20961743 splice site probably null
R3800:Ppp2r1a UTSW 17 20962710 missense possibly damaging 0.82
R4013:Ppp2r1a UTSW 17 20951347 missense probably damaging 1.00
R4483:Ppp2r1a UTSW 17 20955810 missense probably benign 0.05
R5014:Ppp2r1a UTSW 17 20958839 splice site probably null
R5421:Ppp2r1a UTSW 17 20956706 missense probably benign
R5615:Ppp2r1a UTSW 17 20958987 missense probably benign 0.00
R5945:Ppp2r1a UTSW 17 20959413 missense possibly damaging 0.81
R5986:Ppp2r1a UTSW 17 20951346 missense probably damaging 1.00
R6466:Ppp2r1a UTSW 17 20960631 nonsense probably null
R6727:Ppp2r1a UTSW 17 20955825 missense probably benign 0.07
R6738:Ppp2r1a UTSW 17 20954717 critical splice donor site probably null
R6934:Ppp2r1a UTSW 17 20961633 missense possibly damaging 0.56
R7549:Ppp2r1a UTSW 17 20962682 missense possibly damaging 0.95
R7904:Ppp2r1a UTSW 17 20961741 critical splice donor site probably null
R7922:Ppp2r1a UTSW 17 20954617 missense probably benign
R7998:Ppp2r1a UTSW 17 20961639 missense possibly damaging 0.93
R8150:Ppp2r1a UTSW 17 20959438 missense possibly damaging 0.75
R8204:Ppp2r1a UTSW 17 20956773 missense probably benign 0.20
Posted On2015-04-16