Incidental Mutation 'R8150:Ppp2r1a'
ID 632929
Institutional Source Beutler Lab
Gene Symbol Ppp2r1a
Ensembl Gene ENSMUSG00000007564
Gene Name protein phosphatase 2, regulatory subunit A, alpha
Synonyms protein phosphatase PP2A, PR65, PP2A, 6330556D22Rik
MMRRC Submission 067576-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8150 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 21165716-21186167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21179700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 348 (V348G)
Ref Sequence ENSEMBL: ENSMUSP00000007708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007708] [ENSMUST00000147983] [ENSMUST00000173658]
AlphaFold Q76MZ3
PDB Structure Crystal structure of a protein phosphatase 2A (PP2A) holoenzyme. [X-RAY DIFFRACTION]
Crystal structure of the full-length simian virus 40 small t antigen complexed with the protein phosphatase 2A Aalpha subunit [X-RAY DIFFRACTION]
Structural Basis of PP2A and Sgo interaction [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007708
AA Change: V348G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: V348G

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 possibly damaging
Transcript: ENSMUST00000147983
AA Change: V120G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133334
Gene: ENSMUSG00000007564
AA Change: V120G

DomainStartEndE-ValueType
Pfam:HEAT 13 43 2.1e-5 PFAM
Pfam:HEAT 52 82 2.9e-5 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
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,538,635 (GRCm39) M129L probably benign Het
Aadacl2fm1 A G 3: 59,843,558 (GRCm39) D84G probably damaging Het
Abca2 T C 2: 25,337,393 (GRCm39) I2416T probably damaging Het
Abca3 A G 17: 24,615,522 (GRCm39) D871G probably benign Het
Akap9 C T 5: 4,011,982 (GRCm39) T895I probably damaging Het
Aldh8a1 A G 10: 21,271,444 (GRCm39) E390G probably damaging Het
Ank2 T A 3: 126,741,162 (GRCm39) D1574V Het
Blmh T C 11: 76,859,455 (GRCm39) V352A probably benign Het
Cacna1i T C 15: 80,259,540 (GRCm39) L1270P probably damaging Het
Ccdc80 T A 16: 44,947,792 (GRCm39) H923Q probably damaging Het
Cdc27 G A 11: 104,406,286 (GRCm39) H610Y probably damaging Het
Cep126 T C 9: 8,101,791 (GRCm39) I248V probably benign Het
Ces5a T C 8: 94,257,430 (GRCm39) N125S probably damaging Het
Chd3 G A 11: 69,254,510 (GRCm39) H201Y probably benign Het
Cpeb1 T C 7: 81,007,152 (GRCm39) T292A probably damaging Het
Gli2 G A 1: 118,763,558 (GRCm39) T1531I probably damaging Het
Gm6871 T C 7: 41,197,185 (GRCm39) T7A Het
Kank1 A G 19: 25,388,163 (GRCm39) D612G possibly damaging Het
Lhcgr AT ATT 17: 89,049,677 (GRCm39) 615 probably null Het
Mfsd6 T A 1: 52,747,800 (GRCm39) D355V probably benign Het
Myo7a T C 7: 97,712,846 (GRCm39) K1710E probably benign Het
Or13d1 C G 4: 52,970,788 (GRCm39) H56D probably damaging Het
Or52ae7 A G 7: 103,119,459 (GRCm39) D71G probably damaging Het
Pcdha8 G A 18: 37,126,264 (GRCm39) V249M probably damaging Het
Pglyrp3 A G 3: 91,933,790 (GRCm39) D145G probably benign Het
Pkhd1l1 A G 15: 44,410,055 (GRCm39) K2521E possibly damaging Het
Pld3 A G 7: 27,232,086 (GRCm39) V398A probably damaging Het
Plxnb1 A T 9: 108,941,146 (GRCm39) T1642S probably damaging Het
Prdm2 C A 4: 142,859,303 (GRCm39) C1329F possibly damaging Het
Ric8a G T 7: 140,441,269 (GRCm39) G423V probably damaging Het
Rnf17 A G 14: 56,658,593 (GRCm39) D94G probably benign Het
Serpina3f T C 12: 104,185,769 (GRCm39) F325L probably damaging Het
Sin3a T A 9: 57,034,568 (GRCm39) V1247E possibly damaging Het
Skint5 C A 4: 113,798,087 (GRCm39) M165I probably benign Het
Slc19a3 T G 1: 83,000,216 (GRCm39) Y267S probably damaging Het
Slc22a27 A T 19: 7,887,390 (GRCm39) F196Y possibly damaging Het
Slc5a4b A T 10: 75,939,680 (GRCm39) I152N possibly damaging Het
Tbc1d9 T A 8: 83,982,519 (GRCm39) V768E probably damaging Het
Tex15 T A 8: 34,063,534 (GRCm39) M988K probably benign Het
Top2b T A 14: 16,393,291 (GRCm38) F317I probably damaging Het
Wfdc8 A T 2: 164,439,455 (GRCm39) L309* probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp949 C T 9: 88,452,053 (GRCm39) T541I probably benign Het
Zkscan16 T A 4: 58,952,407 (GRCm39) I235N 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
IGL02694:Ppp2r1a APN 17 21,171,702 (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
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
Predicted Primers PCR Primer
(F):5'- TGCCCTGCCTATGAAAAGCAG -3'
(R):5'- GCATGTCTGACAAGAACGAGTG -3'

Sequencing Primer
(F):5'- CCTGCCTATGAAAAGCAGAAGACTG -3'
(R):5'- TGAACAAGCAGACACTTTTGCCTG -3'
Posted On 2020-06-30