Incidental Mutation 'R5945:Ppp2r1a'
ID 460590
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 044137-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5945 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 21165716-21186167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 21179675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 112 (H112D)
Ref Sequence ENSEMBL: ENSMUSP00000133334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007708] [ENSMUST00000147983] [ENSMUST00000173658]
AlphaFold Q76MZ3
Predicted Effect probably benign
Transcript: ENSMUST00000007708
AA Change: H340D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: H340D

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 noncoding transcript
Transcript: ENSMUST00000136975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139293
Predicted Effect possibly damaging
Transcript: ENSMUST00000147983
AA Change: H112D

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133334
Gene: ENSMUSG00000007564
AA Change: H112D

Pfam:HEAT 13 43 2.1e-5 PFAM
Pfam:HEAT 52 82 2.9e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173359
Predicted Effect probably benign
Transcript: ENSMUST00000173658
SMART Domains Protein: ENSMUSP00000133778
Gene: ENSMUSG00000007564

PDB:2PF4|D 1 72 3e-40 PDB
SCOP:d1b3ua_ 2 86 3e-12 SMART
Meta Mutation Damage Score 0.2178 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (101/101)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,601 (GRCm39) noncoding transcript Het
Abca13 C T 11: 9,243,398 (GRCm39) H1754Y probably benign Het
Abi1 T C 2: 22,929,977 (GRCm39) E34G probably damaging Het
Apobec3 C T 15: 79,782,047 (GRCm39) T19I probably damaging Het
Arel1 C A 12: 84,973,121 (GRCm39) V559L probably benign Het
Arhgef10 T C 8: 15,030,028 (GRCm39) probably null Het
Asb6 T C 2: 30,718,215 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,439 (GRCm39) V727A possibly damaging Het
Atp13a5 C A 16: 29,055,995 (GRCm39) R1100L probably benign Het
Atp6v1a A G 16: 43,920,309 (GRCm39) V429A probably damaging Het
Caml A G 13: 55,776,445 (GRCm39) Y228C probably damaging Het
Ccdc14 A G 16: 34,543,958 (GRCm39) E772G probably damaging Het
Ccdc96 A G 5: 36,643,194 (GRCm39) E400G probably damaging Het
Ces1h T A 8: 94,090,254 (GRCm39) E266V probably benign Het
Chd5 G T 4: 152,464,408 (GRCm39) Q1522H probably benign Het
CN725425 T A 15: 91,129,980 (GRCm39) I281N possibly damaging Het
Cngb3 A T 4: 19,283,579 (GRCm39) E62V probably null Het
Cops5 T A 1: 10,108,235 (GRCm39) probably benign Het
Crhr2 T A 6: 55,077,667 (GRCm39) I232F possibly damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Ddx31 T A 2: 28,749,902 (GRCm39) I308N probably damaging Het
Efcab14 T A 4: 115,613,664 (GRCm39) V204D probably damaging Het
Emsy T C 7: 98,268,590 (GRCm39) T484A probably damaging Het
Ep400 A T 5: 110,830,732 (GRCm39) I2257N unknown Het
Epb41l4a T A 18: 33,961,783 (GRCm39) Q420L possibly damaging Het
Fat4 A G 3: 39,037,355 (GRCm39) D3669G probably benign Het
Fmnl2 C A 2: 53,004,211 (GRCm39) T607K probably damaging Het
Glod4 T C 11: 76,125,297 (GRCm39) Y135C probably damaging Het
Gm10912 A G 2: 103,896,961 (GRCm39) I33M possibly damaging Het
Gm5592 T C 7: 40,865,036 (GRCm39) probably benign Het
Gria4 A G 9: 4,456,122 (GRCm39) L726P probably damaging Het
H2-M10.4 T C 17: 36,771,518 (GRCm39) E220G probably benign Het
Itga1 T G 13: 115,103,126 (GRCm39) N1102H probably benign Het
Itpk1 A G 12: 102,554,812 (GRCm39) I6T probably damaging Het
Kcnh4 T C 11: 100,636,148 (GRCm39) D833G probably damaging Het
Kdm1a T C 4: 136,296,012 (GRCm39) probably null Het
Kif24 G A 4: 41,428,670 (GRCm39) Q97* probably null Het
Klhl2 T C 8: 65,202,762 (GRCm39) I479V probably benign Het
Large1 T C 8: 73,578,828 (GRCm39) Y459C probably damaging Het
Lcn8 T G 2: 25,545,509 (GRCm39) L169R probably damaging Het
Loxl3 T G 6: 83,014,492 (GRCm39) S133R probably damaging Het
Lyzl4 A G 9: 121,413,529 (GRCm39) Y4H unknown Het
Marchf7 A G 2: 60,071,331 (GRCm39) K612E probably damaging Het
Mreg C T 1: 72,231,359 (GRCm39) G33D probably benign Het
Ms4a6c A C 19: 11,457,863 (GRCm39) probably benign Het
Nrbf2 G A 10: 67,103,299 (GRCm39) S268F possibly damaging Het
Oog4 T A 4: 143,164,293 (GRCm39) I341F probably benign Het
Or4k5 A G 14: 50,386,220 (GRCm39) V37A probably benign Het
Or5h26 A G 16: 58,988,482 (GRCm39) L8P probably benign Het
Or5h27 C T 16: 59,006,091 (GRCm39) V252I unknown Het
Or5l14 A T 2: 87,792,946 (GRCm39) C97S probably damaging Het
Pcdhb5 G A 18: 37,454,523 (GRCm39) R301Q probably benign Het
Podn T C 4: 107,878,910 (GRCm39) K174R possibly damaging Het
Pphln1 T C 15: 93,353,413 (GRCm39) probably null Het
Prmt5 A G 14: 54,752,344 (GRCm39) F151L possibly damaging Het
Ptch1 A T 13: 63,721,233 (GRCm39) probably benign Het
Rgl2 A G 17: 34,151,012 (GRCm39) probably null Het
Ryr2 A T 13: 11,675,008 (GRCm39) I3373N probably damaging Het
Scap A G 9: 110,213,664 (GRCm39) N1209S probably benign Het
Sin3b T C 8: 73,457,793 (GRCm39) S170P probably damaging Het
Slc22a4 A T 11: 53,886,854 (GRCm39) I296N probably damaging Het
Slco1a8 T A 6: 141,940,008 (GRCm39) N145I probably damaging Het
Slco2a1 T C 9: 102,923,989 (GRCm39) S68P probably damaging Het
Snx8 A G 5: 140,339,235 (GRCm39) C161R probably benign Het
Spryd3 C T 15: 102,026,630 (GRCm39) C347Y probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Strn3 T C 12: 51,676,279 (GRCm39) T333A probably benign Het
Swt1 T A 1: 151,286,921 (GRCm39) E190D probably benign Het
Tchh A T 3: 93,352,644 (GRCm39) I695F unknown Het
Tfap4 G A 16: 4,363,493 (GRCm39) S314L possibly damaging Het
Tigd3 G T 19: 5,941,894 (GRCm39) T412K probably benign Het
Tmem184b T A 15: 79,249,681 (GRCm39) probably null Het
Trpa1 T C 1: 14,968,359 (GRCm39) D469G probably benign Het
Tssk1 T C 16: 17,712,565 (GRCm39) F117L probably damaging Het
Tuba3b T A 6: 145,565,471 (GRCm39) M313K probably damaging Het
Tubgcp6 T C 15: 88,993,420 (GRCm39) probably null Het
Vav1 A G 17: 57,608,870 (GRCm39) K345E possibly damaging Het
Zdhhc4 G A 5: 143,310,641 (GRCm39) R64C probably damaging Het
Zfp280d T A 9: 72,269,614 (GRCm39) L892* probably null Het
Zfp46 T A 4: 136,014,528 (GRCm39) M3K probably damaging Het
Zfp607b C A 7: 27,401,841 (GRCm39) P99Q probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp990 T A 4: 145,264,613 (GRCm39) I537N probably damaging 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-28