Incidental Mutation 'R4013:Ppp2r1a'
ID 311836
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 040950-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4013 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 21165716-21186167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21171609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 28 (R28H)
Ref Sequence ENSEMBL: ENSMUSP00000133778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007708] [ENSMUST00000173658]
AlphaFold Q76MZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000007708
AA Change: R28H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: R28H

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 damaging
Transcript: ENSMUST00000173658
AA Change: R28H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133778
Gene: ENSMUSG00000007564
AA Change: R28H

DomainStartEndE-ValueType
PDB:2PF4|D 1 72 3e-40 PDB
SCOP:d1b3ua_ 2 86 3e-12 SMART
Meta Mutation Damage Score 0.9334 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 98% (47/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,668,104 (GRCm39) Q168R probably benign Het
Adgrg3 A G 8: 95,761,727 (GRCm39) probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Atp6v0a2 G A 5: 124,789,860 (GRCm39) V429M probably damaging Het
Cbln4 A T 2: 171,879,477 (GRCm39) M137K probably damaging Het
Cfap57 A G 4: 118,450,340 (GRCm39) V594A probably benign Het
Chd9 A G 8: 91,699,797 (GRCm39) E28G possibly damaging Het
Clip4 T A 17: 72,163,541 (GRCm39) C704* probably null Het
Col8a2 T A 4: 126,204,908 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,016,193 (GRCm39) T17A probably benign Het
Cyp4f14 G A 17: 33,135,853 (GRCm39) Q3* probably null Het
Cysltr2 A G 14: 73,267,005 (GRCm39) I235T probably damaging Het
Esp34 C A 17: 38,870,446 (GRCm39) C45* probably null Het
Gabrg2 T C 11: 41,862,707 (GRCm39) K126E possibly damaging Het
Gm4846 A C 1: 166,322,249 (GRCm39) probably null Het
Igsf21 T C 4: 139,764,780 (GRCm39) N165S possibly damaging Het
Kcnf1 A G 12: 17,225,994 (GRCm39) F76L probably benign Het
Kcns1 A G 2: 164,010,177 (GRCm39) V194A probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kdm5b A G 1: 134,555,067 (GRCm39) Y1325C possibly damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrrc63 A G 14: 75,335,731 (GRCm39) Y460H probably damaging Het
Myo15b G T 11: 115,762,282 (GRCm39) E1201* probably null Het
Ndor1 A T 2: 25,140,162 (GRCm39) I84K probably damaging Het
Ndst4 T A 3: 125,476,819 (GRCm39) Y15N probably damaging Het
Or51af1 T C 7: 103,141,840 (GRCm39) T82A probably benign Het
Or5ar1 A G 2: 85,671,725 (GRCm39) S137P probably damaging Het
Pik3r6 T A 11: 68,424,347 (GRCm39) D317E possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpn12 G A 5: 21,197,741 (GRCm39) P700L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc39a13 T C 2: 90,895,247 (GRCm39) probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Taok1 A T 11: 77,450,659 (GRCm39) L371H possibly damaging Het
Tas2r116 A G 6: 132,833,230 (GRCm39) H277R probably damaging Het
Treml4 G A 17: 48,571,837 (GRCm39) R80Q probably benign Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r52 G A 7: 9,904,603 (GRCm39) T412I probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Wdr93 T A 7: 79,418,159 (GRCm39) V294E possibly 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
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
Predicted Primers PCR Primer
(F):5'- GAAGTTCTGTCTTCCATTGCTAAC -3'
(R):5'- TGCTACAGTGGCATAGGGAAC -3'

Sequencing Primer
(F):5'- GTCTTCCATTGCTAACATTGCTAATG -3'
(R):5'- CAGTGGCATAGGGAACACTTATAATG -3'
Posted On 2015-04-29