Incidental Mutation 'R3933:Ppp2ca'
ID 308563
Institutional Source Beutler Lab
Gene Symbol Ppp2ca
Ensembl Gene ENSMUSG00000020349
Gene Name protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
Synonyms PP2A
MMRRC Submission 040920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3933 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 51989651-52013576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52010089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 232 (N232K)
Ref Sequence ENSEMBL: ENSMUSP00000020608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020608]
AlphaFold P63330
Predicted Effect probably damaging
Transcript: ENSMUST00000020608
AA Change: N232K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: N232K

DomainStartEndE-ValueType
PP2Ac 23 293 3.46e-155 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Meta Mutation Damage Score 0.9683 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A 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. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die before gastrulation and exhibit widespread degeneration. Mesoderm is not formed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,025,000 (GRCm39) probably benign Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pold3 T C 7: 99,770,608 (GRCm39) E8G probably damaging Het
Pomt1 G A 2: 32,135,631 (GRCm39) V332I probably benign Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Pwwp2b G A 7: 138,835,950 (GRCm39) V464I possibly damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Scai A T 2: 38,965,064 (GRCm39) D593E probably benign Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign Het
Other mutations in Ppp2ca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ppp2ca APN 11 52,012,776 (GRCm39) missense probably benign 0.02
IGL01767:Ppp2ca APN 11 52,008,882 (GRCm39) nonsense probably null
IGL01982:Ppp2ca APN 11 51,989,891 (GRCm39) missense probably benign
IGL03260:Ppp2ca APN 11 52,003,975 (GRCm39) missense probably damaging 0.96
R0539:Ppp2ca UTSW 11 52,008,989 (GRCm39) critical splice donor site probably null
R0788:Ppp2ca UTSW 11 52,003,969 (GRCm39) missense possibly damaging 0.92
R0855:Ppp2ca UTSW 11 52,012,752 (GRCm39) missense probably benign 0.01
R1539:Ppp2ca UTSW 11 52,011,800 (GRCm39) missense probably damaging 0.99
R1591:Ppp2ca UTSW 11 51,989,916 (GRCm39) missense possibly damaging 0.93
R1766:Ppp2ca UTSW 11 52,012,773 (GRCm39) missense probably benign
R2267:Ppp2ca UTSW 11 52,008,913 (GRCm39) missense probably damaging 1.00
R2268:Ppp2ca UTSW 11 52,008,913 (GRCm39) missense probably damaging 1.00
R4199:Ppp2ca UTSW 11 51,989,928 (GRCm39) missense probably benign
R4992:Ppp2ca UTSW 11 52,004,033 (GRCm39) missense possibly damaging 0.52
R5261:Ppp2ca UTSW 11 51,989,937 (GRCm39) missense probably benign
R5684:Ppp2ca UTSW 11 52,004,154 (GRCm39) missense probably damaging 1.00
R5729:Ppp2ca UTSW 11 52,008,856 (GRCm39) missense probably damaging 1.00
R5766:Ppp2ca UTSW 11 52,004,014 (GRCm39) missense probably damaging 1.00
R7186:Ppp2ca UTSW 11 52,010,080 (GRCm39) missense possibly damaging 0.95
R8073:Ppp2ca UTSW 11 52,010,124 (GRCm39) missense possibly damaging 0.53
R9014:Ppp2ca UTSW 11 52,009,510 (GRCm39) missense probably damaging 1.00
R9800:Ppp2ca UTSW 11 52,008,910 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACTGCAAAAGTTCAGCACAC -3'
(R):5'- CTGAAGAGGGTTTAGCTCCC -3'

Sequencing Primer
(F):5'- AGTTCAGCACACATACTAAGAATG -3'
(R):5'- TAGCTCCCATGGCAGACTCTAG -3'
Posted On 2015-04-17