Incidental Mutation 'R3933:Ppp2ca'
ID308563
Institutional Source Beutler Lab
Gene Symbol Ppp2ca
Ensembl Gene ENSMUSG00000020349
Gene Nameprotein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
SynonymsPP2A
MMRRC Submission 040920-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3933 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location52098681-52127778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52119262 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 232 (N232K)
Ref Sequence ENSEMBL: ENSMUSP00000020608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020608]
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: 9,354,856 F3350L probably damaging Het
Acp6 T C 3: 97,166,183 V146A probably benign Het
Ap3b2 C T 7: 81,473,850 probably benign Het
Arhgef33 A G 17: 80,373,320 I630V probably benign Het
Astn2 G A 4: 66,403,955 R136C unknown Het
Bcl2l14 A G 6: 134,423,808 D64G probably damaging Het
C1rl T A 6: 124,508,822 L384* probably null Het
Ccdc130 G A 8: 84,260,352 A172V probably benign Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,189,170 probably benign Het
Coch T C 12: 51,603,338 I370T probably damaging Het
Ercc5 T A 1: 44,167,856 M643K probably benign Het
Fut8 A C 12: 77,475,259 K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 Y88H probably damaging Het
Hspg2 T C 4: 137,515,568 V670A probably damaging Het
Itga8 A G 2: 12,189,519 I690T probably benign Het
Lepr T C 4: 101,765,301 probably benign Het
Matn2 T C 15: 34,345,420 probably null Het
Mei1 A G 15: 82,083,152 K310E possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Msl3 C T X: 168,671,817 A87T probably damaging Het
Ogdh T C 11: 6,342,601 V438A possibly damaging Het
Olfr1109 T A 2: 87,092,762 I212F probably benign Het
Olfr1293-ps T C 2: 111,527,955 Y232H probably damaging Het
Opa1 A T 16: 29,610,880 E401D probably damaging Het
Parp2 G A 14: 50,819,387 V323M probably benign Het
Pip5k1a A G 3: 95,072,003 S161P probably benign Het
Pold3 T C 7: 100,121,401 E8G probably damaging Het
Pomt1 G A 2: 32,245,619 V332I probably benign Het
Prune2 A T 19: 17,123,954 D2274V probably damaging Het
Pwwp2b G A 7: 139,256,034 V464I possibly damaging Het
Rgs7bp T C 13: 105,052,998 M98V probably benign Het
Rubcn A G 16: 32,829,259 probably null Het
Scai A T 2: 39,075,052 D593E probably benign Het
Slc24a2 T C 4: 87,176,185 T366A probably benign Het
Sp100 A G 1: 85,681,109 I320V probably benign Het
Syngr2 C A 11: 117,813,417 P206Q probably damaging Het
Tatdn3 A T 1: 191,046,324 probably null Het
Thsd7a C T 6: 12,555,226 G220S probably benign Het
Tmem28 G A X: 99,821,864 V266M possibly damaging Het
Vmn2r10 C A 5: 109,002,222 A319S possibly damaging Het
Vmn2r11 C T 5: 109,053,394 A415T probably damaging Het
Vmn2r88 A G 14: 51,413,978 M258V probably benign Het
Wiz G A 17: 32,357,898 R561C probably damaging Het
Zfp422 T C 6: 116,626,459 K193R probably benign Het
Other mutations in Ppp2ca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ppp2ca APN 11 52121949 missense probably benign 0.02
IGL01767:Ppp2ca APN 11 52118055 nonsense probably null
IGL01982:Ppp2ca APN 11 52099064 missense probably benign
IGL03260:Ppp2ca APN 11 52113148 missense probably damaging 0.96
R0539:Ppp2ca UTSW 11 52118162 critical splice donor site probably null
R0788:Ppp2ca UTSW 11 52113142 missense possibly damaging 0.92
R0855:Ppp2ca UTSW 11 52121925 missense probably benign 0.01
R1539:Ppp2ca UTSW 11 52120973 missense probably damaging 0.99
R1591:Ppp2ca UTSW 11 52099089 missense possibly damaging 0.93
R1766:Ppp2ca UTSW 11 52121946 missense probably benign
R2267:Ppp2ca UTSW 11 52118086 missense probably damaging 1.00
R2268:Ppp2ca UTSW 11 52118086 missense probably damaging 1.00
R4199:Ppp2ca UTSW 11 52099101 missense probably benign
R4992:Ppp2ca UTSW 11 52113206 missense possibly damaging 0.52
R5261:Ppp2ca UTSW 11 52099110 missense probably benign
R5684:Ppp2ca UTSW 11 52113327 missense probably damaging 1.00
R5729:Ppp2ca UTSW 11 52118029 missense probably damaging 1.00
R5766:Ppp2ca UTSW 11 52113187 missense probably damaging 1.00
R7186:Ppp2ca UTSW 11 52119253 missense possibly damaging 0.95
R8073:Ppp2ca UTSW 11 52119297 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TTACTGCAAAAGTTCAGCACAC -3'
(R):5'- CTGAAGAGGGTTTAGCTCCC -3'

Sequencing Primer
(F):5'- AGTTCAGCACACATACTAAGAATG -3'
(R):5'- TAGCTCCCATGGCAGACTCTAG -3'
Posted On2015-04-17