Incidental Mutation 'R4199:Ppp2ca'
Institutional Source Beutler Lab
Gene Symbol Ppp2ca
Ensembl Gene ENSMUSG00000020349
Gene Nameprotein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
MMRRC Submission 041029-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4199 (G1)
Quality Score225
Status Not validated
Chromosomal Location52098681-52127778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52099101 bp
Amino Acid Change Asparagine to Serine at position 18 (N18S)
Ref Sequence ENSEMBL: ENSMUSP00000020608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020608]
Predicted Effect probably benign
Transcript: ENSMUST00000020608
AA Change: N18S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: N18S

PP2Ac 23 293 3.46e-155 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 C G 18: 36,661,048 probably benign Het
Cbarp G T 10: 80,135,492 H173Q probably damaging Het
Ccna1 G A 3: 55,047,315 A177V possibly damaging Het
Ces1f A G 8: 93,256,889 F497L probably benign Het
Cic TCCCCC TCCCCCCC 7: 25,291,670 probably null Het
Disc1 C T 8: 125,148,459 T556I probably damaging Het
Dnah3 C T 7: 119,922,838 G4033D probably damaging Het
Dnmt1 A G 9: 20,938,118 S63P probably benign Het
Eml2 G A 7: 19,179,439 A121T probably benign Het
Eps8 T C 6: 137,514,327 N351S probably damaging Het
Fam122c G A X: 53,293,499 R94H possibly damaging Het
Fbxo34 T A 14: 47,530,997 W605R probably damaging Het
Foxg1 T A 12: 49,385,299 S272T possibly damaging Het
Gal3st3 T A 19: 5,307,780 Y394* probably null Het
Gga1 A G 15: 78,889,075 E301G probably damaging Het
Ifitm5 T A 7: 140,949,236 *153Y probably null Het
Ighg2b G T 12: 113,307,287 P110Q probably damaging Het
Il17rb C T 14: 29,996,644 D494N probably benign Het
Irf2bp2 C A 8: 126,591,574 A418S probably damaging Het
Lcn9 A G 2: 25,824,761 T171A probably benign Het
Lcorl T C 5: 45,733,788 K408E possibly damaging Het
Myh14 T A 7: 44,615,503 R1653* probably null Het
Naa16 A T 14: 79,355,871 H420Q probably damaging Het
Nol8 T A 13: 49,661,748 V426E possibly damaging Het
Olfr1357 A T 10: 78,612,067 D191E possibly damaging Het
Orc4 G A 2: 48,937,489 P31S probably benign Het
Papln C T 12: 83,783,392 T1012I probably null Het
Pkd1 A G 17: 24,570,030 T921A probably benign Het
Pknox1 C A 17: 31,602,816 Q294K probably damaging Het
Serpinb9d A G 13: 33,202,674 probably null Het
Sfxn5 T A 6: 85,215,742 E319V probably benign Het
Slc1a1 A G 19: 28,901,452 K197R probably benign Het
Spef2 A G 15: 9,667,280 F774S probably damaging Het
Syp A G X: 7,639,927 probably null Het
Zfp276 A G 8: 123,267,825 T544A probably damaging 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
R3933:Ppp2ca UTSW 11 52119262 missense probably damaging 1.00
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

Sequencing Primer
Posted On2015-06-10