Incidental Mutation 'IGL03260:Ppp2ca'
ID414785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2ca
Ensembl Gene ENSMUSG00000020349
Gene Nameprotein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
SynonymsPP2A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03260
Quality Score
Status
Chromosome11
Chromosomal Location52098681-52127778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52113148 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 44 (N44S)
Ref Sequence ENSEMBL: ENSMUSP00000020608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020608]
Predicted Effect probably damaging
Transcript: ENSMUST00000020608
AA Change: N44S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: N44S

DomainStartEndE-ValueType
PP2Ac 23 293 3.46e-155 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik A G 10: 20,311,325 probably benign Het
Abca12 A G 1: 71,284,099 L1608P probably damaging Het
Akr1b8 G T 6: 34,363,459 probably benign Het
Appbp2 A G 11: 85,216,457 V69A probably benign Het
Ces1e T C 8: 93,223,917 N79D probably benign Het
Cldn34b3 A G X: 76,266,873 T16A probably damaging Het
Frmd4b A T 6: 97,396,224 F103Y probably damaging Het
Ifi47 T C 11: 49,096,105 F233S probably damaging Het
Igkv8-30 A T 6: 70,117,355 M24K probably damaging Het
Krt72 C T 15: 101,778,273 A413T probably damaging Het
Lingo4 A G 3: 94,401,943 T63A probably benign Het
Naa35 T G 13: 59,627,885 S125A probably benign Het
Olfr5 A T 7: 6,480,659 C166S probably damaging Het
Olfr809 T C 10: 129,776,652 V261A probably damaging Het
Padi1 T C 4: 140,828,194 H240R probably benign Het
Ppp1r12a A G 10: 108,261,245 T240A probably benign Het
Prg4 T A 1: 150,455,627 probably benign Het
Rab33a A G X: 48,519,668 E23G probably benign Het
Scarb2 G T 5: 92,446,437 A422E probably damaging Het
Scn4b A T 9: 45,147,689 N86I probably damaging Het
Serpina1d G A 12: 103,763,849 T358I probably damaging Het
Slc12a3 T A 8: 94,333,242 I172N probably damaging Het
Slc18a1 T C 8: 69,075,114 E15G probably benign Het
Snx7 A G 3: 117,782,293 probably benign Het
Srpx T A X: 10,055,748 K216* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Unc13c A G 9: 73,931,344 S742P probably benign Het
Vmn2r104 C T 17: 20,042,821 C126Y probably benign Het
Vmn2r63 A T 7: 42,929,192 N92K 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
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
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
Posted On2016-08-02