Incidental Mutation 'IGL03260:Ppp2ca'
ID 414785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2ca
Ensembl Gene ENSMUSG00000020349
Gene Name protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
Synonyms PP2A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03260
Quality Score
Status
Chromosome 11
Chromosomal Location 51989651-52013576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52003975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 44 (N44S)
Ref Sequence ENSEMBL: ENSMUSP00000020608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020608]
AlphaFold P63330
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: 20,187,071 (GRCm39) probably benign Het
Abca12 A G 1: 71,323,258 (GRCm39) L1608P probably damaging Het
Akr1b8 G T 6: 34,340,394 (GRCm39) probably benign Het
Appbp2 A G 11: 85,107,283 (GRCm39) V69A probably benign Het
Ces1e T C 8: 93,950,545 (GRCm39) N79D probably benign Het
Cldn34b3 A G X: 75,310,479 (GRCm39) T16A probably damaging Het
Frmd4b A T 6: 97,373,185 (GRCm39) F103Y probably damaging Het
Ifi47 T C 11: 48,986,932 (GRCm39) F233S probably damaging Het
Igkv8-30 A T 6: 70,094,339 (GRCm39) M24K probably damaging Het
Krt72 C T 15: 101,686,708 (GRCm39) A413T probably damaging Het
Lingo4 A G 3: 94,309,250 (GRCm39) T63A probably benign Het
Naa35 T G 13: 59,775,699 (GRCm39) S125A probably benign Het
Or6c76 T C 10: 129,612,521 (GRCm39) V261A probably damaging Het
Or6z7 A T 7: 6,483,658 (GRCm39) C166S probably damaging Het
Padi1 T C 4: 140,555,505 (GRCm39) H240R probably benign Het
Ppp1r12a A G 10: 108,097,106 (GRCm39) T240A probably benign Het
Prg4 T A 1: 150,331,378 (GRCm39) probably benign Het
Rab33a A G X: 47,608,545 (GRCm39) E23G probably benign Het
Scarb2 G T 5: 92,594,296 (GRCm39) A422E probably damaging Het
Scn4b A T 9: 45,058,987 (GRCm39) N86I probably damaging Het
Serpina1d G A 12: 103,730,108 (GRCm39) T358I probably damaging Het
Slc12a3 T A 8: 95,059,870 (GRCm39) I172N probably damaging Het
Slc18a1 T C 8: 69,527,766 (GRCm39) E15G probably benign Het
Snx7 A G 3: 117,575,942 (GRCm39) probably benign Het
Srpx T A X: 9,921,987 (GRCm39) K216* probably null Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Unc13c A G 9: 73,838,626 (GRCm39) S742P probably benign Het
Vmn2r104 C T 17: 20,263,083 (GRCm39) C126Y probably benign Het
Vmn2r63 A T 7: 42,578,616 (GRCm39) N92K probably damaging 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
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
R3933:Ppp2ca UTSW 11 52,010,089 (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
Posted On 2016-08-02