Incidental Mutation 'IGL02472:Ppp3ca'
ID 294755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp3ca
Ensembl Gene ENSMUSG00000028161
Gene Name protein phosphatase 3, catalytic subunit, alpha isoform
Synonyms Caln, CN, PP2BA alpha, PP2B alpha 1, CnA, Calna, 2900074D19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 3
Chromosomal Location 136375885-136643488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136627623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 396 (I396V)
Ref Sequence ENSEMBL: ENSMUSP00000071040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056758] [ENSMUST00000070198]
AlphaFold P63328
Predicted Effect possibly damaging
Transcript: ENSMUST00000056758
AA Change: I396V

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: I396V

DomainStartEndE-ValueType
PP2Ac 56 347 2.91e-162 SMART
low complexity region 507 519 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000070198
AA Change: I396V

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: I396V

DomainStartEndE-ValueType
PP2Ac 56 347 2.91e-162 SMART
low complexity region 497 509 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130768
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Ppp3ca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Ppp3ca APN 3 136,640,942 (GRCm39) missense probably benign 0.01
IGL01405:Ppp3ca APN 3 136,574,482 (GRCm39) missense probably benign 0.33
IGL02061:Ppp3ca APN 3 136,503,624 (GRCm39) missense probably benign
IGL02285:Ppp3ca APN 3 136,634,387 (GRCm39) splice site probably benign
IGL02706:Ppp3ca APN 3 136,611,079 (GRCm39) missense possibly damaging 0.84
IGL02894:Ppp3ca APN 3 136,503,573 (GRCm39) missense probably damaging 1.00
R0325:Ppp3ca UTSW 3 136,640,900 (GRCm39) missense probably benign 0.15
R1072:Ppp3ca UTSW 3 136,640,888 (GRCm39) missense probably benign
R1427:Ppp3ca UTSW 3 136,627,675 (GRCm39) missense probably damaging 1.00
R1524:Ppp3ca UTSW 3 136,503,579 (GRCm39) missense probably benign
R1568:Ppp3ca UTSW 3 136,634,305 (GRCm39) missense probably benign 0.00
R1754:Ppp3ca UTSW 3 136,587,209 (GRCm39) missense probably benign 0.20
R1800:Ppp3ca UTSW 3 136,640,792 (GRCm39) missense probably damaging 0.98
R1844:Ppp3ca UTSW 3 136,627,672 (GRCm39) missense probably benign 0.08
R1878:Ppp3ca UTSW 3 136,503,639 (GRCm39) missense probably benign 0.03
R2155:Ppp3ca UTSW 3 136,596,211 (GRCm39) missense possibly damaging 0.95
R2160:Ppp3ca UTSW 3 136,583,391 (GRCm39) missense probably damaging 1.00
R2220:Ppp3ca UTSW 3 136,503,685 (GRCm39) missense probably damaging 1.00
R2331:Ppp3ca UTSW 3 136,503,580 (GRCm39) missense probably benign
R3052:Ppp3ca UTSW 3 136,503,605 (GRCm39) missense probably benign 0.00
R3500:Ppp3ca UTSW 3 136,587,273 (GRCm39) missense probably benign 0.00
R4764:Ppp3ca UTSW 3 136,596,250 (GRCm39) missense probably damaging 0.99
R4974:Ppp3ca UTSW 3 136,640,810 (GRCm39) missense possibly damaging 0.60
R5952:Ppp3ca UTSW 3 136,634,332 (GRCm39) missense probably benign 0.08
R6051:Ppp3ca UTSW 3 136,581,883 (GRCm39) missense probably damaging 1.00
R6395:Ppp3ca UTSW 3 136,583,531 (GRCm39) missense possibly damaging 0.47
R6975:Ppp3ca UTSW 3 136,611,062 (GRCm39) missense probably damaging 1.00
R7121:Ppp3ca UTSW 3 136,574,387 (GRCm39) missense probably damaging 1.00
R7720:Ppp3ca UTSW 3 136,596,250 (GRCm39) missense probably damaging 1.00
R7773:Ppp3ca UTSW 3 136,596,222 (GRCm39) missense probably benign
R7828:Ppp3ca UTSW 3 136,503,535 (GRCm39) missense probably damaging 1.00
R7830:Ppp3ca UTSW 3 136,574,481 (GRCm39) missense probably damaging 1.00
R8108:Ppp3ca UTSW 3 136,637,986 (GRCm39) splice site probably null
R8126:Ppp3ca UTSW 3 136,608,952 (GRCm39) missense probably damaging 0.99
R8285:Ppp3ca UTSW 3 136,587,205 (GRCm39) missense probably damaging 1.00
R8516:Ppp3ca UTSW 3 136,583,529 (GRCm39) missense probably damaging 1.00
R8537:Ppp3ca UTSW 3 136,503,619 (GRCm39) missense possibly damaging 0.89
R9662:Ppp3ca UTSW 3 136,583,501 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16