Incidental Mutation 'R2220:Ppp3ca'
ID 241409
Institutional Source Beutler Lab
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
MMRRC Submission 040222-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2220 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 136375885-136643488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 136503685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 86 (T86K)
Ref Sequence ENSEMBL: ENSMUSP00000071040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056758] [ENSMUST00000070198]
AlphaFold P63328
Predicted Effect probably damaging
Transcript: ENSMUST00000056758
AA Change: T86K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: T86K

DomainStartEndE-ValueType
PP2Ac 56 347 2.91e-162 SMART
low complexity region 507 519 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070198
AA Change: T86K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: T86K

DomainStartEndE-ValueType
PP2Ac 56 347 2.91e-162 SMART
low complexity region 497 509 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200068
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,344,572 (GRCm39) I116T probably damaging Het
Aatk G T 11: 119,903,003 (GRCm39) F407L probably damaging Het
Abca8a A T 11: 109,917,681 (GRCm39) L1586Q probably damaging Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,552 (GRCm39) D420G probably damaging Het
Bcl6 A T 16: 23,791,382 (GRCm39) L324* probably null Het
Bicc1 A G 10: 70,785,955 (GRCm39) S396P probably damaging Het
Bltp1 T C 3: 36,929,679 (GRCm39) probably null Het
Ccdc83 G A 7: 89,908,722 (GRCm39) S4L probably damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cep85 T C 4: 133,881,178 (GRCm39) H363R probably damaging Het
Cfap61 G A 2: 145,878,736 (GRCm39) probably null Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Cluh T A 11: 74,557,947 (GRCm39) F1062I probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Csmd1 T C 8: 16,042,641 (GRCm39) D2364G possibly damaging Het
Cyb5d1 T C 11: 69,285,871 (GRCm39) D55G probably benign Het
Cyp2c29 A T 19: 39,275,676 (GRCm39) I39F probably benign Het
Cyp2j8 T C 4: 96,332,862 (GRCm39) S495G probably benign Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dnah7a C T 1: 53,560,333 (GRCm39) V2113I probably benign Het
Dusp3 T C 11: 101,865,631 (GRCm39) N95D probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Flg2 T G 3: 93,109,492 (GRCm39) S507A unknown Het
Gdf6 A G 4: 9,844,770 (GRCm39) H98R probably damaging Het
Ggnbp2 T C 11: 84,727,439 (GRCm39) N63S possibly damaging Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gtf2h5 G A 17: 6,134,853 (GRCm39) E48K probably benign Het
Hivep3 T G 4: 119,591,235 (GRCm39) V81G possibly damaging Het
Igsf21 A G 4: 139,755,425 (GRCm39) M410T probably damaging Het
Insrr T C 3: 87,716,725 (GRCm39) L651P probably damaging Het
Iqcb1 A T 16: 36,663,824 (GRCm39) probably null Het
Klhdc7a G A 4: 139,692,764 (GRCm39) R728C probably benign Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mertk T A 2: 128,643,392 (GRCm39) N930K probably benign Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Nedd4 T A 9: 72,643,989 (GRCm39) C614S probably damaging Het
Or13a19 T C 7: 139,903,484 (GRCm39) S291P probably benign Het
Or2l13b A T 16: 19,348,895 (GRCm39) Y258* probably null Het
Or5k1 G T 16: 58,617,987 (GRCm39) A74D possibly damaging Het
Pard3b C T 1: 62,518,842 (GRCm39) R976* probably null Het
Pcdhb16 A G 18: 37,612,020 (GRCm39) T327A probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppp1r37 C A 7: 19,266,371 (GRCm39) R465L probably null Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Rnf213 T C 11: 119,327,254 (GRCm39) L1747P possibly damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc25a18 G A 6: 120,770,518 (GRCm39) probably null Het
Stt3a A G 9: 36,660,847 (GRCm39) probably null Het
Supt16 G A 14: 52,409,601 (GRCm39) R770* probably null Het
Syde2 A G 3: 145,707,713 (GRCm39) I551V probably benign Het
Tasor2 A T 13: 3,631,872 (GRCm39) N876K probably benign Het
Tecta T C 9: 42,303,326 (GRCm39) D102G probably damaging Het
Tmc7 A T 7: 118,152,039 (GRCm39) I294N possibly damaging Het
Tmem174 T C 13: 98,773,767 (GRCm39) Y21C probably damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Trim30c A G 7: 104,032,474 (GRCm39) V284A probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Vps13d C T 4: 144,904,890 (GRCm39) V79M probably damaging Het
Wfdc18 C T 11: 83,600,739 (GRCm39) R45* probably null 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
IGL02472:Ppp3ca APN 3 136,627,623 (GRCm39) missense possibly damaging 0.57
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
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
Predicted Primers PCR Primer
(F):5'- CATTTCCACCAAGTCACCGG -3'
(R):5'- TCTGTACCAACACTGTTACACATC -3'

Sequencing Primer
(F):5'- GCTGACAGCAAAGGAAGTGTTTG -3'
(R):5'- CACAGCAATTCAATTGTGTAGGC -3'
Posted On 2014-10-15