Incidental Mutation 'R3052:Ppp3ca'
ID 264983
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 040561-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3052 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 136375885-136643488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 136503605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 59 (S59R)
Ref Sequence ENSEMBL: ENSMUSP00000071040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056758] [ENSMUST00000070198]
AlphaFold P63328
Predicted Effect probably benign
Transcript: ENSMUST00000056758
AA Change: S59R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: S59R

DomainStartEndE-ValueType
PP2Ac 56 347 2.91e-162 SMART
low complexity region 507 519 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070198
AA Change: S59R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: S59R

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
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Adcy5 T C 16: 35,124,086 (GRCm39) L1255P probably damaging Het
Ampd2 C T 3: 107,993,803 (GRCm39) probably benign Het
Asb18 T A 1: 89,920,707 (GRCm39) H149L probably damaging Het
Atp8b1 T C 18: 64,686,179 (GRCm39) E668G probably benign Het
Axdnd1 T C 1: 156,169,440 (GRCm39) T809A probably damaging Het
B430306N03Rik T C 17: 48,623,938 (GRCm39) S80P probably damaging Het
Banp G A 8: 122,732,426 (GRCm39) probably null Het
Capn2 G A 1: 182,315,337 (GRCm39) T306M probably benign Het
Ccpg1 A T 9: 72,913,150 (GRCm39) S229C probably damaging Het
Cep250 G T 2: 155,832,968 (GRCm39) S1630I probably damaging Het
Ces1g C A 8: 94,061,676 (GRCm39) V77L possibly damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col6a3 T A 1: 90,729,852 (GRCm39) H1211L possibly damaging Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Gm10384 A G 15: 36,871,996 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,672,299 (GRCm39) probably benign Het
Ift88 C T 14: 57,668,025 (GRCm39) P9S probably damaging Het
Mfsd2a A G 4: 122,845,635 (GRCm39) L172P probably damaging Het
Nav3 T A 10: 109,739,613 (GRCm39) I119F probably damaging Het
Nbeal2 T C 9: 110,462,153 (GRCm39) E1428G possibly damaging Het
Or12e7 C A 2: 87,288,247 (GRCm39) T246K probably damaging Het
Phf13 T C 4: 152,076,820 (GRCm39) D124G possibly damaging Het
Rsu1 A G 2: 13,174,946 (GRCm39) probably benign Het
Rttn T C 18: 89,033,370 (GRCm39) probably benign Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Sc5d G T 9: 42,166,866 (GRCm39) N224K probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Tbc1d21 T A 9: 58,270,352 (GRCm39) D141V probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Ugt3a1 G T 15: 9,365,374 (GRCm39) W329L probably damaging Het
Unk T C 11: 115,940,949 (GRCm39) Y237H probably benign Het
Vcam1 A C 3: 115,918,079 (GRCm39) probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zc3h12c A T 9: 52,055,356 (GRCm39) L132Q possibly 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
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
R2220:Ppp3ca UTSW 3 136,503,685 (GRCm39) missense probably damaging 1.00
R2331:Ppp3ca UTSW 3 136,503,580 (GRCm39) missense probably benign
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'- ACAGCGTTATCTGGTTAGTGACAG -3'
(R):5'- TTCAATGGTAAAAGCAGATGGTGTG -3'

Sequencing Primer
(F):5'- TCAGCGGTCATTGGCCTG -3'
(R):5'- TAAAAGCAGATGGTGTGTAAGTTGTC -3'
Posted On 2015-02-05