Incidental Mutation 'IGL01125:Ppp3cc'
ID52712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp3cc
Ensembl Gene ENSMUSG00000022092
Gene Nameprotein phosphatase 3, catalytic subunit, gamma isoform
SynonymsCalnc, PP2BA gamma
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01125
Quality Score
Status
Chromosome14
Chromosomal Location70217865-70289471 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 70218252 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 467 (H467Q)
Ref Sequence ENSEMBL: ENSMUSP00000153725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078434] [ENSMUST00000228911]
Predicted Effect probably benign
Transcript: ENSMUST00000078434
AA Change: H458Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: H458Q

DomainStartEndE-ValueType
PP2Ac 52 343 4e-151 SMART
low complexity region 413 433 N/A INTRINSIC
low complexity region 492 500 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228730
Predicted Effect probably damaging
Transcript: ENSMUST00000228911
AA Change: H467Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to reduced hyperactivated sperm motility and midpiece rigidity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 C T X: 160,492,708 T931I probably damaging Het
Atp5g3 A G 2: 73,910,949 probably benign Het
Btd T A 14: 31,667,776 F485I probably benign Het
Camk2d A G 3: 126,798,285 probably benign Het
Cd300lg A T 11: 102,054,221 probably benign Het
Col9a1 A G 1: 24,224,645 probably null Het
Cybb T A X: 9,446,744 N367I possibly damaging Het
Dcaf17 T C 2: 71,089,805 V479A probably benign Het
Dscaml1 G T 9: 45,749,632 probably null Het
Espl1 T C 15: 102,322,938 F51S probably damaging Het
Gm8979 A T 7: 106,082,814 N411K unknown Het
Gsdmc3 T A 15: 63,861,457 D258V probably benign Het
Ifngr1 C T 10: 19,597,413 probably benign Het
Kcnip1 A T 11: 33,633,202 D194E probably damaging Het
Lrrtm1 C T 6: 77,244,453 R298C probably damaging Het
Map3k4 G A 17: 12,271,962 S194L probably damaging Het
Mfsd7a A G 5: 108,444,592 probably benign Het
Mmp16 A G 4: 18,112,066 K481E possibly damaging Het
Myh1 A T 11: 67,220,660 M1642L probably benign Het
Nol9 G T 4: 152,046,609 C363F probably damaging Het
Nsd1 T C 13: 55,245,617 S344P probably damaging Het
Olfr678 A T 7: 105,069,601 I45F probably benign Het
Phf20 G A 2: 156,303,184 probably null Het
Rab28 A G 5: 41,635,894 M136T probably benign Het
Rag1 A G 2: 101,642,001 I932T probably damaging Het
Sez6 T C 11: 77,977,289 probably benign Het
Sorcs1 T C 19: 50,228,201 T647A probably damaging Het
Sspo T A 6: 48,492,888 C4507S probably damaging Het
Traf3ip3 T C 1: 193,184,464 probably null Het
Vmn2r121 T A X: 124,132,807 I218F probably damaging Het
Vmn2r61 A G 7: 42,260,126 Y25C probably damaging Het
Other mutations in Ppp3cc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02182:Ppp3cc APN 14 70225024 missense probably benign 0.21
IGL02272:Ppp3cc APN 14 70236489 missense probably damaging 1.00
IGL03207:Ppp3cc APN 14 70247582 missense probably damaging 1.00
IGL03394:Ppp3cc APN 14 70225028 nonsense probably null
tomap UTSW 14 70240948 missense probably damaging 1.00
R0111:Ppp3cc UTSW 14 70256359 critical splice donor site probably null
R0625:Ppp3cc UTSW 14 70225027 missense probably damaging 0.99
R1368:Ppp3cc UTSW 14 70245862 missense probably damaging 1.00
R1484:Ppp3cc UTSW 14 70240948 missense probably damaging 1.00
R4757:Ppp3cc UTSW 14 70218186 missense possibly damaging 0.94
R6198:Ppp3cc UTSW 14 70247611 missense probably benign 0.20
R7042:Ppp3cc UTSW 14 70225019 missense probably benign 0.14
R7209:Ppp3cc UTSW 14 70267498 missense probably benign 0.00
R7305:Ppp3cc UTSW 14 70240803 missense probably benign
R7406:Ppp3cc UTSW 14 70245938 missense possibly damaging 0.80
R7509:Ppp3cc UTSW 14 70266682 missense probably damaging 1.00
R7623:Ppp3cc UTSW 14 70240945 missense probably benign 0.37
R7814:Ppp3cc UTSW 14 70225015 missense possibly damaging 0.68
RF002:Ppp3cc UTSW 14 70267339 missense possibly damaging 0.52
Posted On2013-06-21