Incidental Mutation 'IGL02182:Ppp3cc'
ID 283275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp3cc
Ensembl Gene ENSMUSG00000022092
Gene Name protein phosphatase 3, catalytic subunit, gamma isoform
Synonyms Calnc, PP2BA gamma
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02182
Quality Score
Status
Chromosome 14
Chromosomal Location 70455314-70526920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 70462473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 388 (V388G)
Ref Sequence ENSEMBL: ENSMUSP00000077532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078434] [ENSMUST00000228911]
AlphaFold P48455
Predicted Effect probably benign
Transcript: ENSMUST00000078434
AA Change: V388G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: V388G

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: ENSMUST00000226259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228265
Predicted Effect probably benign
Transcript: ENSMUST00000228911
AA Change: V397G

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Ppp3cc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Ppp3cc APN 14 70,455,701 (GRCm39) missense probably damaging 0.99
IGL02272:Ppp3cc APN 14 70,473,938 (GRCm39) missense probably damaging 1.00
IGL03207:Ppp3cc APN 14 70,485,031 (GRCm39) missense probably damaging 1.00
IGL03394:Ppp3cc APN 14 70,462,477 (GRCm39) nonsense probably null
tomap UTSW 14 70,478,397 (GRCm39) missense probably damaging 1.00
R0111:Ppp3cc UTSW 14 70,493,808 (GRCm39) critical splice donor site probably null
R0625:Ppp3cc UTSW 14 70,462,476 (GRCm39) missense probably damaging 0.99
R1368:Ppp3cc UTSW 14 70,483,311 (GRCm39) missense probably damaging 1.00
R1484:Ppp3cc UTSW 14 70,478,397 (GRCm39) missense probably damaging 1.00
R4757:Ppp3cc UTSW 14 70,455,635 (GRCm39) missense possibly damaging 0.94
R6198:Ppp3cc UTSW 14 70,485,060 (GRCm39) missense probably benign 0.20
R7042:Ppp3cc UTSW 14 70,462,468 (GRCm39) missense probably benign 0.14
R7209:Ppp3cc UTSW 14 70,504,947 (GRCm39) missense probably benign 0.00
R7305:Ppp3cc UTSW 14 70,478,252 (GRCm39) missense probably benign
R7406:Ppp3cc UTSW 14 70,483,387 (GRCm39) missense possibly damaging 0.80
R7509:Ppp3cc UTSW 14 70,504,131 (GRCm39) missense probably damaging 1.00
R7623:Ppp3cc UTSW 14 70,478,394 (GRCm39) missense probably benign 0.37
R7814:Ppp3cc UTSW 14 70,462,464 (GRCm39) missense possibly damaging 0.68
R8700:Ppp3cc UTSW 14 70,474,001 (GRCm39) missense probably damaging 1.00
R9381:Ppp3cc UTSW 14 70,462,441 (GRCm39) missense probably benign 0.40
RF002:Ppp3cc UTSW 14 70,504,788 (GRCm39) missense possibly damaging 0.52
Posted On 2015-04-16