Incidental Mutation 'R1368:Ppp3cc'
ID 155900
Institutional Source Beutler Lab
Gene Symbol Ppp3cc
Ensembl Gene ENSMUSG00000022092
Gene Name protein phosphatase 3, catalytic subunit, gamma isoform
Synonyms Calnc, PP2BA gamma
MMRRC Submission 039433-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1368 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70455314-70526920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70483311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 254 (Y254C)
Ref Sequence ENSEMBL: ENSMUSP00000153725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078434] [ENSMUST00000228911]
AlphaFold P48455
Predicted Effect probably damaging
Transcript: ENSMUST00000078434
AA Change: Y254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: Y254C

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 damaging
Transcript: ENSMUST00000228911
AA Change: Y254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8969 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,836 (GRCm39) D1233G probably benign Het
Abcc8 G A 7: 45,772,284 (GRCm39) R832W probably damaging Het
Atp10b A G 11: 43,092,981 (GRCm39) T439A probably damaging Het
Brd10 C A 19: 29,693,796 (GRCm39) S1966I probably damaging Het
C130073F10Rik T A 4: 101,747,953 (GRCm39) N74Y possibly damaging Het
Cct8 G A 16: 87,288,200 (GRCm39) S124L probably damaging Het
Cdh9 T A 15: 16,848,568 (GRCm39) probably benign Het
Cep290 C T 10: 100,330,828 (GRCm39) probably benign Het
Chrng T A 1: 87,133,575 (GRCm39) L10H probably damaging Het
Cnn3 T C 3: 121,250,786 (GRCm39) L189S probably benign Het
Cog4 A G 8: 111,585,157 (GRCm39) probably benign Het
Cxcl12 A G 6: 117,153,111 (GRCm39) probably benign Het
Eif2b2 G A 12: 85,270,230 (GRCm39) A257T probably damaging Het
Entrep2 A T 7: 64,469,625 (GRCm39) V41E probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,858,903 (GRCm39) Q2341R possibly damaging Het
Fktn G A 4: 53,734,880 (GRCm39) G173R probably damaging Het
Gabbr2 T C 4: 46,674,464 (GRCm39) N841S probably benign Het
Gm5622 T A 14: 51,899,647 (GRCm39) V167E possibly damaging Het
Gnaq T C 19: 16,355,651 (GRCm39) V289A probably benign Het
Gpatch2l T G 12: 86,307,439 (GRCm39) D272E possibly damaging Het
Gzmg G A 14: 56,395,263 (GRCm39) T74I probably benign Het
Ikzf2 G A 1: 69,578,474 (GRCm39) A271V possibly damaging Het
Lig4 T C 8: 10,021,176 (GRCm39) D868G possibly damaging Het
Mfsd6 T C 1: 52,747,764 (GRCm39) E367G possibly damaging Het
Mpz T C 1: 170,987,533 (GRCm39) L223P probably damaging Het
Muc17 T C 5: 137,175,674 (GRCm39) probably benign Het
Or2f1b C A 6: 42,739,613 (GRCm39) T209K possibly damaging Het
Pdcd2 G T 17: 15,746,846 (GRCm39) N104K probably damaging Het
Pigg G T 5: 108,465,154 (GRCm39) G129V probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Psg23 A G 7: 18,348,645 (GRCm39) V54A probably benign Het
Psmd3 A G 11: 98,573,746 (GRCm39) D64G probably damaging Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptgdr T A 14: 45,090,799 (GRCm39) I320F probably damaging Het
Rad50 T A 11: 53,574,072 (GRCm39) K722* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rgs9 G A 11: 109,138,977 (GRCm39) S255L probably benign Het
Ror1 C T 4: 100,298,334 (GRCm39) P569L possibly damaging Het
Rsad2 T C 12: 26,497,147 (GRCm39) probably null Het
Scn8a A G 15: 100,933,422 (GRCm39) D1501G probably damaging Het
Sema3c A G 5: 17,883,330 (GRCm39) T313A possibly damaging Het
Serpinc1 T A 1: 160,821,094 (GRCm39) F59L probably damaging Het
Sike1 A G 3: 102,903,500 (GRCm39) D63G possibly damaging Het
Slc25a11 T A 11: 70,536,352 (GRCm39) probably null Het
Slc32a1 A G 2: 158,453,240 (GRCm39) M27V probably benign Het
Smc5 A G 19: 23,187,807 (GRCm39) V1003A probably damaging Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Topaz1 A G 9: 122,577,315 (GRCm39) E75G possibly damaging Het
Tspan3 A T 9: 56,054,783 (GRCm39) V48E probably benign Het
Ugt1a6b T C 1: 88,035,358 (GRCm39) I232T probably benign Het
Unc79 A G 12: 103,122,772 (GRCm39) K2290E probably damaging Het
Vmn1r19 T C 6: 57,381,656 (GRCm39) F70L probably benign Het
Other mutations in Ppp3cc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Ppp3cc APN 14 70,455,701 (GRCm39) missense probably damaging 0.99
IGL02182:Ppp3cc APN 14 70,462,473 (GRCm39) missense probably benign 0.21
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
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
Predicted Primers PCR Primer
(F):5'- TTCATAATACCAGGTGTGGTGGCAAG -3'
(R):5'- AATCTGCTGCTTCCAAAAGCCTTTTAC -3'

Sequencing Primer
(F):5'- gacctaagttcccagcacc -3'
(R):5'- TCCAAAAGCCTTTTACTTTCCTG -3'
Posted On 2014-02-11