Incidental Mutation 'R8700:Ppp3cc'
ID 669020
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 068554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8700 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70455314-70526920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70474001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 332 (C332F)
Ref Sequence ENSEMBL: ENSMUSP00000077532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078434] [ENSMUST00000228911]
AlphaFold P48455
Predicted Effect probably damaging
Transcript: ENSMUST00000078434
AA Change: C332F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: C332F

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 probably damaging
Transcript: ENSMUST00000228911
AA Change: C332F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik T A 11: 50,833,344 (GRCm39) D86V unknown Het
Abtb2 C A 2: 103,397,289 (GRCm39) T73K probably damaging Het
Akr1c14 T C 13: 4,131,157 (GRCm39) probably benign Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ano7 T G 1: 93,316,329 (GRCm39) I204S probably damaging Het
Arhgef39 T A 4: 43,496,715 (GRCm39) Q333L probably benign Het
Art5 T C 7: 101,748,862 (GRCm39) probably benign Het
Asah1 T C 8: 41,813,312 (GRCm39) T34A probably benign Het
Atp9b T C 18: 80,796,361 (GRCm39) E894G Het
Atxn7l3 A T 11: 102,184,747 (GRCm39) M126K possibly damaging Het
Cacna2d4 A G 6: 119,258,654 (GRCm39) D580G probably damaging Het
Calcoco2 T A 11: 95,994,330 (GRCm39) K74N probably benign Het
Ccdc163 T C 4: 116,571,348 (GRCm39) probably null Het
Cep164 T C 9: 45,686,667 (GRCm39) probably null Het
Chd7 T A 4: 8,833,892 (GRCm39) N1215K probably damaging Het
Chsy3 T C 18: 59,309,487 (GRCm39) Y247H probably damaging Het
Clec16a A G 16: 10,506,422 (GRCm39) Y714C probably damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Daam2 T A 17: 49,803,180 (GRCm39) K77N probably damaging Het
Dhx35 T A 2: 158,682,552 (GRCm39) M495K possibly damaging Het
Disp2 T A 2: 118,620,340 (GRCm39) C357* probably null Het
Dnah6 T A 6: 73,052,873 (GRCm39) probably benign Het
Dnah7a T G 1: 53,535,088 (GRCm39) D2724A possibly damaging Het
Entpd5 A T 12: 84,443,508 (GRCm39) D53E probably damaging Het
Fto T A 8: 92,249,461 (GRCm39) I431N probably damaging Het
Gabrr2 T C 4: 33,095,488 (GRCm39) I459T probably damaging Het
Gm5565 T A 5: 146,097,236 (GRCm39) I29F probably damaging Het
Gm9195 C T 14: 72,720,171 (GRCm39) G87R probably damaging Het
Grin2a T C 16: 9,397,412 (GRCm39) S892G probably benign Het
Katnip A G 7: 125,429,042 (GRCm39) probably benign Het
Mki67 T C 7: 135,307,436 (GRCm39) N106S Het
Myo16 T C 8: 10,463,172 (GRCm39) S580P unknown Het
Neo1 A G 9: 58,825,913 (GRCm39) S672P probably benign Het
Nxph3 A T 11: 95,401,706 (GRCm39) V236E probably damaging Het
Or10j7 G T 1: 173,011,429 (GRCm39) P191T probably benign Het
Or7e171-ps1 A C 9: 19,852,996 (GRCm39) L247V unknown Het
Pcdhb14 T C 18: 37,582,652 (GRCm39) V586A probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pja2 C T 17: 64,599,949 (GRCm39) D512N probably damaging Het
Ppfibp2 A G 7: 107,345,602 (GRCm39) T875A possibly damaging Het
Pramel16 T A 4: 143,675,701 (GRCm39) H375L possibly damaging Het
Psg18 A T 7: 18,087,550 (GRCm39) V36D probably damaging Het
Ptprh A G 7: 4,567,190 (GRCm39) S561P probably damaging Het
Rhbdf2 G A 11: 116,498,230 (GRCm39) probably benign Het
Ripk2 T A 4: 16,158,422 (GRCm39) N61I possibly damaging Het
Setdb2 T C 14: 59,654,888 (GRCm39) Y318C probably damaging Het
Shc1 A G 3: 89,334,740 (GRCm39) D533G possibly damaging Het
Sirpb1a T C 3: 15,476,419 (GRCm39) E193G probably damaging Het
Slc41a2 T C 10: 83,152,097 (GRCm39) E126G probably damaging Het
Spata31h1 A T 10: 82,127,859 (GRCm39) I1717N possibly damaging Het
Srms C A 2: 180,848,521 (GRCm39) A413S probably damaging Het
Tob2 G T 15: 81,735,802 (GRCm39) R56S probably damaging Het
Unc119 T C 11: 78,238,137 (GRCm39) I105T probably benign Het
Unc13c T C 9: 73,479,679 (GRCm39) I1742V probably benign Het
Vmn1r46 C T 6: 89,953,325 (GRCm39) T58I probably benign Het
Vmn2r81 G T 10: 79,129,517 (GRCm39) V803F probably damaging Het
Zfp365 T C 10: 67,745,535 (GRCm39) K81R possibly damaging Het
Zfp974 G T 7: 27,609,472 (GRCm39) T751K possibly damaging Het
Zfpl1 T C 19: 6,132,464 (GRCm39) N149S 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
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
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'- ACATCCTGCACCCAGTACTG -3'
(R):5'- AGGCTGTCCTGAATTTACAAATGG -3'

Sequencing Primer
(F):5'- GTACTGCACACATACACATCCTG -3'
(R):5'- GCACACATGTCTTGTGTG -3'
Posted On 2021-04-30