Incidental Mutation 'R1484:Ppp3cc'
ID 163346
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 039537-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1484 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70455314-70526920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70478397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 268 (N268K)
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: N268K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: N268K

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: ENSMUST00000227159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228265
Predicted Effect probably damaging
Transcript: ENSMUST00000228911
AA Change: N268K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (85/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A T 5: 26,684,776 (GRCm39) noncoding transcript Het
Acvr1 A T 2: 58,369,901 (GRCm39) V36E probably damaging Het
Aldh4a1 A G 4: 139,370,758 (GRCm39) I414V probably benign Het
Alox5 C T 6: 116,431,128 (GRCm39) C100Y probably damaging Het
Ano5 T A 7: 51,216,068 (GRCm39) D348E probably damaging Het
Arhgap30 G A 1: 171,230,839 (GRCm39) V199M probably damaging Het
Arl13b T A 16: 62,626,999 (GRCm39) Q234L probably benign Het
Atxn1 C A 13: 45,711,052 (GRCm39) E627* probably null Het
Bend3 T C 10: 43,386,197 (GRCm39) F197L probably benign Het
Brca1 A T 11: 101,420,638 (GRCm39) V190E possibly damaging Het
Brpf1 T C 6: 113,292,096 (GRCm39) W381R probably damaging Het
Brwd1 A C 16: 95,829,491 (GRCm39) probably null Het
C1s2 T C 6: 124,602,604 (GRCm39) I530V possibly damaging Het
C2cd3 C T 7: 100,089,397 (GRCm39) R1638W probably damaging Het
Capns1 T A 7: 29,893,511 (GRCm39) probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep126 G A 9: 8,100,554 (GRCm39) T660I possibly damaging Het
Cep295 A C 9: 15,246,080 (GRCm39) I744R probably damaging Het
Chd3 T C 11: 69,250,725 (GRCm39) E668G probably benign Het
Chek2 A G 5: 110,996,553 (GRCm39) T172A probably damaging Het
Col6a4 A G 9: 105,890,501 (GRCm39) probably null Het
Coq3 G A 4: 21,900,291 (GRCm39) V173I probably benign Het
Cyp4x1 A T 4: 114,970,098 (GRCm39) I343N probably damaging Het
Dnah7b T A 1: 46,176,703 (GRCm39) D774E probably benign Het
Dnai3 T C 3: 145,802,996 (GRCm39) D65G probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Esrra T C 19: 6,890,197 (GRCm39) Y209C probably damaging Het
Gpr149 A T 3: 62,502,592 (GRCm39) D421E probably benign Het
Gpr15 T C 16: 58,538,937 (GRCm39) N51D probably damaging Het
Gpr156 T C 16: 37,812,558 (GRCm39) V298A probably damaging Het
Hmcn2 G A 2: 31,236,507 (GRCm39) G350D probably damaging Het
Ifih1 A T 2: 62,440,902 (GRCm39) N421K probably benign Het
Ilvbl C A 10: 78,412,564 (GRCm39) T95K probably damaging Het
Itgb4 T A 11: 115,890,625 (GRCm39) D1104E probably benign Het
Katnip C A 7: 125,415,743 (GRCm39) probably benign Het
Lipf A T 19: 33,942,180 (GRCm39) M37L probably benign Het
Lyst T A 13: 13,852,775 (GRCm39) N2258K probably benign Het
Moxd1 A G 10: 24,099,758 (GRCm39) Y86C probably damaging Het
Muc5ac T C 7: 141,367,629 (GRCm39) probably null Het
Myo16 G A 8: 10,610,145 (GRCm39) R1162H probably damaging Het
Myo5c A T 9: 75,208,092 (GRCm39) N1609Y probably damaging Het
Nbeal1 T C 1: 60,240,098 (GRCm39) F155L probably damaging Het
Nek4 A T 14: 30,704,290 (GRCm39) M602L possibly damaging Het
Nek9 A G 12: 85,348,622 (GRCm39) S971P probably damaging Het
Nfya A T 17: 48,700,570 (GRCm39) probably benign Het
Nrxn3 A T 12: 89,221,547 (GRCm39) N442I probably damaging Het
Nup42 A C 5: 24,383,075 (GRCm39) K200N probably benign Het
Or1e26 T A 11: 73,480,187 (GRCm39) I126L possibly damaging Het
Or4c111 G A 2: 88,843,713 (GRCm39) R232* probably null Het
Or7g32 G A 9: 19,389,423 (GRCm39) T38I probably damaging Het
Pcdh15 T A 10: 74,126,833 (GRCm39) I304N probably damaging Het
Pigo G C 4: 43,024,779 (GRCm39) P107A probably damaging Het
Plce1 C T 19: 38,693,783 (GRCm39) Q769* probably null Het
Plin2 C T 4: 86,575,481 (GRCm39) R356H probably benign Het
Ppp1r9a G T 6: 5,113,712 (GRCm39) E739* probably null Het
Prkag3 T A 1: 74,779,919 (GRCm39) D472V probably damaging Het
Ptch2 A T 4: 116,968,046 (GRCm39) D846V probably damaging Het
Rhob A T 12: 8,549,388 (GRCm39) M82K probably damaging Het
Rps6kc1 T A 1: 190,531,672 (GRCm39) R777W possibly damaging Het
Sap130 T A 18: 31,844,380 (GRCm39) V850E probably damaging Het
Sema3a T G 5: 13,523,407 (GRCm39) N125K probably damaging Het
Sema5a A G 15: 32,460,431 (GRCm39) D64G probably damaging Het
Sgo2b T A 8: 64,384,507 (GRCm39) D163V possibly damaging Het
Slc15a1 A T 14: 121,728,651 (GRCm39) Y31* probably null Het
Smchd1 A T 17: 71,685,252 (GRCm39) M1392K probably benign Het
Sobp T A 10: 43,036,827 (GRCm39) N37I probably damaging Het
Spock3 G T 8: 63,673,739 (GRCm39) C142F probably damaging Het
Stx6 A C 1: 155,053,650 (GRCm39) S86R probably benign Het
Sult2a4 C A 7: 13,643,726 (GRCm39) M280I probably benign Het
Synm A T 7: 67,386,080 (GRCm39) D527E probably damaging Het
Tax1bp1 C T 6: 52,710,305 (GRCm39) R195W probably damaging Het
Themis2 A T 4: 132,519,796 (GRCm39) N76K possibly damaging Het
Tmem8b A G 4: 43,690,234 (GRCm39) T890A probably benign Het
Traf7 T A 17: 24,730,785 (GRCm39) H366L possibly damaging Het
Trim30c A T 7: 104,032,459 (GRCm39) V289D probably benign Het
Tsr1 T A 11: 74,792,914 (GRCm39) D407E probably damaging Het
Ubap2 G T 4: 41,235,593 (GRCm39) A33E probably damaging Het
Unc13d C A 11: 115,964,701 (GRCm39) R255L possibly damaging Het
Ush2a G T 1: 188,542,534 (GRCm39) G3367* probably null Het
Vmn1r229 T C 17: 21,034,791 (GRCm39) L12P probably damaging Het
Vmn2r27 C A 6: 124,177,474 (GRCm39) G510V probably damaging Het
Vps4b T C 1: 106,707,712 (GRCm39) E257G probably damaging Het
Vps72 T C 3: 95,026,462 (GRCm39) S136P probably damaging Het
Wdr36 T C 18: 32,976,938 (GRCm39) I181T possibly damaging Het
Wfikkn1 C T 17: 26,096,765 (GRCm39) A520T 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
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'- GGGCAGAGAAAATCGTAATAAGTGACGGAAA -3'
(R):5'- CTGAGGAGGGAGGTTGTGAGGGAGG -3'

Sequencing Primer
(F):5'- CGGAAAGCCAGTTGCTTG -3'
(R):5'- tcactctgatggctctaacac -3'
Posted On 2014-03-28