Incidental Mutation 'R0625:Ppp3cc'
ID 57440
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 038814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0625 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70455314-70526920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70462476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 396 (E396G)
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: E387G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: E387G

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: E396G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,319,365 (GRCm39) S2P probably benign Het
Abca16 A C 7: 120,035,116 (GRCm39) T301P probably damaging Het
Acer2 A G 4: 86,805,399 (GRCm39) D121G possibly damaging Het
Adgrd1 T C 5: 129,248,995 (GRCm39) probably null Het
Arhgap11a T C 2: 113,672,056 (GRCm39) I249V probably benign Het
Arhgap22 A G 14: 33,088,671 (GRCm39) E219G probably benign Het
C2cd4b T A 9: 67,667,033 (GRCm39) S10T probably benign Het
Cnot6 A T 11: 49,573,998 (GRCm39) I224N probably damaging Het
Ctrc T C 4: 141,568,829 (GRCm39) T125A probably damaging Het
Cxxc5 T G 18: 35,991,642 (GRCm39) S14R unknown Het
Cyp4f37 T G 17: 32,853,652 (GRCm39) F445L probably damaging Het
Dcbld1 T G 10: 52,188,946 (GRCm39) I186S probably benign Het
Dmxl2 T C 9: 54,289,986 (GRCm39) T2510A probably benign Het
Dnah3 A G 7: 119,671,110 (GRCm39) I591T possibly damaging Het
Dock5 A T 14: 68,078,612 (GRCm39) I204N probably benign Het
Dysf G A 6: 84,088,969 (GRCm39) probably null Het
Erich5 A G 15: 34,471,515 (GRCm39) E248G probably damaging Het
Fhip1a A G 3: 85,637,807 (GRCm39) V164A possibly damaging Het
Foxm1 A G 6: 128,350,834 (GRCm39) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm39) T959A probably benign Het
Gfra4 C T 2: 130,882,176 (GRCm39) V277I probably null Het
Hacd4 T C 4: 88,353,247 (GRCm39) I82V probably benign Het
Itih2 C T 2: 10,128,225 (GRCm39) V159I possibly damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Marchf11 A G 15: 26,311,129 (GRCm39) I202V probably damaging Het
Marchf3 A G 18: 56,944,902 (GRCm39) probably null Het
Med12l G A 3: 59,154,858 (GRCm39) E1135K probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlx T C 11: 100,978,608 (GRCm39) L78P possibly damaging Het
Muc5b T C 7: 141,400,164 (GRCm39) C473R unknown Het
N4bp2l1 T A 5: 150,500,210 (GRCm39) R66* probably null Het
Nes A G 3: 87,884,479 (GRCm39) T913A possibly damaging Het
Oas1a T C 5: 121,037,322 (GRCm39) E235G probably damaging Het
Or5p56 T C 7: 107,590,396 (GRCm39) S275P probably damaging Het
Or8b1c T C 9: 38,384,504 (GRCm39) S154P possibly damaging Het
Or8i2 T A 2: 86,851,964 (GRCm39) H308L probably benign Het
Parn C T 16: 13,458,158 (GRCm39) V286I probably benign Het
Paxip1 G A 5: 27,970,940 (GRCm39) Q470* probably null Het
Phc2 C G 4: 128,617,503 (GRCm39) H510D possibly damaging Het
Pla2g4f T A 2: 120,135,522 (GRCm39) D384V probably damaging Het
Plpbp A T 8: 27,535,159 (GRCm39) N68I probably damaging Het
Podxl2 G A 6: 88,826,937 (GRCm39) A123V possibly damaging Het
Pole A T 5: 110,473,416 (GRCm39) T1737S possibly damaging Het
Pramel7 T A 2: 87,321,352 (GRCm39) I228F probably benign Het
Prl7d1 A T 13: 27,894,123 (GRCm39) C149S probably benign Het
Qtrt1 G T 9: 21,329,584 (GRCm39) M217I probably benign Het
Sec24a T A 11: 51,620,281 (GRCm39) D456V probably damaging Het
Shox2 T G 3: 66,888,877 (GRCm39) probably null Het
Skint2 T A 4: 112,481,283 (GRCm39) S49T probably damaging Het
Smarca5 A G 8: 81,447,315 (GRCm39) probably null Het
Sorcs2 T A 5: 36,181,916 (GRCm39) D1068V possibly damaging Het
Tmem114 T C 16: 8,229,966 (GRCm39) probably null Het
Ttc7b T A 12: 100,321,305 (GRCm39) M24L probably benign Het
Ttll3 A G 6: 113,385,864 (GRCm39) probably null Het
Usp7 C T 16: 8,522,846 (GRCm39) D102N 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
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
Predicted Primers PCR Primer
(F):5'- ACTCAACCAGAAGACTTGCAGTTCC -3'
(R):5'- TGAAACCTCCTGCTCCCCATAGATG -3'

Sequencing Primer
(F):5'- GACTTGCAGTTCCAGCATCAG -3'
(R):5'- TCCCCATAGATGACTCGGAG -3'
Posted On 2013-07-11