Incidental Mutation 'R4997:Prkcg'
ID 385340
Institutional Source Beutler Lab
Gene Symbol Prkcg
Ensembl Gene ENSMUSG00000078816
Gene Name protein kinase C, gamma
Synonyms PKCgamma, Prkcc, Pkcc
MMRRC Submission 042591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4997 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 3352038-3379615 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 3371097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100301] [ENSMUST00000172109]
AlphaFold P63318
Predicted Effect probably null
Transcript: ENSMUST00000100301
SMART Domains Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
C1 36 85 2.89e-16 SMART
C1 101 150 2.27e-14 SMART
C2 172 275 1.35e-26 SMART
low complexity region 319 331 N/A INTRINSIC
S_TKc 351 614 1.37e-94 SMART
S_TK_X 615 677 1.77e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172109
SMART Domains Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
C1 36 85 2.89e-16 SMART
C1 101 150 2.27e-14 SMART
C2 172 275 1.35e-26 SMART
S_TKc 309 563 2.73e-80 SMART
S_TK_X 564 626 1.77e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203081
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Depending upon genetic background, homozygous null mice show mild deficits in spatial learning and contextual conditioning. Genotype-dependent reductions in sensitivity to the effects of ethanol on righting reflex and hypothermia, in neuropathic pain after injury, and in anxiety are also evident. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik A T 14: 33,775,623 (GRCm39) M1L probably benign Het
Abca7 C A 10: 79,843,154 (GRCm39) Q1210K possibly damaging Het
Abcc4 C T 14: 118,753,915 (GRCm39) W1024* probably null Het
Accs A T 2: 93,672,228 (GRCm39) Y213* probably null Het
Adam6a G T 12: 113,508,991 (GRCm39) G455C probably damaging Het
Adcy1 A C 11: 7,111,298 (GRCm39) Y863S probably benign Het
Adgrg1 A G 8: 95,736,148 (GRCm39) D434G probably damaging Het
Afap1l1 C T 18: 61,884,879 (GRCm39) R202Q probably benign Het
Aldh3a1 T C 11: 61,103,137 (GRCm39) V27A probably benign Het
Antxr2 A G 5: 98,125,553 (GRCm39) F235L probably benign Het
Arhgap23 T A 11: 97,342,846 (GRCm39) V376E probably damaging Het
Brca1 A C 11: 101,415,159 (GRCm39) S992A probably damaging Het
Brcc3dc A G 10: 108,535,649 (GRCm39) I102T probably benign Het
Calcrl A T 2: 84,181,592 (GRCm39) C185* probably null Het
Cep152 T C 2: 125,428,271 (GRCm39) T787A probably benign Het
Coch T A 12: 51,649,964 (GRCm39) probably null Het
Col5a1 T A 2: 27,922,794 (GRCm39) Y287* probably null Het
Dis3l A G 9: 64,219,224 (GRCm39) S569P possibly damaging Het
Dnai1 A G 4: 41,597,919 (GRCm39) I74V possibly damaging Het
Dpy19l4 A G 4: 11,287,493 (GRCm39) V394A probably benign Het
Egfem1 A G 3: 29,207,739 (GRCm39) H122R probably benign Het
Endou A G 15: 97,617,458 (GRCm39) L164P probably damaging Het
Epgn A G 5: 91,180,098 (GRCm39) E80G possibly damaging Het
Fcgbpl1 T G 7: 27,843,349 (GRCm39) S746A possibly damaging Het
Fitm1 T C 14: 55,814,364 (GRCm39) S287P probably benign Het
Foxm1 A G 6: 128,342,731 (GRCm39) N22D probably benign Het
Gsdmc A T 15: 63,648,629 (GRCm39) M426K probably damaging Het
Hmcn2 T A 2: 31,291,720 (GRCm39) V2418D probably damaging Het
Hs3st2 T A 7: 121,099,679 (GRCm39) L175Q possibly damaging Het
Il1r2 T C 1: 40,160,206 (GRCm39) probably null Het
Il27ra A T 8: 84,766,156 (GRCm39) Y209* probably null Het
Inpp5a A T 7: 138,980,654 (GRCm39) S31C probably benign Het
Invs A G 4: 48,396,332 (GRCm39) D335G probably damaging Het
Isg15 C T 4: 156,284,154 (GRCm39) E125K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama4 C A 10: 38,968,262 (GRCm39) T1468K probably damaging Het
Lce1a2 A G 3: 92,576,395 (GRCm39) S56P unknown Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lmf1 G A 17: 25,807,650 (GRCm39) W164* probably null Het
Mad2l1bp G T 17: 46,463,804 (GRCm39) C73* probably null Het
Mpzl1 A C 1: 165,429,350 (GRCm39) V230G probably damaging Het
Myo3b A G 2: 70,088,427 (GRCm39) T869A possibly damaging Het
Ncor2 T C 5: 125,111,074 (GRCm39) H1316R probably damaging Het
Nlrp1b T A 11: 71,109,160 (GRCm39) I114F probably damaging Het
Nsun7 A G 5: 66,453,182 (GRCm39) I632M probably benign Het
Nubp1 T C 16: 10,239,185 (GRCm39) I234T probably benign Het
Olfml1 A G 7: 107,170,413 (GRCm39) D100G probably damaging Het
Or1e1b-ps1 T A 11: 73,845,612 (GRCm39) L32Q probably damaging Het
Or5p73 C A 7: 108,064,701 (GRCm39) Q57K probably benign Het
Or7g23 A T 9: 19,086,627 (GRCm39) L115Q probably damaging Het
Osmr G T 15: 6,845,120 (GRCm39) P882Q probably benign Het
Peg10 TCAGGATCC TCAGGATCCCCAGCAGGATCC 6: 4,756,457 (GRCm39) probably benign Het
Per2 T A 1: 91,378,505 (GRCm39) T15S probably benign Het
Piezo2 A G 18: 63,216,184 (GRCm39) Y1184H probably damaging Het
Pik3c2b C T 1: 133,032,819 (GRCm39) A1560V probably damaging Het
Pik3cd A C 4: 149,743,441 (GRCm39) L256R probably damaging Het
Ppl C A 16: 4,907,235 (GRCm39) R1020L probably damaging Het
Ppp1r10 A G 17: 36,234,976 (GRCm39) N60S probably damaging Het
Prkci T C 3: 31,085,375 (GRCm39) probably null Het
Prrc2b A G 2: 32,112,323 (GRCm39) Y1929C probably damaging Het
Prss12 T C 3: 123,240,857 (GRCm39) V17A probably benign Het
Qtrt1 A G 9: 21,328,654 (GRCm39) N206S probably benign Het
Rad54l2 A C 9: 106,600,108 (GRCm39) S50A possibly damaging Het
Rhov C T 2: 119,100,949 (GRCm39) R96H probably damaging Het
Rph3a A T 5: 121,101,906 (GRCm39) V110E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,610,192 (GRCm39) N646K probably benign Het
Scn8a A G 15: 100,854,935 (GRCm39) T141A probably damaging Het
Serping1 T C 2: 84,600,629 (GRCm39) R238G possibly damaging Het
Shank3 T A 15: 89,433,901 (GRCm39) W1474R probably damaging Het
Slc16a12 T A 19: 34,652,358 (GRCm39) M263L probably benign Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Spata31 G A 13: 65,067,537 (GRCm39) M66I probably benign Het
Spem2 T C 11: 69,708,558 (GRCm39) I136V probably benign Het
Supt5 T C 7: 28,015,462 (GRCm39) H925R probably benign Het
Syk A T 13: 52,766,484 (GRCm39) K190* probably null Het
Thsd1 T A 8: 22,733,340 (GRCm39) V129D probably damaging Het
Tiprl A G 1: 165,047,759 (GRCm39) V174A possibly damaging Het
Tmed4 T A 11: 6,224,500 (GRCm39) probably null Het
Tnfrsf19 T C 14: 61,208,658 (GRCm39) T288A probably benign Het
Tnfrsf25 T C 4: 152,202,153 (GRCm39) probably null Het
Tpd52 A G 3: 9,000,056 (GRCm39) L121S probably damaging Het
Trim30a T A 7: 104,060,827 (GRCm39) K316N probably benign Het
Ttc3 T G 16: 94,253,841 (GRCm39) D1221E probably damaging Het
Ttn C T 2: 76,714,403 (GRCm39) probably benign Het
Ttn T C 2: 76,776,615 (GRCm39) I1514V probably benign Het
Ulk2 T C 11: 61,689,982 (GRCm39) T671A probably benign Het
Wasf1 C T 10: 40,810,600 (GRCm39) P281S probably damaging Het
Wnt10b C A 15: 98,672,084 (GRCm39) R211L probably damaging Het
Xpnpep3 T A 15: 81,332,577 (GRCm39) C371* probably null Het
Zfp41 C T 15: 75,490,617 (GRCm39) probably benign Het
Zfp553 T A 7: 126,834,683 (GRCm39) N79K probably benign Het
Zmynd8 G T 2: 165,634,736 (GRCm39) D1096E probably benign Het
Other mutations in Prkcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Prkcg APN 7 3,368,135 (GRCm39) missense probably benign 0.27
IGL01551:Prkcg APN 7 3,352,342 (GRCm39) unclassified probably benign
IGL02167:Prkcg APN 7 3,371,097 (GRCm39) critical splice donor site probably null
IGL02434:Prkcg APN 7 3,367,406 (GRCm39) missense probably benign
R0044:Prkcg UTSW 7 3,363,517 (GRCm39) intron probably benign
R0164:Prkcg UTSW 7 3,377,635 (GRCm39) missense probably damaging 1.00
R0164:Prkcg UTSW 7 3,377,635 (GRCm39) missense probably damaging 1.00
R0413:Prkcg UTSW 7 3,368,095 (GRCm39) missense probably benign 0.00
R0417:Prkcg UTSW 7 3,352,820 (GRCm39) critical splice acceptor site probably null
R1113:Prkcg UTSW 7 3,377,622 (GRCm39) missense probably damaging 1.00
R1170:Prkcg UTSW 7 3,368,177 (GRCm39) missense probably damaging 0.97
R1308:Prkcg UTSW 7 3,377,622 (GRCm39) missense probably damaging 1.00
R1634:Prkcg UTSW 7 3,371,986 (GRCm39) missense probably damaging 1.00
R1978:Prkcg UTSW 7 3,353,862 (GRCm39) missense probably damaging 1.00
R2016:Prkcg UTSW 7 3,372,066 (GRCm39) missense probably damaging 0.98
R2209:Prkcg UTSW 7 3,352,097 (GRCm39) unclassified probably benign
R3788:Prkcg UTSW 7 3,362,263 (GRCm39) missense probably damaging 0.99
R4006:Prkcg UTSW 7 3,375,983 (GRCm39) missense probably damaging 0.96
R4853:Prkcg UTSW 7 3,367,469 (GRCm39) missense probably damaging 0.99
R4915:Prkcg UTSW 7 3,378,781 (GRCm39) nonsense probably null
R4916:Prkcg UTSW 7 3,378,781 (GRCm39) nonsense probably null
R5446:Prkcg UTSW 7 3,378,780 (GRCm39) missense probably benign 0.00
R5646:Prkcg UTSW 7 3,377,597 (GRCm39) missense probably damaging 0.97
R5677:Prkcg UTSW 7 3,371,974 (GRCm39) missense probably damaging 1.00
R6913:Prkcg UTSW 7 3,362,335 (GRCm39) missense probably benign 0.02
R7355:Prkcg UTSW 7 3,372,025 (GRCm39) missense possibly damaging 0.94
R7371:Prkcg UTSW 7 3,368,069 (GRCm39) missense probably benign 0.27
R7544:Prkcg UTSW 7 3,359,081 (GRCm39) missense probably benign 0.00
R7649:Prkcg UTSW 7 3,378,480 (GRCm39) missense probably benign 0.09
R7742:Prkcg UTSW 7 3,378,459 (GRCm39) missense possibly damaging 0.84
R8009:Prkcg UTSW 7 3,362,708 (GRCm39) missense probably benign
R8074:Prkcg UTSW 7 3,372,037 (GRCm39) missense probably damaging 1.00
R8296:Prkcg UTSW 7 3,377,580 (GRCm39) missense probably benign 0.37
R8344:Prkcg UTSW 7 3,378,686 (GRCm39) missense probably damaging 1.00
R8887:Prkcg UTSW 7 3,370,857 (GRCm39) missense possibly damaging 0.94
R9343:Prkcg UTSW 7 3,359,124 (GRCm39) missense possibly damaging 0.55
R9426:Prkcg UTSW 7 3,375,975 (GRCm39) missense probably damaging 1.00
R9530:Prkcg UTSW 7 3,375,965 (GRCm39) missense possibly damaging 0.89
R9605:Prkcg UTSW 7 3,359,360 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGTTTAAGGAGCCTCATGCA -3'
(R):5'- GTGAATTAATCTATTGTTCTCTGCTCT -3'

Sequencing Primer
(F):5'- TCATGCAGCGTAAGTCTCAG -3'
(R):5'- TAGGTCATCTTCAAGGGCAGCATC -3'
Posted On 2016-05-10