Incidental Mutation 'R4006:Prkcg'
ID 311470
Institutional Source Beutler Lab
Gene Symbol Prkcg
Ensembl Gene ENSMUSG00000078816
Gene Name protein kinase C, gamma
Synonyms PKCgamma, Prkcc, Pkcc
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 3352038-3379615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3375983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 492 (V492I)
Ref Sequence ENSEMBL: ENSMUSP00000131351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100301] [ENSMUST00000172109]
AlphaFold P63318
Predicted Effect possibly damaging
Transcript: ENSMUST00000100301
AA Change: V543I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: V543I

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 damaging
Transcript: ENSMUST00000172109
AA Change: V492I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: V492I

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 noncoding transcript
Transcript: ENSMUST00000203454
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging 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
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
R4997:Prkcg UTSW 7 3,371,097 (GRCm39) critical splice donor site 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'- GGAACCCTGCAATCTCAGAG -3'
(R):5'- CCTTTGAGAGCCTTTGAGGG -3'

Sequencing Primer
(F):5'- GAGAGCAAACATCTGTATTCCTAGC -3'
(R):5'- CTGGAGAACCTGTTGACTGAC -3'
Posted On 2015-04-29