Incidental Mutation 'R9343:Prkcg'
ID 715977
Institutional Source Beutler Lab
Gene Symbol Prkcg
Ensembl Gene ENSMUSG00000078816
Gene Name protein kinase C, gamma
Synonyms PKCgamma, Prkcc, Pkcc
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9343 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 3352038-3379615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3359124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 110 (S110R)
Ref Sequence ENSEMBL: ENSMUSP00000097874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100301] [ENSMUST00000172109]
AlphaFold P63318
Predicted Effect possibly damaging
Transcript: ENSMUST00000100301
AA Change: S110R

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: S110R

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 possibly damaging
Transcript: ENSMUST00000172109
AA Change: S110R

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: S110R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,547,505 (GRCm39) I960V probably benign Het
Alpk3 A G 7: 80,742,079 (GRCm39) D632G probably benign Het
Aplp2 A T 9: 31,122,935 (GRCm39) L30Q unknown Het
Axl A T 7: 25,473,544 (GRCm39) Y361N probably damaging Het
Brinp2 A T 1: 158,077,090 (GRCm39) probably benign Het
Bsn T C 9: 107,992,701 (GRCm39) D1017G probably damaging Het
Cc2d2a A T 5: 43,875,999 (GRCm39) D1046V probably damaging Het
Cdc42bpg G A 19: 6,364,553 (GRCm39) G594S probably damaging Het
Clcn6 A G 4: 148,098,458 (GRCm39) S519P probably benign Het
Cnot2 T G 10: 116,346,326 (GRCm39) H92P Het
Col2a1 T C 15: 97,877,775 (GRCm39) D1049G probably damaging Het
Creld1 C T 6: 113,466,728 (GRCm39) A237V probably benign Het
Csf2rb2 A T 15: 78,171,287 (GRCm39) probably benign Het
Csmd3 G A 15: 48,015,001 (GRCm39) T643I probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fcmr A T 1: 130,802,072 (GRCm39) T109S Het
Grap C A 11: 61,562,551 (GRCm39) P174Q possibly damaging Het
Itgb5 T A 16: 33,730,826 (GRCm39) probably benign Het
Kidins220 A G 12: 25,058,078 (GRCm39) N561S probably damaging Het
Mri1 A T 8: 84,983,796 (GRCm39) S32T probably benign Het
Mrtfb T C 16: 13,218,791 (GRCm39) V479A probably benign Het
Muc4 A T 16: 32,569,971 (GRCm39) T344S possibly damaging Het
Npc1 A G 18: 12,334,769 (GRCm39) I661T possibly damaging Het
Npy1r A G 8: 67,156,751 (GRCm39) N57S probably damaging Het
Pds5b A G 5: 150,704,186 (GRCm39) D863G probably damaging Het
Phf14 T A 6: 11,961,563 (GRCm39) V400D probably damaging Het
Polr2l A G 7: 141,053,246 (GRCm39) I56T probably benign Het
Ppat A G 5: 77,063,884 (GRCm39) I422T probably benign Het
Rab7b A T 1: 131,639,540 (GRCm39) probably benign Het
Rnf152 A T 1: 105,212,251 (GRCm39) L102Q Het
Samd12 A G 15: 53,583,088 (GRCm39) V82A probably damaging Het
Serpina1e T A 12: 103,917,299 (GRCm39) R123S probably benign Het
Slit1 T A 19: 41,615,737 (GRCm39) N794I probably damaging Het
Surf6 T C 2: 26,783,006 (GRCm39) K154R probably damaging Het
Tln2 C T 9: 67,230,353 (GRCm39) A71T probably benign Het
Trim3 A G 7: 105,260,673 (GRCm39) Y649H probably benign Het
Ttll7 T A 3: 146,667,497 (GRCm39) W808R probably damaging Het
Tvp23a T C 16: 10,245,287 (GRCm39) D104G probably damaging Het
Upp2 A G 2: 58,645,339 (GRCm39) probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r119 A G 7: 20,746,358 (GRCm39) V8A probably benign Het
Vmn1r209 T A 13: 22,990,546 (GRCm39) H48L probably damaging Het
Wdr11 T C 7: 129,232,523 (GRCm39) probably null Het
Zcchc17 T C 4: 130,210,546 (GRCm39) D207G probably damaging Het
Zfp78 T C 7: 6,381,942 (GRCm39) S331P probably 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
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
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
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'- AGCTAAAAGGCTTCTCTCTAGCTAG -3'
(R):5'- ATAGCATTTCAGGCCCAGGC -3'

Sequencing Primer
(F):5'- CATGCCTACAATCTCAGTTGGAGG -3'
(R):5'- TTCACCAACCCCACCTTAGATCTC -3'
Posted On 2022-06-15