Incidental Mutation 'R0164:Prkcg'
ID 24335
Institutional Source Beutler Lab
Gene Symbol Prkcg
Ensembl Gene ENSMUSG00000078816
Gene Name protein kinase C, gamma
Synonyms PKCgamma, Prkcc, Pkcc
MMRRC Submission 038440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0164 (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 3377635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 581 (E581K)
Ref Sequence ENSEMBL: ENSMUSP00000097874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092891] [ENSMUST00000100301] [ENSMUST00000172109]
AlphaFold P63318
Predicted Effect probably benign
Transcript: ENSMUST00000092891
SMART Domains Protein: ENSMUSP00000090567
Gene: ENSMUSG00000069806

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 4.4e-22 PFAM
Pfam:Claudin_2 18 197 2.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100301
AA Change: E581K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: E581K

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: E530K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: E530K

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
Meta Mutation Damage Score 0.4292 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 69% (18/26)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4930522L14Rik T C 5: 109,884,713 (GRCm39) K382E probably damaging Het
Adck1 A G 12: 88,422,280 (GRCm39) E297G probably damaging Het
Aldh3a2 C T 11: 61,139,714 (GRCm39) V473I probably benign Het
Arfgef3 A T 10: 18,523,663 (GRCm39) I369K possibly damaging Het
Atp1b3 T C 9: 96,220,762 (GRCm39) I178V possibly damaging Het
Axdnd1 T C 1: 156,205,956 (GRCm39) E520G possibly damaging Het
BB019430 A T 10: 58,540,093 (GRCm39) noncoding transcript Het
Btbd1 T A 7: 81,450,751 (GRCm39) Q343L probably benign Het
Catsper1 A G 19: 5,389,503 (GRCm39) T473A possibly damaging Het
Ccn4 T C 15: 66,791,059 (GRCm39) L287P probably damaging Het
Chmp6 G A 11: 119,806,349 (GRCm39) probably null Het
Cstdc7 T A 18: 42,306,608 (GRCm39) D58E probably damaging Het
D130040H23Rik T C 8: 69,755,195 (GRCm39) V200A possibly damaging Het
D830013O20Rik C T 12: 73,411,105 (GRCm39) noncoding transcript Het
Dcaf1 T A 9: 106,721,344 (GRCm39) S379T possibly damaging Het
Dhx58 T C 11: 100,586,150 (GRCm39) I624V probably benign Het
Disp3 T C 4: 148,338,708 (GRCm39) E821G probably damaging Het
Dlc1 T A 8: 37,066,594 (GRCm39) E464V probably damaging Het
Dnah10 G A 5: 124,860,898 (GRCm39) V2151I probably damaging Het
Dnah8 G A 17: 30,967,639 (GRCm39) G2617D probably benign Het
Dnah9 C A 11: 65,809,630 (GRCm39) E872* probably null Het
Dock9 T C 14: 121,835,077 (GRCm39) Y99C probably damaging Het
Dpy19l3 T A 7: 35,416,071 (GRCm39) I310F probably damaging Het
Fggy A T 4: 95,725,891 (GRCm39) I137F probably damaging Het
Gm14012 C T 2: 128,079,936 (GRCm39) noncoding transcript Het
Gm14421 A T 2: 176,748,515 (GRCm39) noncoding transcript Het
Grin2a A G 16: 9,812,685 (GRCm39) probably null Het
Incenp A G 19: 9,872,243 (GRCm39) S72P probably benign Het
Klc3 T A 7: 19,128,851 (GRCm39) N469Y possibly damaging Het
Lrrc42 A G 4: 107,104,702 (GRCm39) S88P probably benign Het
Lrrc49 G A 9: 60,587,883 (GRCm39) T93I probably benign Het
Mlycd A T 8: 120,134,380 (GRCm39) Q294L probably damaging Het
Mrpl22 T A 11: 58,062,647 (GRCm39) I19N probably benign Het
Msh3 T A 13: 92,485,717 (GRCm39) K202N probably damaging Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Ncam1 C T 9: 49,479,709 (GRCm39) D90N probably damaging Het
Nckap5 A T 1: 125,952,144 (GRCm39) D1405E possibly damaging Het
Ncoa2 A G 1: 13,256,955 (GRCm39) probably null Het
Nlrp1b A T 11: 71,054,925 (GRCm39) W844R probably damaging Het
Nmnat1 G T 4: 149,553,607 (GRCm39) N168K possibly damaging Het
Or5b96 A G 19: 12,867,809 (GRCm39) L44P probably damaging Het
Ost4 T C 5: 31,064,803 (GRCm39) H26R probably damaging Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Otogl A T 10: 107,710,391 (GRCm39) I566N probably damaging Het
Pcyt1a T C 16: 32,289,004 (GRCm39) S282P probably damaging Het
Ralgps2 A G 1: 156,714,659 (GRCm39) probably null Het
Scmh1 T C 4: 120,387,062 (GRCm39) probably benign Het
Sgo2b T C 8: 64,391,417 (GRCm39) H150R possibly damaging Het
Sh2b3 T G 5: 121,967,100 (GRCm39) T5P probably damaging Het
Tdp2 A G 13: 25,022,222 (GRCm39) M214V probably damaging Het
Tmem204 A G 17: 25,277,324 (GRCm39) I187T probably damaging Het
Tmem208 T G 8: 106,061,326 (GRCm39) D117E probably benign Het
Tnks1bp1 C T 2: 84,889,565 (GRCm39) P631S possibly damaging Het
Tomm70a T C 16: 56,968,184 (GRCm39) V517A probably damaging Het
Ttc7 T C 17: 87,687,323 (GRCm39) V801A probably damaging Het
Txndc5 A T 13: 38,691,929 (GRCm39) C146S probably damaging Het
Ube4b G T 4: 149,444,781 (GRCm39) T493K probably damaging Het
Ufl1 A T 4: 25,256,008 (GRCm39) Y504N probably benign Het
Ulk3 T A 9: 57,497,969 (GRCm39) I90N probably damaging Het
Unc13c T C 9: 73,602,174 (GRCm39) I1357M probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r91 A C 17: 18,326,399 (GRCm39) N228T probably benign Het
Zbtb6 G T 2: 37,319,600 (GRCm39) Y109* probably null Het
Zfp640 G T 13: 66,819,062 (GRCm39) noncoding transcript Het
Zfp640 C A 13: 66,819,038 (GRCm39) noncoding transcript Het
Zfp980 A G 4: 145,428,567 (GRCm39) D432G 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
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
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
Posted On 2013-04-16