Incidental Mutation 'IGL01308:Prkce'
ID 73522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkce
Ensembl Gene ENSMUSG00000045038
Gene Name protein kinase C, epsilon
Synonyms PKCepsilon, PCK epsilon, Pkce, PKC[e], 5830406C15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01308
Quality Score
Status
Chromosome 17
Chromosomal Location 86475213-86965347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86932890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 623 (D623E)
Ref Sequence ENSEMBL: ENSMUSP00000094874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097274] [ENSMUST00000097275]
AlphaFold P16054
Predicted Effect probably damaging
Transcript: ENSMUST00000097274
AA Change: D623E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: D623E

DomainStartEndE-ValueType
C2 7 114 5.78e-12 SMART
C1 170 220 4.48e-13 SMART
C1 243 292 8.29e-17 SMART
S_TKc 408 668 1.3e-104 SMART
S_TK_X 669 732 2.56e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097275
AA Change: D623E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: D623E

DomainStartEndE-ValueType
C2 7 114 5.78e-12 SMART
C1 170 220 4.48e-13 SMART
C1 243 292 8.29e-17 SMART
S_TKc 408 668 1.3e-104 SMART
S_TK_X 669 732 2.56e-25 SMART
Coding Region Coverage
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 the 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 family members 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 a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced ethanol self-administration and are more sensitive to the acute behavioral effects of ethanol and other drugs that activate GABA(A) receptors. Mutants show reduced anxiety and stress hormones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,748,997 (GRCm39) D1256G probably damaging Het
Acot7 A T 4: 152,345,353 (GRCm39) M308L probably benign Het
Adarb2 A G 13: 8,253,329 (GRCm39) R25G possibly damaging Het
Ano1 C A 7: 144,149,235 (GRCm39) Q875H probably damaging Het
Ano6 G A 15: 95,811,542 (GRCm39) probably null Het
Defa40 C T 8: 21,740,434 (GRCm39) T80I probably damaging Het
Efcab3 A T 11: 104,611,523 (GRCm39) D455V probably benign Het
Ehbp1 G A 11: 22,088,022 (GRCm39) P354L probably damaging Het
Eml5 T C 12: 98,768,572 (GRCm39) H1454R probably damaging Het
Esyt1 T A 10: 128,355,660 (GRCm39) N421Y possibly damaging Het
Gen1 T C 12: 11,306,871 (GRCm39) T100A probably damaging Het
Jak3 A T 8: 72,137,810 (GRCm39) D780V probably damaging Het
Klrb1a A G 6: 128,595,008 (GRCm39) probably benign Het
Lrp8 A G 4: 107,721,273 (GRCm39) I826M probably benign Het
Mcmbp G A 7: 128,316,209 (GRCm39) Q214* probably null Het
Mtmr7 A T 8: 41,050,388 (GRCm39) Y136N probably damaging Het
Ndor1 A G 2: 25,140,151 (GRCm39) Y88H probably benign Het
Nkx2-4 A G 2: 146,926,260 (GRCm39) Y201H possibly damaging Het
Or3a1d A G 11: 74,237,486 (GRCm39) L308P probably damaging Het
Or52n4b T A 7: 108,143,933 (GRCm39) L65* probably null Het
Or6c5 A T 10: 129,074,476 (GRCm39) T153S probably benign Het
Pigg T C 5: 108,484,343 (GRCm39) L663P probably damaging Het
Pik3cd A G 4: 149,741,917 (GRCm39) V343A probably damaging Het
Plekha4 A G 7: 45,187,659 (GRCm39) S244G probably damaging Het
Rasgrf2 A G 13: 92,159,425 (GRCm39) probably benign Het
Rexo5 T C 7: 119,433,499 (GRCm39) W419R probably damaging Het
Rnaseh2b A G 14: 62,602,706 (GRCm39) probably null Het
Rras A G 7: 44,670,709 (GRCm39) Y193C possibly damaging Het
Sall4 T C 2: 168,592,164 (GRCm39) I997V probably damaging Het
Sec31b A G 19: 44,512,122 (GRCm39) F591L probably benign Het
Skic2 A G 17: 35,059,610 (GRCm39) L232P probably benign Het
Slc13a3 A T 2: 165,248,700 (GRCm39) I526N probably damaging Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Snrnp25 A G 11: 32,158,745 (GRCm39) probably benign Het
Tex264 T C 9: 106,539,607 (GRCm39) K201E possibly damaging Het
Tgfb1 G T 7: 25,387,442 (GRCm39) R50L probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Tmed1 A T 9: 21,421,338 (GRCm39) C45* probably null Het
Tmem260 A G 14: 48,749,415 (GRCm39) N638S probably damaging Het
Traf3ip3 T C 1: 192,867,199 (GRCm39) E274G probably damaging Het
Trak1 T C 9: 121,272,802 (GRCm39) probably null Het
Trim3 A T 7: 105,266,676 (GRCm39) V502E probably damaging Het
Trmo C T 4: 46,377,053 (GRCm39) probably benign Het
Xab2 C T 8: 3,666,332 (GRCm39) R192Q probably benign Het
Other mutations in Prkce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Prkce APN 17 86,476,268 (GRCm39) missense probably damaging 1.00
IGL01508:Prkce APN 17 86,937,513 (GRCm39) missense probably damaging 1.00
IGL02500:Prkce APN 17 86,476,342 (GRCm39) missense probably benign 0.16
IGL02957:Prkce APN 17 86,803,454 (GRCm39) missense possibly damaging 0.74
IGL03114:Prkce APN 17 86,961,983 (GRCm39) missense probably damaging 0.97
Pinnacles UTSW 17 86,784,279 (GRCm39) missense probably damaging 1.00
R0063:Prkce UTSW 17 86,789,539 (GRCm39) splice site probably benign
R0063:Prkce UTSW 17 86,789,539 (GRCm39) splice site probably benign
R0403:Prkce UTSW 17 86,476,081 (GRCm39) missense probably damaging 0.98
R0900:Prkce UTSW 17 86,932,886 (GRCm39) missense probably damaging 1.00
R0919:Prkce UTSW 17 86,937,588 (GRCm39) missense probably benign 0.06
R1413:Prkce UTSW 17 86,803,446 (GRCm39) missense possibly damaging 0.81
R1430:Prkce UTSW 17 86,866,565 (GRCm39) splice site probably benign
R1843:Prkce UTSW 17 86,782,974 (GRCm39) nonsense probably null
R2129:Prkce UTSW 17 86,803,463 (GRCm39) missense possibly damaging 0.89
R2341:Prkce UTSW 17 86,781,870 (GRCm39) missense probably damaging 1.00
R2511:Prkce UTSW 17 86,932,754 (GRCm39) missense probably damaging 1.00
R2679:Prkce UTSW 17 86,483,654 (GRCm39) intron probably benign
R3724:Prkce UTSW 17 86,476,051 (GRCm39) nonsense probably null
R3853:Prkce UTSW 17 86,476,277 (GRCm39) missense probably damaging 1.00
R4364:Prkce UTSW 17 86,784,279 (GRCm39) missense probably damaging 1.00
R4467:Prkce UTSW 17 86,927,339 (GRCm39) missense possibly damaging 0.68
R4523:Prkce UTSW 17 86,798,178 (GRCm39) critical splice acceptor site probably null
R4838:Prkce UTSW 17 86,937,511 (GRCm39) missense probably benign 0.07
R5140:Prkce UTSW 17 86,789,570 (GRCm39) missense probably benign 0.12
R5579:Prkce UTSW 17 86,927,376 (GRCm39) missense probably damaging 1.00
R6026:Prkce UTSW 17 86,800,658 (GRCm39) missense probably benign 0.02
R6048:Prkce UTSW 17 86,800,775 (GRCm39) missense probably benign
R6212:Prkce UTSW 17 86,866,729 (GRCm39) missense probably damaging 1.00
R6484:Prkce UTSW 17 86,798,237 (GRCm39) missense probably benign
R6788:Prkce UTSW 17 86,937,489 (GRCm39) missense probably damaging 1.00
R6915:Prkce UTSW 17 86,800,835 (GRCm39) missense probably damaging 1.00
R7349:Prkce UTSW 17 86,800,783 (GRCm39) missense probably benign
R7447:Prkce UTSW 17 86,866,687 (GRCm39) missense probably damaging 1.00
R7566:Prkce UTSW 17 86,800,757 (GRCm39) missense probably benign 0.00
R7577:Prkce UTSW 17 86,800,721 (GRCm39) nonsense probably null
R7638:Prkce UTSW 17 86,476,028 (GRCm39) missense probably benign 0.26
R8237:Prkce UTSW 17 86,866,646 (GRCm39) missense probably damaging 1.00
R8711:Prkce UTSW 17 86,795,625 (GRCm39) missense probably damaging 1.00
R8869:Prkce UTSW 17 86,476,370 (GRCm39) critical splice donor site probably null
R9342:Prkce UTSW 17 86,781,877 (GRCm39) missense probably damaging 1.00
RF010:Prkce UTSW 17 86,795,627 (GRCm39) missense probably damaging 0.97
Posted On 2013-10-07