Incidental Mutation 'R7447:Prkce'
ID 577410
Institutional Source Beutler Lab
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 # R7447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 86475213-86965347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86866687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 516 (V516F)
Ref Sequence ENSEMBL: ENSMUSP00000094873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097274] [ENSMUST00000097275]
AlphaFold P16054
Predicted Effect probably damaging
Transcript: ENSMUST00000097274
AA Change: V516F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: V516F

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: V516F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: V516F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A T 15: 76,479,396 (GRCm39) I484F possibly damaging Het
Ago2 A T 15: 73,009,881 (GRCm39) N100K probably benign Het
Appl1 T A 14: 26,681,409 (GRCm39) K130* probably null Het
Arhgap39 G A 15: 76,649,797 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,245,802 (GRCm39) probably null Het
Camta1 A T 4: 151,168,327 (GRCm39) V1332E probably benign Het
Cd3g A G 9: 44,884,857 (GRCm39) L129P probably damaging Het
Cd80 T G 16: 38,294,251 (GRCm39) S45A probably benign Het
Cdk12 A T 11: 98,136,106 (GRCm39) Q1120L unknown Het
Clip1 G A 5: 123,791,696 (GRCm39) S158F probably benign Het
Cntn3 C A 6: 102,255,416 (GRCm39) E161* probably null Het
Cyp3a59 A C 5: 146,024,215 (GRCm39) K67T probably benign Het
Dmxl1 T C 18: 49,997,681 (GRCm39) L623P probably damaging Het
Drd3 T A 16: 43,637,426 (GRCm39) Y208* probably null Het
Dusp10 A T 1: 183,801,153 (GRCm39) M307L probably benign Het
Dync2li1 A T 17: 84,955,141 (GRCm39) I267L possibly damaging Het
Dynlt2b T A 16: 32,244,089 (GRCm39) V95E probably damaging Het
Edn3 C A 2: 174,603,544 (GRCm39) C97* probably null Het
Ehbp1l1 T A 19: 5,769,456 (GRCm39) T616S possibly damaging Het
Eif2a C T 3: 58,452,963 (GRCm39) T246I probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Errfi1 A G 4: 150,951,108 (GRCm39) T179A probably damaging Het
Esyt3 G A 9: 99,203,615 (GRCm39) L450F probably damaging Het
Evx2 A G 2: 74,489,448 (GRCm39) S106P probably benign Het
Fam83a T G 15: 57,873,086 (GRCm39) V305G probably benign Het
Fem1al T C 11: 29,774,122 (GRCm39) D445G probably benign Het
Gpr171 T A 3: 59,005,860 (GRCm39) probably null Het
Grip1 A G 10: 119,922,871 (GRCm39) T1106A probably benign Het
Hecw1 A G 13: 14,531,789 (GRCm39) Y162H probably damaging Het
Hephl1 C T 9: 15,009,178 (GRCm39) probably null Het
Hsp90aa1 A G 12: 110,658,562 (GRCm39) I693T possibly damaging Het
Ifit1bl2 T A 19: 34,596,974 (GRCm39) D214V probably damaging Het
Igsf10 T C 3: 59,239,222 (GRCm39) M320V probably benign Het
Kcnq2 A G 2: 180,754,887 (GRCm39) L220P probably damaging Het
Kpna1 C A 16: 35,850,009 (GRCm39) Q372K probably damaging Het
Lilrb4a T G 10: 51,367,149 (GRCm39) probably null Het
Ly75 C A 2: 60,164,818 (GRCm39) E787* probably null Het
Magi1 T G 6: 93,722,562 (GRCm39) S666R possibly damaging Het
Mif C A 10: 75,695,687 (GRCm39) A39S possibly damaging Het
Mob4 G A 1: 55,170,625 (GRCm39) probably benign Het
Mtmr4 G T 11: 87,502,727 (GRCm39) C927F probably damaging Het
Myh1 A G 11: 67,110,006 (GRCm39) K1398R probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Nckap5l G A 15: 99,325,357 (GRCm39) P382L probably damaging Het
Ngly1 T C 14: 16,290,844 (GRCm38) I442T probably damaging Het
Nhsl3 C A 4: 129,115,835 (GRCm39) R988L possibly damaging Het
Nlrp1a T C 11: 70,983,237 (GRCm39) Y1243C probably damaging Het
Or8k53 T A 2: 86,177,150 (GRCm39) H320L possibly damaging Het
Pcsk5 C T 19: 17,487,600 (GRCm39) G1027D probably benign Het
Pla2g2c T A 4: 138,458,927 (GRCm39) I11N probably benign Het
Polr3d A G 14: 70,677,240 (GRCm39) I331T probably damaging Het
Ppp4r4 A G 12: 103,551,985 (GRCm39) I293M possibly damaging Het
Prss27 T A 17: 24,264,683 (GRCm39) L282Q probably damaging Het
Pxdn A G 12: 30,034,926 (GRCm39) Y261C probably damaging Het
R3hcc1l T C 19: 42,551,101 (GRCm39) S33P probably benign Het
Rab11fip3 G C 17: 26,287,848 (GRCm39) R102G possibly damaging Het
Rabggta A T 14: 55,956,773 (GRCm39) N310K probably null Het
Rbbp8 T A 18: 11,793,934 (GRCm39) D15E probably benign Het
Rbm5 T C 9: 107,623,378 (GRCm39) Y486C probably damaging Het
Rptor T A 11: 119,775,805 (GRCm39) F992Y probably benign Het
Slc29a2 T G 19: 5,076,445 (GRCm39) L111R probably damaging Het
Slc39a11 T A 11: 113,452,849 (GRCm39) I31L probably benign Het
Slc6a20a T A 9: 123,485,289 (GRCm39) N311I possibly damaging Het
Slc8a1 A G 17: 81,956,435 (GRCm39) F201S probably damaging Het
Smtn C A 11: 3,480,196 (GRCm39) V342L probably benign Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tchp A G 5: 114,853,716 (GRCm39) T267A probably benign Het
Tes3-ps A G 13: 49,647,508 (GRCm39) E128G possibly damaging Het
Tigar C T 6: 127,065,129 (GRCm39) G173E probably benign Het
Tmem171 T C 13: 98,824,862 (GRCm39) N256S probably benign Het
Tmem204 A G 17: 25,277,270 (GRCm39) I205T probably damaging Het
Tmem63a A G 1: 180,785,588 (GRCm39) K240R probably benign Het
Tns2 C T 15: 102,019,351 (GRCm39) T446M probably damaging Het
Tnxb A T 17: 34,937,444 (GRCm39) N2931I probably damaging Het
Trrap G T 5: 144,776,284 (GRCm39) R2941L probably damaging Het
Ttc8 A T 12: 98,910,131 (GRCm39) R179S probably damaging Het
Ttll12 G T 15: 83,471,176 (GRCm39) T234N probably damaging Het
Ttn G T 2: 76,577,576 (GRCm39) T24439K probably damaging Het
Ube2z A T 11: 95,946,736 (GRCm39) I246N possibly damaging Het
Usp15 A G 10: 123,011,786 (GRCm39) Y104H probably damaging Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Usp5 G A 6: 124,798,077 (GRCm39) A436V probably damaging Het
Utp20 A G 10: 88,608,354 (GRCm39) L1561S probably damaging Het
Xrn1 A G 9: 95,927,547 (GRCm39) M1444V probably benign Het
Zfp236 G T 18: 82,651,815 (GRCm39) Q885K probably damaging Het
Zfp831 C A 2: 174,487,896 (GRCm39) P857Q possibly damaging Het
Other mutations in Prkce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Prkce APN 17 86,932,890 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGGATCACCAGAGGATAGCTG -3'
(R):5'- GTGATAAACACCCCTTCATGC -3'

Sequencing Primer
(F):5'- ATAGCTGGCCCCAAGTAGGAC -3'
(R):5'- ACCACCAAGTCTTTCTGTATGC -3'
Posted On 2019-10-07