Incidental Mutation 'IGL03114:Prkce'
ID419319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkce
Ensembl Gene ENSMUSG00000045038
Gene Nameprotein kinase C, epsilon
SynonymsPkce, PKCepsilon, PKC[e], 5830406C15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03114
Quality Score
Status
Chromosome17
Chromosomal Location86167785-86657919 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86654555 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 694 (D694E)
Ref Sequence ENSEMBL: ENSMUSP00000094874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097274] [ENSMUST00000097275]
Predicted Effect probably damaging
Transcript: ENSMUST00000097274
AA Change: D694E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: D694E

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: D694E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: D694E

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A T 19: 29,717,132 S1654T probably benign Het
Abca13 T A 11: 9,528,999 H4282Q probably benign Het
Acta2 A G 19: 34,244,910 probably null Het
Arl10 A G 13: 54,575,766 probably benign Het
Avpr1a A G 10: 122,449,718 Y305C probably damaging Het
Bmpr2 T A 1: 59,867,444 N565K probably damaging Het
Boc A T 16: 44,486,752 S1035R probably benign Het
Ccdc7a T C 8: 129,026,689 N187S possibly damaging Het
Cntn5 C T 9: 9,748,452 E680K probably damaging Het
Copa T A 1: 172,119,268 Y1014* probably null Het
Csmd3 A G 15: 47,820,451 S1662P probably damaging Het
Cyp2e1 T C 7: 140,773,129 F360L possibly damaging Het
Efnb3 A T 11: 69,556,802 probably benign Het
Egf A T 3: 129,736,880 L211Q probably damaging Het
Eno1 G A 4: 150,241,126 R56H probably benign Het
Fyb2 A G 4: 104,995,778 T552A probably damaging Het
Git2 G A 5: 114,733,857 probably benign Het
Gm5538 A T 3: 59,743,723 I89F possibly damaging Het
Gm5771 T A 6: 41,397,078 C205S probably damaging Het
Gtf2ird2 A G 5: 134,216,910 probably null Het
Hyal4 A T 6: 24,755,965 I61L probably benign Het
Kat14 T C 2: 144,375,965 probably null Het
Kif13b T C 14: 64,788,448 V1418A probably benign Het
Lcn12 T C 2: 25,493,262 K35E probably benign Het
Lyrm7 G T 11: 54,850,372 N45K possibly damaging Het
Micalcl G T 7: 112,397,557 G559V probably damaging Het
Mtrr A T 13: 68,564,322 C648* probably null Het
Muc5b C A 7: 141,858,819 S1834* probably null Het
Mup16 G A 4: 61,518,013 T101M probably benign Het
Myof A T 19: 37,903,861 L1148Q probably damaging Het
Nags A T 11: 102,148,988 I501F probably damaging Het
Nbeal1 A T 1: 60,278,727 Y672F probably damaging Het
Ncapg2 A G 12: 116,452,373 probably benign Het
Obscn A G 11: 59,000,539 S7056P unknown Het
Olfr593 T C 7: 103,212,721 I287T probably damaging Het
Pde2a C A 7: 101,508,683 probably benign Het
Piezo2 T C 18: 63,030,272 probably null Het
Pkhd1 C A 1: 20,198,171 D3328Y probably damaging Het
Plxdc2 T C 2: 16,650,124 V178A probably damaging Het
Prdx3 T C 19: 60,873,118 probably benign Het
Ptdss1 T A 13: 66,993,994 Y405* probably null Het
Rad54l A T 4: 116,098,532 W608R probably damaging Het
Rassf6 G T 5: 90,608,790 probably benign Het
Sema5a A T 15: 32,673,427 I804F probably damaging Het
Slc15a2 A T 16: 36,751,905 I668N probably damaging Het
Thsd7b A G 1: 130,188,551 E1347G probably benign Het
Tmco3 T C 8: 13,298,205 probably benign Het
Ttn T C 2: 76,721,652 M31214V probably null Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Ugt2b5 T C 5: 87,128,350 Y355C probably damaging Het
Usp48 C A 4: 137,656,125 T1031K probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn1r202 T A 13: 22,501,330 probably benign Het
Vmn2r90 T C 17: 17,733,509 I645T probably damaging Het
Vps18 T C 2: 119,293,651 V353A possibly damaging Het
Vwf C T 6: 125,599,363 Q469* probably null Het
Other mutations in Prkce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Prkce APN 17 86625462 missense probably damaging 0.99
IGL01401:Prkce APN 17 86168840 missense probably damaging 1.00
IGL01508:Prkce APN 17 86630085 missense probably damaging 1.00
IGL02500:Prkce APN 17 86168914 missense probably benign 0.16
IGL02957:Prkce APN 17 86496026 missense possibly damaging 0.74
Pinnacles UTSW 17 86476851 missense probably damaging 1.00
R0063:Prkce UTSW 17 86482111 splice site probably benign
R0063:Prkce UTSW 17 86482111 splice site probably benign
R0403:Prkce UTSW 17 86168653 missense probably damaging 0.98
R0900:Prkce UTSW 17 86625458 missense probably damaging 1.00
R0919:Prkce UTSW 17 86630160 missense probably benign 0.06
R1413:Prkce UTSW 17 86496018 missense possibly damaging 0.81
R1430:Prkce UTSW 17 86559137 splice site probably benign
R1843:Prkce UTSW 17 86475546 nonsense probably null
R2129:Prkce UTSW 17 86496035 missense possibly damaging 0.89
R2341:Prkce UTSW 17 86474442 missense probably damaging 1.00
R2511:Prkce UTSW 17 86625326 missense probably damaging 1.00
R2679:Prkce UTSW 17 86176226 intron probably benign
R3724:Prkce UTSW 17 86168623 nonsense probably null
R3853:Prkce UTSW 17 86168849 missense probably damaging 1.00
R4364:Prkce UTSW 17 86476851 missense probably damaging 1.00
R4467:Prkce UTSW 17 86619911 missense possibly damaging 0.68
R4523:Prkce UTSW 17 86490750 critical splice acceptor site probably null
R4838:Prkce UTSW 17 86630083 missense probably benign 0.07
R5140:Prkce UTSW 17 86482142 missense probably benign 0.12
R5579:Prkce UTSW 17 86619948 missense probably damaging 1.00
R6026:Prkce UTSW 17 86493230 missense probably benign 0.02
R6048:Prkce UTSW 17 86493347 missense probably benign
R6212:Prkce UTSW 17 86559301 missense probably damaging 1.00
R6484:Prkce UTSW 17 86490809 missense probably benign
R6788:Prkce UTSW 17 86630061 missense probably damaging 1.00
R6915:Prkce UTSW 17 86493407 missense probably damaging 1.00
R7349:Prkce UTSW 17 86493355 missense probably benign
R7447:Prkce UTSW 17 86559259 missense probably damaging 1.00
R7566:Prkce UTSW 17 86493329 missense probably benign 0.00
R7577:Prkce UTSW 17 86493293 nonsense probably null
R7638:Prkce UTSW 17 86168600 missense probably benign 0.26
R8237:Prkce UTSW 17 86559218 missense probably damaging 1.00
RF010:Prkce UTSW 17 86488199 missense probably damaging 0.97
Posted On2016-08-02