Incidental Mutation 'R0900:Prkce'
ID 83868
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 # R0900 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 86475213-86965347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86932886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 622 (D622V)
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: D622V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: D622V

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: D622V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: D622V

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: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,904,359 (GRCm39) F144I probably damaging Het
Als2cl A G 9: 110,719,496 (GRCm39) R468G possibly damaging Het
Arsk C A 13: 76,246,576 (GRCm39) probably benign Het
Cacna1d T C 14: 29,833,039 (GRCm39) H912R probably damaging Het
Ccr1 A T 9: 123,764,371 (GRCm39) V53D possibly damaging Het
Cfap91 G A 16: 38,156,764 (GRCm39) S47L possibly damaging Het
Clec2d G A 6: 129,160,076 (GRCm39) R30K probably benign Het
Col12a1 A G 9: 79,591,535 (GRCm39) V975A possibly damaging Het
Col4a1 AGCCAGGGATGCCAGG AGCCAGG 8: 11,268,014 (GRCm39) probably benign Het
Cul7 T C 17: 46,969,263 (GRCm39) S907P probably benign Het
Depdc1b A T 13: 108,498,794 (GRCm39) H159L possibly damaging Het
Dhx57 T C 17: 80,583,011 (GRCm39) H198R probably benign Het
Dpp7 T C 2: 25,246,311 (GRCm39) D10G probably damaging Het
Esp18 G A 17: 39,719,023 (GRCm39) M7I possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam167a A G 14: 63,689,828 (GRCm39) T42A probably damaging Het
Gm973 A G 1: 59,605,827 (GRCm39) R553G probably benign Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Jag1 CTTT CTTTT 2: 136,932,802 (GRCm39) probably null Het
Limk2 A G 11: 3,300,731 (GRCm39) F204L probably damaging Het
Lmo7 A G 14: 102,124,624 (GRCm39) D361G probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Or52e2 T A 7: 102,804,520 (GRCm39) M145L probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh18 A T 3: 49,711,252 (GRCm39) F21Y probably benign Het
Pcna-ps2 T A 19: 9,261,487 (GRCm39) Y249N probably damaging Het
Prss47 A C 13: 65,197,208 (GRCm39) V176G possibly damaging Het
Prss55 C T 14: 64,314,627 (GRCm39) R181H probably benign Het
Prtg A T 9: 72,752,225 (GRCm39) I204L probably benign Het
Pura T C 18: 36,420,720 (GRCm39) I169T probably damaging Het
Rttn C T 18: 89,119,815 (GRCm39) T1750I probably benign Het
Slc25a26 T A 6: 94,484,639 (GRCm39) S60T probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem94 T A 11: 115,682,804 (GRCm39) C614S probably benign Het
Trim12a T C 7: 103,953,469 (GRCm39) N214S probably benign Het
Ube3c T C 5: 29,806,344 (GRCm39) Y329H probably benign Het
Ubxn2a T C 12: 4,952,257 (GRCm39) K2E probably damaging Het
Unc80 A T 1: 66,710,757 (GRCm39) E2675D probably benign Het
Usf3 C T 16: 44,036,321 (GRCm39) P267L probably benign Het
Vmn1r129 A T 7: 21,094,635 (GRCm39) Y194* probably null Het
Zfp750 T C 11: 121,403,807 (GRCm39) E356G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTTTCCCCGCACAGATCCTACAG -3'
(R):5'- TGGTGAGCACACAGACACACAG -3'

Sequencing Primer
(F):5'- CGCACAGATCCTACAGGAGTTG -3'
(R):5'- cagacaggaagacagacagac -3'
Posted On 2013-11-08