Incidental Mutation 'R2511:Prkce'
ID 253044
Institutional Source Beutler Lab
Gene Symbol Prkce
Ensembl Gene ENSMUSG00000045038
Gene Name protein kinase C, epsilon
Synonyms PKCepsilon, PCK epsilon, Pkce, PKC[e], 5830406C15Rik
MMRRC Submission 040417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2511 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 86475213-86965347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86932754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 578 (I578N)
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: I578N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: I578N

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: I578N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: I578N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,097,902 (GRCm39) C100S probably damaging Het
Abcc8 C T 7: 45,800,204 (GRCm39) R526H probably damaging Het
Acad10 G A 5: 121,769,630 (GRCm39) P609S probably benign Het
Acod1 A T 14: 103,288,775 (GRCm39) D95V probably damaging Het
Acsm5 A T 7: 119,129,677 (GRCm39) I130F possibly damaging Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ankar A T 1: 72,697,853 (GRCm39) I791K probably damaging Het
Ano10 A G 9: 122,088,011 (GRCm39) V364A probably damaging Het
Arhgap9 T C 10: 127,164,854 (GRCm39) probably null Het
Arsi G A 18: 61,049,666 (GRCm39) C183Y probably damaging Het
Ascl2 T G 7: 142,521,953 (GRCm39) E97A probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bms1 C T 6: 118,368,114 (GRCm39) probably null Het
Bysl T A 17: 47,915,260 (GRCm39) T163S probably benign Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cc2d2a A T 5: 43,892,737 (GRCm39) Q1433L probably damaging Het
Cchcr1 T C 17: 35,841,410 (GRCm39) S809P probably benign Het
Ccz1 G T 5: 143,949,815 (GRCm39) T70K probably damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cep164 A T 9: 45,686,547 (GRCm39) L729Q probably damaging Het
Clcn6 A G 4: 148,101,951 (GRCm39) probably null Het
Clcn7 T A 17: 25,374,420 (GRCm39) V507E probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Ctso A C 3: 81,840,041 (GRCm39) T24P probably damaging Het
Dis3l2 A T 1: 86,917,980 (GRCm39) N543I probably benign Het
Dnah12 A T 14: 26,491,907 (GRCm39) Y1114F possibly damaging Het
Emx1 A G 6: 85,181,033 (GRCm39) D250G probably benign Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Fam149b A C 14: 20,428,524 (GRCm39) N341T probably damaging Het
Fsip2 A G 2: 82,782,001 (GRCm39) K62R probably damaging Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
Gbp3 A G 3: 142,276,343 (GRCm39) R480G probably benign Het
Get3 A G 8: 85,746,395 (GRCm39) V151A possibly damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm9930 T C 10: 9,410,446 (GRCm39) noncoding transcript Het
Gstt4 C T 10: 75,650,959 (GRCm39) C221Y probably benign Het
Gzmg A T 14: 56,395,832 (GRCm39) D42E probably benign Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Hs2st1 G A 3: 144,275,691 (GRCm39) probably benign Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Irf1 T C 11: 53,664,617 (GRCm39) V108A probably damaging Het
Jsrp1 C G 10: 80,648,140 (GRCm39) S36T probably benign Het
Kcnq5 T A 1: 21,576,006 (GRCm39) R233* probably null Het
Kif7 T C 7: 79,352,012 (GRCm39) K917E probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Lifr A G 15: 7,196,397 (GRCm39) T194A probably benign Het
Ltbp2 T C 12: 84,851,183 (GRCm39) probably null Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Man2c1 A G 9: 57,048,672 (GRCm39) probably null Het
Met T C 6: 17,491,966 (GRCm39) S243P probably damaging Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mre11a A C 9: 14,707,065 (GRCm39) probably null Het
Mroh9 A G 1: 162,866,514 (GRCm39) S710P probably benign Het
Mvk C A 5: 114,588,459 (GRCm39) Y116* probably null Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncf1 T C 5: 134,254,552 (GRCm39) D184G probably damaging Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or2ag18 G T 7: 106,405,168 (GRCm39) P167H probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4k51 T A 2: 111,584,661 (GRCm39) N22K probably benign Het
Or52b1 A T 7: 104,978,817 (GRCm39) I194N probably damaging Het
Or5b24 T A 19: 12,912,537 (GRCm39) M145K possibly damaging Het
Or5w14 T C 2: 87,541,392 (GRCm39) N286S probably damaging Het
Pcdh1 G A 18: 38,332,532 (GRCm39) T296M possibly damaging Het
Pcdh15 A G 10: 74,481,828 (GRCm39) D391G possibly damaging Het
Pcdha7 C A 18: 37,107,786 (GRCm39) D270E probably damaging Het
Pgam1 C A 19: 41,904,315 (GRCm39) S137R probably damaging Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plce1 T G 19: 38,748,498 (GRCm39) I1729S probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prss58 A C 6: 40,874,734 (GRCm39) S36A probably damaging Het
Ptprm T C 17: 67,000,773 (GRCm39) H1128R probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rubcn T C 16: 32,667,624 (GRCm39) N179S probably damaging Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Sh3bp5 G A 14: 31,133,586 (GRCm39) T82M probably damaging Het
Shank2 A G 7: 143,965,314 (GRCm39) Y974C probably damaging Het
Slc9c1 T C 16: 45,365,099 (GRCm39) I144T possibly damaging Het
Slf2 T C 19: 44,930,045 (GRCm39) I374T possibly damaging Het
Snx13 A G 12: 35,188,080 (GRCm39) D786G probably benign Het
Spcs3 A G 8: 54,976,389 (GRCm39) V151A possibly damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stac3 T C 10: 127,339,787 (GRCm39) probably null Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgm5 T C 2: 120,907,429 (GRCm39) E98G possibly damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmem94 G A 11: 115,682,787 (GRCm39) R608H probably damaging Het
Tnrc6a G A 7: 122,770,315 (GRCm39) V702I probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ugt1a2 A G 1: 88,128,846 (GRCm39) Y163C probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn2r50 T A 7: 9,781,640 (GRCm39) E368D possibly damaging Het
Vmn2r59 T C 7: 41,693,190 (GRCm39) N470S probably damaging Het
Vps45 T C 3: 95,948,757 (GRCm39) T333A probably benign Het
Zbtb44 T A 9: 30,965,539 (GRCm39) D316E probably damaging Het
Zdhhc1 C T 8: 106,210,190 (GRCm39) V76M probably benign Het
Zfp235 T C 7: 23,841,549 (GRCm39) F656S probably 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
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'- GCAGATCTCACTGTGGAGAGAG -3'
(R):5'- ATGCTGACAGCTTCCTTGC -3'

Sequencing Primer
(F):5'- GGATAGCGGCTCCCACACTTAAG -3'
(R):5'- TTCCTTGCTAAGCCAGACAGGATAG -3'
Posted On 2014-12-04