Mutagenetix > Incidental Mutation

Incidental Mutation 'R2679:Prkce'

476676

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

040432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86475213-86965347 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 86483654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097274] [ENSMUST00000097275] [ENSMUST00000142003]

AlphaFold

P16054

Predicted Effect

probably benign
Transcript: ENSMUST00000097274

SMART Domains

Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000097275

SMART Domains

Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038

Domain	Start	End	E-Value	Type
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

silent
Transcript: ENSMUST00000142003

SMART Domains

Protein: ENSMUSP00000138615
Gene: ENSMUSG00000045038

Domain	Start	End	E-Value	Type
C2	7	114	5.78e-12	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,042,780 (GRCm39)	V171A	probably benign	Het
Atf7ip	A	T	6: 136,543,649 (GRCm39)	I641L	possibly damaging	Het
Atrn	G	A	2: 130,803,595 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,790,544 (GRCm39)	I145T	probably damaging	Het
Bub3	A	G	7: 131,170,454 (GRCm39)		probably null	Het
Catsperb	T	A	12: 101,429,404 (GRCm39)	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,944,613 (GRCm39)	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,901,079 (GRCm39)	Q998K	probably benign	Het
Cep135	A	T	5: 76,772,507 (GRCm39)	M631L	probably benign	Het
Cit	T	C	5: 116,107,174 (GRCm39)	V1102A	probably benign	Het
Col4a4	G	A	1: 82,507,332 (GRCm39)	T249M	unknown	Het
Cpne6	A	T	14: 55,753,786 (GRCm39)	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,485,894 (GRCm39)	I348V	probably benign	Het
Defb28	T	C	2: 152,360,202 (GRCm39)	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,743,344 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,083,910 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,724,825 (GRCm39)	T476A	probably benign	Het
Enpp5	A	G	17: 44,396,279 (GRCm39)	D397G	probably damaging	Het
Eogt	G	A	6: 97,097,761 (GRCm39)	T279I	probably benign	Het
Fnip2	G	A	3: 79,388,233 (GRCm39)	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435 (GRCm39)	T92S	probably damaging	Het
Gm10110	T	A	14: 90,134,852 (GRCm39)		noncoding transcript	Het
Gria2	A	G	3: 80,648,260 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,528,326 (GRCm39)	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspa1b	T	C	17: 35,176,279 (GRCm39)	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,916,372 (GRCm39)	Y46C	probably damaging	Het
Itga3	A	T	11: 94,959,136 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,880,745 (GRCm39)	R552*	probably null	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Muc4	T	A	16: 32,577,846 (GRCm39)	D2374E	unknown	Het
Myl9	T	A	2: 156,622,426 (GRCm39)	L70Q	probably damaging	Het
Nebl	C	T	2: 17,429,402 (GRCm39)	S243N	probably benign	Het
Nfat5	A	G	8: 108,071,546 (GRCm39)	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,827,380 (GRCm39)	D307V	probably damaging	Het
Nrp2	T	C	1: 62,824,237 (GRCm39)	S781P	probably benign	Het
Nub1	C	T	5: 24,897,923 (GRCm39)	T103I	possibly damaging	Het
Or4b1d	A	T	2: 89,968,889 (GRCm39)	V198D	possibly damaging	Het
Or51h5	T	A	7: 102,577,238 (GRCm39)	Y134*	probably null	Het
Pex5l	A	T	3: 33,136,201 (GRCm39)	M6K	probably benign	Het
Pgm3	A	C	9: 86,451,374 (GRCm39)	C93W	probably benign	Het
Pkhd1	A	G	1: 20,279,406 (GRCm39)	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,408,782 (GRCm39)	L2423P	probably damaging	Het
Ptbp3	A	G	4: 59,494,615 (GRCm39)		probably benign	Het
Ptgis	T	A	2: 167,050,113 (GRCm39)	M339L	probably benign	Het
Pxdn	T	C	12: 30,025,568 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,363,451 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,581,430 (GRCm39)	S1275G	probably benign	Het
Rnf213	C	A	11: 119,350,764 (GRCm39)		probably null	Het
Rtn4rl1	A	T	11: 75,156,552 (GRCm39)	E328V	probably benign	Het
Saraf	C	T	8: 34,632,428 (GRCm39)	T169I	probably damaging	Het
Sbk2	T	A	7: 4,960,119 (GRCm39)		probably null	Het
Setd1a	T	G	7: 127,394,896 (GRCm39)		probably benign	Het
Sit1	A	G	4: 43,483,157 (GRCm39)	Y73H	probably damaging	Het
Slc44a4	T	C	17: 35,142,399 (GRCm39)		probably benign	Het
Spopfm1	A	T	3: 94,173,217 (GRCm39)	Y75F	probably damaging	Het
Tas2r125	A	G	6: 132,887,190 (GRCm39)	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,052,528 (GRCm39)		probably null	Het
Tcf7l1	G	T	6: 72,604,403 (GRCm39)	H580Q	probably benign	Het
Tead1	T	G	7: 112,456,053 (GRCm39)	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947 (GRCm38)	G29D	probably damaging	Het
Trpv4	A	T	5: 114,773,613 (GRCm39)	C250S	probably damaging	Het
U2surp	A	C	9: 95,358,285 (GRCm39)	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,138,360 (GRCm39)		probably benign	Het
Ubl7	A	G	9: 57,821,882 (GRCm39)	D77G	probably damaging	Het
Vmn1r91	T	C	7: 19,835,983 (GRCm39)	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,933,131 (GRCm39)	R230S	possibly damaging	Het
Wdfy3	T	A	5: 102,017,902 (GRCm39)	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,973,895 (GRCm39)	A341V	probably benign	Het
Zfp512	C	T	5: 31,622,798 (GRCm39)	A33V	probably benign	Het

Other mutations in Prkce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Posted On

2017-05-15