Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Prkce'

476676

Institutional Source

Beutler Lab

Gene Symbol

Prkce

Ensembl Gene

ENSMUSG00000045038

Gene Name

protein kinase C, epsilon

Synonyms

Pkce, PKCepsilon, PKC[e], 5830406C15Rik

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86167785-86657919 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 86176226 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094874 (fasta)

Gene Model

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

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: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Prkce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03114:Prkce	APN	17	86654555	missense	probably damaging	0.97
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
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

Predicted Primers

Posted On

2017-05-15