Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Prkce'

43815

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

038355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0063 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

86475213-86965347 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 86789539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094874 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
B4gat1	T	A	19: 5,089,735 (GRCm39)	L244*	probably null	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Btn1a1	C	T	13: 23,649,267 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cep164	A	G	9: 45,679,916 (GRCm39)	S1267P	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col3a1	T	C	1: 45,369,701 (GRCm39)		probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece1	C	T	4: 137,675,892 (GRCm39)	T422M	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Il17rd	G	A	14: 26,804,690 (GRCm39)	C88Y	probably damaging	Het
Il17rd	C	A	14: 26,804,691 (GRCm39)	C88*	probably null	Het
Ino80c	A	G	18: 24,239,681 (GRCm39)	F160S	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irf2bp1	C	T	7: 18,739,772 (GRCm39)	R471C	possibly damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Mast4	C	A	13: 103,470,723 (GRCm39)		probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Opn5	T	C	17: 42,907,517 (GRCm39)	S120G	probably damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Rnh1	A	T	7: 140,744,109 (GRCm39)		probably null	Het
Rtn4	T	A	11: 29,655,527 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tdpoz1	A	T	3: 93,578,121 (GRCm39)	M221K	probably benign	Het
Tgm7	G	T	2: 120,924,577 (GRCm39)	H533Q	probably benign	Het
Timm29	C	A	9: 21,504,304 (GRCm39)	A17E	probably benign	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Tpx2	A	G	2: 152,722,043 (GRCm39)	T212A	probably damaging	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vmn2r5	T	A	3: 64,411,221 (GRCm39)	E449V	probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	Het
Zfp53	A	C	17: 21,728,367 (GRCm39)	R133S	probably benign	Het
Zfp787	C	T	7: 6,135,322 (GRCm39)		probably null	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
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
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'- GCTAGACCTCTGTGCAACAAAGCC -3'
(R):5'- GGGAAGAGACTCACCTTTACACTGC -3'

Sequencing Primer
(F):5'- ACCCAGTGATGCCTTGTGAC -3'
(R):5'- TTACACTGCAAGCCCTGC -3'

Posted On

2013-05-29