Mutagenetix > Incidental Mutation

Incidental Mutation 'R9342:Prkce'

707602

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86475213-86965347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86781877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 182 (Y182C)

Ref Sequence

ENSEMBL: ENSMUSP00000094873 (fasta)

Gene Model

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

AlphaFold

P16054

Predicted Effect

probably damaging
Transcript: ENSMUST00000097274
AA Change: Y182C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: Y182C

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 damaging
Transcript: ENSMUST00000097275
AA Change: Y182C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: Y182C

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Aars2	A	G	17: 45,818,002 (GRCm39)	N75D	possibly damaging	Het
Abcf2	G	A	5: 24,778,475 (GRCm39)	R228C	probably benign	Het
Agfg2	A	G	5: 137,652,114 (GRCm39)	L415P	probably benign	Het
Alpi	A	G	1: 87,026,386 (GRCm39)	L535P	unknown	Het
Anxa9	T	G	3: 95,210,359 (GRCm39)	T69P	probably damaging	Het
Arrb2	T	A	11: 70,327,463 (GRCm39)	D79E	probably benign	Het
Bcat1	A	G	6: 144,994,332 (GRCm39)	V55A	probably benign	Het
Cacna1c	A	G	6: 119,034,335 (GRCm39)	L64P		Het
Cd247	A	T	1: 165,682,759 (GRCm39)	D28V	probably damaging	Het
Celsr2	T	A	3: 108,320,442 (GRCm39)	N790I	probably damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cmtr2	T	C	8: 110,949,078 (GRCm39)	Y463H	possibly damaging	Het
Col6a6	T	C	9: 105,663,172 (GRCm39)	T122A	probably benign	Het
Cubn	T	A	2: 13,463,767 (GRCm39)	D646V	probably damaging	Het
Dab2ip	T	A	2: 35,613,105 (GRCm39)	L1062Q	possibly damaging	Het
Dnajb4	T	C	3: 151,892,272 (GRCm39)	N187S	probably benign	Het
Dock10	A	T	1: 80,570,360 (GRCm39)	F365L	probably benign	Het
Erich6	G	A	3: 58,534,101 (GRCm39)	Q309*	probably null	Het
Ext1	T	C	15: 53,208,524 (GRCm39)	H79R	probably benign	Het
Fam187b	T	A	7: 30,677,185 (GRCm39)	C231*	probably null	Het
Fbh1	T	C	2: 11,754,414 (GRCm39)	I775V	probably benign	Het
Fbxo15	T	A	18: 84,983,609 (GRCm39)	M319K	unknown	Het
Fbxo9	A	T	9: 78,002,520 (GRCm39)	M187K	possibly damaging	Het
Fer1l4	T	C	2: 155,877,196 (GRCm39)	D1113G	probably benign	Het
Fsip2	A	T	2: 82,818,747 (GRCm39)	T4827S	possibly damaging	Het
Gm49398	A	T	13: 61,435,478 (GRCm39)	L7Q	probably damaging	Het
H2-M10.4	A	T	17: 36,771,285 (GRCm39)	W298R	probably damaging	Het
Hoxd10	A	G	2: 74,522,982 (GRCm39)	E220G	probably benign	Het
Hrh2	T	G	13: 54,368,222 (GRCm39)	L66R	probably damaging	Het
Igf1r	A	G	7: 67,844,746 (GRCm39)	T840A	probably benign	Het
Iqca1	A	G	1: 90,072,688 (GRCm39)	V64A	probably damaging	Het
Klc2	A	G	19: 5,158,659 (GRCm39)	S612P	probably benign	Het
Klf15	A	G	6: 90,443,851 (GRCm39)	E142G	probably damaging	Het
Krt40	T	A	11: 99,429,579 (GRCm39)	T332S	probably damaging	Het
Lrrc9	T	C	12: 72,506,767 (GRCm39)	F348S	probably damaging	Het
Lrrn4	T	C	2: 132,712,290 (GRCm39)	D511G	probably benign	Het
Lrtm2	T	C	6: 119,297,934 (GRCm39)	I36V	probably benign	Het
Lsm10	T	C	4: 125,991,860 (GRCm39)	L72P	probably damaging	Het
Mab21l3	T	A	3: 101,742,519 (GRCm39)	S14C	possibly damaging	Het
Map2k4	T	C	11: 65,581,569 (GRCm39)	K381R	probably benign	Het
Mcidas	A	G	13: 113,130,915 (GRCm39)	D80G	probably damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mga	A	G	2: 119,778,656 (GRCm39)	D2067G	probably benign	Het
Ms4a19	T	A	19: 11,119,775 (GRCm39)	T52S	possibly damaging	Het
Msc	G	T	1: 14,825,707 (GRCm39)	P89Q	probably benign	Het
Nalf1	C	A	8: 9,821,006 (GRCm39)	A5S	probably damaging	Het
Or14c44	A	G	7: 86,062,430 (GRCm39)	I287V	probably benign	Het
Or2d3c	A	T	7: 106,526,564 (GRCm39)	I34N	possibly damaging	Het
Or5t7	A	T	2: 86,507,494 (GRCm39)	L61Q	probably damaging	Het
Plekhg6	T	C	6: 125,340,023 (GRCm39)	D779G	probably damaging	Het
Pnpla2	C	A	7: 141,035,331 (GRCm39)	Y44*	probably null	Het
Ppp1r17	T	A	6: 56,003,524 (GRCm39)	D112E	probably damaging	Het
Prdm2	A	G	4: 142,861,478 (GRCm39)	I604T	probably damaging	Het
Prokr2	G	A	2: 132,182,790 (GRCm39)	S189F	possibly damaging	Het
Qser1	A	T	2: 104,618,164 (GRCm39)	S793T	probably benign	Het
Reck	T	C	4: 43,943,301 (GRCm39)	F951S	probably benign	Het
Rev3l	T	C	10: 39,697,458 (GRCm39)	S652P	probably benign	Het
Rtl1	A	C	12: 109,558,884 (GRCm39)	L985R	probably damaging	Het
Sardh	T	C	2: 27,120,869 (GRCm39)	E385G	possibly damaging	Het
Sfmbt1	G	T	14: 30,519,599 (GRCm39)	W440L	possibly damaging	Het
Slc4a7	T	A	14: 14,772,541 (GRCm38)	C683*	probably null	Het
Slc51a	A	G	16: 32,298,517 (GRCm39)	L80P	possibly damaging	Het
Slco3a1	C	A	7: 74,154,037 (GRCm39)	L178F	probably damaging	Het
Spata6	T	A	4: 111,636,389 (GRCm39)	C227S	possibly damaging	Het
Tbc1d30	A	T	10: 121,103,366 (GRCm39)	Y555*	probably null	Het
Tcf7l2	A	G	19: 55,731,517 (GRCm39)	Q90R	probably benign	Het
Tff3	A	C	17: 31,346,423 (GRCm39)	S50A	probably benign	Het
Tnrc6c	T	C	11: 117,630,720 (GRCm39)	M1027T	probably benign	Het
Ttc12	A	G	9: 49,351,680 (GRCm39)	F606L	probably benign	Het
Uqcc3	G	A	19: 8,858,090 (GRCm39)	Q34*	probably null	Het
Veph1	T	A	3: 66,151,959 (GRCm39)	I157F	probably damaging	Het
Vmn2r14	G	A	5: 109,368,428 (GRCm39)	T188I	probably damaging	Het
Vmn2r67	A	G	7: 84,785,788 (GRCm39)	I739T	probably benign	Het
Vmn2r68	A	G	7: 84,882,993 (GRCm39)	F253S	probably benign	Het
Vmn2r74	T	C	7: 85,606,624 (GRCm39)	I241V	probably benign	Het
Vmn2r97	A	G	17: 19,149,368 (GRCm39)	E252G	probably benign	Het
Vps13b	T	C	15: 35,455,200 (GRCm39)	V703A	possibly damaging	Het
Vps25	T	A	11: 101,149,623 (GRCm39)	L149Q	probably damaging	Het
Xirp1	T	C	9: 119,845,950 (GRCm39)	T978A	probably benign	Het
Xpnpep1	T	A	19: 52,993,248 (GRCm39)	I360F	probably benign	Het
Zfpm1	C	T	8: 123,061,308 (GRCm39)	T291M	probably benign	Het
Zkscan8	A	G	13: 21,710,702 (GRCm39)	V136A	probably benign	Het
Zscan18	A	G	7: 12,505,612 (GRCm39)	Y592H	probably damaging	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
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
RF010:Prkce	UTSW	17	86,795,627 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTGTTGGGGTGCACTAACAC -3'
(R):5'- GATGCGTCTGTCTGGAAGAAC -3'

Sequencing Primer
(F):5'- GTGCACTAACACCACCGTTCTC -3'
(R):5'- ACCTGGACCTGCTATGTAGATCAG -3'

Posted On

2022-04-18