Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Prkca'

592109

Institutional Source

Beutler Lab

Gene Symbol

Prkca

Ensembl Gene

ENSMUSG00000050965

Gene Name

protein kinase C, alpha

Synonyms

Pkca

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107933387-108343928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108014344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 189 (N189K)

Ref Sequence

ENSEMBL: ENSMUSP00000062392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059595]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059595
AA Change: N189K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: N189K

Domain	Start	End	E-Value	Type
C1	37	86	3.09e-16	SMART
C1	102	151	1.33e-15	SMART
C2	172	275	7.66e-26	SMART
S_TKc	339	597	8.85e-98	SMART
S_TK_X	598	660	1.58e-25	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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 reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974		probably null	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864		probably null	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		probably benign	Het

Other mutations in Prkca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Prkca	APN	11	108343508	missense	probably benign	0.10
IGL00903:Prkca	APN	11	107983974	missense	probably damaging	1.00
IGL01385:Prkca	APN	11	107978352	missense	probably damaging	1.00
IGL01396:Prkca	APN	11	108014322	missense	possibly damaging	0.59
IGL01480:Prkca	APN	11	108192201	missense	probably damaging	1.00
IGL01480:Prkca	APN	11	107986289	missense	possibly damaging	0.93
IGL01516:Prkca	APN	11	107961602	missense	probably null	1.00
IGL01553:Prkca	APN	11	108057834	missense	probably benign	0.15
IGL02975:Prkca	APN	11	108340677	nonsense	probably null
IGL03402:Prkca	APN	11	108340663	missense	probably benign	0.20
R0101:Prkca	UTSW	11	108057800	missense	probably damaging	1.00
R0279:Prkca	UTSW	11	108054111	splice site	probably benign
R0454:Prkca	UTSW	11	107978280	missense	probably benign
R0513:Prkca	UTSW	11	108014376	missense	possibly damaging	0.82
R0711:Prkca	UTSW	11	107981654	missense	probably benign	0.16
R0894:Prkca	UTSW	11	108012692	missense	possibly damaging	0.66
R0966:Prkca	UTSW	11	108014284	missense	possibly damaging	0.56
R1432:Prkca	UTSW	11	107939520	missense	probably benign	0.27
R1518:Prkca	UTSW	11	107978316	missense	probably damaging	1.00
R1667:Prkca	UTSW	11	107983946	missense	probably damaging	1.00
R1795:Prkca	UTSW	11	108012692	missense	possibly damaging	0.66
R1909:Prkca	UTSW	11	107939612	missense	possibly damaging	0.68
R1932:Prkca	UTSW	11	108192149	missense	probably benign	0.13
R2509:Prkca	UTSW	11	107979206	missense	probably damaging	1.00
R3889:Prkca	UTSW	11	107979240	missense	probably damaging	1.00
R4018:Prkca	UTSW	11	107939602	missense	probably damaging	1.00
R4684:Prkca	UTSW	11	107961608	missense	probably damaging	0.99
R5132:Prkca	UTSW	11	108192117	splice site	probably benign
R5298:Prkca	UTSW	11	108012684	missense	probably damaging	0.98
R5546:Prkca	UTSW	11	108053980	missense	probably benign	0.14
R5558:Prkca	UTSW	11	107981647	missense	probably damaging	1.00
R5616:Prkca	UTSW	11	107978343	missense	possibly damaging	0.85
R5626:Prkca	UTSW	11	108057815	missense	possibly damaging	0.94
R5931:Prkca	UTSW	11	108014310	missense	probably benign	0.01
R6061:Prkca	UTSW	11	108057845	missense	probably benign	0.03
R7125:Prkca	UTSW	11	107984022	missense	probably damaging	1.00
R7283:Prkca	UTSW	11	108340645	critical splice donor site	probably null
R7329:Prkca	UTSW	11	108014277	missense	possibly damaging	0.73
R7510:Prkca	UTSW	11	107983994	missense	possibly damaging	0.89
R7890:Prkca	UTSW	11	108012684	missense	probably damaging	0.98
R8769:Prkca	UTSW	11	107951460	splice site	probably benign
R9040:Prkca	UTSW	11	108014360	missense	possibly damaging	0.89
R9096:Prkca	UTSW	11	108014235	missense	probably benign	0.00
R9097:Prkca	UTSW	11	108014235	missense	probably benign	0.00
R9176:Prkca	UTSW	11	107979418	missense	possibly damaging	0.83
R9763:Prkca	UTSW	11	108013041	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGGCAGCTGTTACCTGACAG -3'
(R):5'- CAGGGGCCTCTGACTAAATCTC -3'

Sequencing Primer
(F):5'- AGCTGTTACCTGACAGTAGCCTG -3'
(R):5'- ATCAAGTCAGTGGTGGGT -3'

Posted On

2019-11-12