Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Prkca'

39907

Institutional Source

Beutler Lab

Gene Symbol

Prkca

Ensembl Gene

ENSMUSG00000050965

Gene Name

protein kinase C, alpha

Synonyms

Pkca

MMRRC Submission

038654-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107824213-108234754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107869106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000097875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059595] [ENSMUST00000100302]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059595
AA Change: V493A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: V493A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100302
AA Change: V69A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097875
Gene: ENSMUSG00000050965
AA Change: V69A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	2	173	9.3e-44	PFAM
Pfam:Pkinase_Tyr	3	159	3.7e-25	PFAM
S_TK_X	174	236	1.58e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134910

Coding Region Coverage

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

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 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gad1	T	A	2: 70,409,545 (GRCm39)	M212K	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,517,625 (GRCm39)	D275A	probably damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itgam	A	T	7: 127,707,152 (GRCm39)	N660I	probably benign	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Lrrc8c	A	C	5: 105,754,965 (GRCm39)	K247Q	probably damaging	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Or5bw2	C	T	7: 6,573,359 (GRCm39)	A123V	probably damaging	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Terf2	C	T	8: 107,822,842 (GRCm39)	W100*	probably null	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly damaging	Het

Other mutations in Prkca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Prkca	APN	11	108,234,334 (GRCm39)	missense	probably benign	0.10
IGL00903:Prkca	APN	11	107,874,800 (GRCm39)	missense	probably damaging	1.00
IGL01385:Prkca	APN	11	107,869,178 (GRCm39)	missense	probably damaging	1.00
IGL01396:Prkca	APN	11	107,905,148 (GRCm39)	missense	possibly damaging	0.59
IGL01480:Prkca	APN	11	107,877,115 (GRCm39)	missense	possibly damaging	0.93
IGL01480:Prkca	APN	11	108,083,027 (GRCm39)	missense	probably damaging	1.00
IGL01516:Prkca	APN	11	107,852,428 (GRCm39)	missense	probably null	1.00
IGL01553:Prkca	APN	11	107,948,660 (GRCm39)	missense	probably benign	0.15
IGL02975:Prkca	APN	11	108,231,503 (GRCm39)	nonsense	probably null
IGL03402:Prkca	APN	11	108,231,489 (GRCm39)	missense	probably benign	0.20
R0101:Prkca	UTSW	11	107,948,626 (GRCm39)	missense	probably damaging	1.00
R0279:Prkca	UTSW	11	107,944,937 (GRCm39)	splice site	probably benign
R0513:Prkca	UTSW	11	107,905,202 (GRCm39)	missense	possibly damaging	0.82
R0711:Prkca	UTSW	11	107,872,480 (GRCm39)	missense	probably benign	0.16
R0894:Prkca	UTSW	11	107,903,518 (GRCm39)	missense	possibly damaging	0.66
R0966:Prkca	UTSW	11	107,905,110 (GRCm39)	missense	possibly damaging	0.56
R1432:Prkca	UTSW	11	107,830,346 (GRCm39)	missense	probably benign	0.27
R1518:Prkca	UTSW	11	107,869,142 (GRCm39)	missense	probably damaging	1.00
R1667:Prkca	UTSW	11	107,874,772 (GRCm39)	missense	probably damaging	1.00
R1795:Prkca	UTSW	11	107,903,518 (GRCm39)	missense	possibly damaging	0.66
R1909:Prkca	UTSW	11	107,830,438 (GRCm39)	missense	possibly damaging	0.68
R1932:Prkca	UTSW	11	108,082,975 (GRCm39)	missense	probably benign	0.13
R2509:Prkca	UTSW	11	107,870,032 (GRCm39)	missense	probably damaging	1.00
R3889:Prkca	UTSW	11	107,870,066 (GRCm39)	missense	probably damaging	1.00
R4018:Prkca	UTSW	11	107,830,428 (GRCm39)	missense	probably damaging	1.00
R4684:Prkca	UTSW	11	107,852,434 (GRCm39)	missense	probably damaging	0.99
R5132:Prkca	UTSW	11	108,082,943 (GRCm39)	splice site	probably benign
R5298:Prkca	UTSW	11	107,903,510 (GRCm39)	missense	probably damaging	0.98
R5546:Prkca	UTSW	11	107,944,806 (GRCm39)	missense	probably benign	0.14
R5558:Prkca	UTSW	11	107,872,473 (GRCm39)	missense	probably damaging	1.00
R5616:Prkca	UTSW	11	107,869,169 (GRCm39)	missense	possibly damaging	0.85
R5626:Prkca	UTSW	11	107,948,641 (GRCm39)	missense	possibly damaging	0.94
R5931:Prkca	UTSW	11	107,905,136 (GRCm39)	missense	probably benign	0.01
R6061:Prkca	UTSW	11	107,948,671 (GRCm39)	missense	probably benign	0.03
R7125:Prkca	UTSW	11	107,874,848 (GRCm39)	missense	probably damaging	1.00
R7283:Prkca	UTSW	11	108,231,471 (GRCm39)	critical splice donor site	probably null
R7329:Prkca	UTSW	11	107,905,103 (GRCm39)	missense	possibly damaging	0.73
R7510:Prkca	UTSW	11	107,874,820 (GRCm39)	missense	possibly damaging	0.89
R7670:Prkca	UTSW	11	107,905,170 (GRCm39)	missense	probably damaging	0.98
R7890:Prkca	UTSW	11	107,903,510 (GRCm39)	missense	probably damaging	0.98
R8769:Prkca	UTSW	11	107,842,286 (GRCm39)	splice site	probably benign
R9040:Prkca	UTSW	11	107,905,186 (GRCm39)	missense	possibly damaging	0.89
R9096:Prkca	UTSW	11	107,905,061 (GRCm39)	missense	probably benign	0.00
R9097:Prkca	UTSW	11	107,905,061 (GRCm39)	missense	probably benign	0.00
R9176:Prkca	UTSW	11	107,870,244 (GRCm39)	missense	possibly damaging	0.83
R9763:Prkca	UTSW	11	107,903,867 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TACCACATGGCTGCCTCACGAATAC -3'
(R):5'- TGTCACTGAGACAAGCTAGGCAAAC -3'

Sequencing Primer
(F):5'- TGCCTCACGAATACACGGG -3'
(R):5'- GCTAGGCAAACGTCCTGATATG -3'

Posted On

2013-05-23