Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Prkca'

162330

Institutional Source

Beutler Lab

Gene Symbol

Prkca

Ensembl Gene

ENSMUSG00000050965

Gene Name

protein kinase C, alpha

Synonyms

Pkca

MMRRC Submission

039487-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107824213-108234754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107830346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 248 (V248E)

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: V672E

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: V672E

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: V248E

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097875
Gene: ENSMUSG00000050965
AA Change: V248E

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

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,217,361 (GRCm39)		probably null	Het
9130401M01Rik	A	T	15: 57,892,256 (GRCm39)	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,887,771 (GRCm39)	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,920,198 (GRCm39)	I9F	probably damaging	Het
Acap2	A	T	16: 30,929,901 (GRCm39)	S386T	probably damaging	Het
Acsm2	A	T	7: 119,172,798 (GRCm39)	I138F	possibly damaging	Het
Agl	T	C	3: 116,540,342 (GRCm39)	Y1424C	probably damaging	Het
Aoc1l1	T	A	6: 48,952,588 (GRCm39)	F171Y	probably damaging	Het
Apc2	T	C	10: 80,148,183 (GRCm39)	V1079A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Armc8	C	T	9: 99,405,185 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,588,476 (GRCm39)	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,893,001 (GRCm39)	A720V	probably damaging	Het
Chka	T	C	19: 3,924,809 (GRCm39)		probably benign	Het
Clcc1	T	C	3: 108,575,418 (GRCm39)	I165T	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dip2c	C	A	13: 9,603,340 (GRCm39)	P297Q	probably damaging	Het
Dnah17	A	T	11: 117,914,153 (GRCm39)	W4429R	probably damaging	Het
Dram2	T	C	3: 106,478,082 (GRCm39)	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,698,770 (GRCm39)	N78S	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ebf1	T	C	11: 44,895,533 (GRCm39)		probably benign	Het
Epm2a	T	A	10: 11,266,587 (GRCm39)	Y111N	probably damaging	Het
Gm773	T	C	X: 55,247,377 (GRCm39)	T52A	probably benign	Het
Gpam	C	A	19: 55,067,693 (GRCm39)	M483I	probably damaging	Het
Gpr12	T	C	5: 146,520,235 (GRCm39)	H229R	probably damaging	Het
Gpr149	T	C	3: 62,438,439 (GRCm39)	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hells	T	A	19: 38,945,628 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,372,751 (GRCm39)	N3102K	probably benign	Het
Herc3	A	T	6: 58,893,827 (GRCm39)	T968S	possibly damaging	Het
Ift88	A	G	14: 57,674,736 (GRCm39)	Y69C	probably benign	Het
Incenp	G	A	19: 9,862,890 (GRCm39)	T388M	unknown	Het
Jrkl	A	G	9: 13,245,337 (GRCm39)	F108S	probably benign	Het
Khdc1a	A	G	1: 21,420,542 (GRCm39)	E54G	possibly damaging	Het
Kif6	T	A	17: 49,927,728 (GRCm39)	F58L	probably damaging	Het
Klk14	T	C	7: 43,344,342 (GRCm39)	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,655,319 (GRCm39)	M19T	probably benign	Het
Llgl1	G	T	11: 60,599,380 (GRCm39)	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,276,898 (GRCm39)	V33A	probably benign	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mgam	T	A	6: 40,733,301 (GRCm39)	M692K	probably damaging	Het
Mmp28	C	T	11: 83,333,765 (GRCm39)	R392H	probably damaging	Het
Mpdz	G	A	4: 81,210,788 (GRCm39)	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,433,310 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,866 (GRCm39)	N504S	probably benign	Het
Msmo1	A	G	8: 65,180,650 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,961,403 (GRCm39)	E571G	probably benign	Het
Myh14	T	C	7: 44,265,723 (GRCm39)	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,613,332 (GRCm39)	C824R	probably damaging	Het
Ncapd3	C	T	9: 26,981,168 (GRCm39)		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,163,622 (GRCm39)		probably null	Het
Nos1	C	T	5: 118,087,684 (GRCm39)		probably benign	Het
Notch3	T	C	17: 32,383,198 (GRCm39)	S47G	probably benign	Het
Npsr1	A	G	9: 24,221,371 (GRCm39)	Y122C	probably damaging	Het
Or10ak12	T	C	4: 118,666,435 (GRCm39)	M209V	probably benign	Het
Or1j11	C	T	2: 36,311,655 (GRCm39)	L82F	probably damaging	Het
Or5a1	G	T	19: 12,097,603 (GRCm39)	R158S	possibly damaging	Het
Or6c1b	C	T	10: 129,272,807 (GRCm39)	T42I	probably damaging	Het
Or6k2	T	A	1: 173,986,483 (GRCm39)	V48E	possibly damaging	Het
Or8b9	T	A	9: 37,766,548 (GRCm39)	L145M	possibly damaging	Het
Otog	G	T	7: 45,950,007 (GRCm39)	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,350,425 (GRCm39)	V191A	probably benign	Het
Pip	A	G	6: 41,826,852 (GRCm39)	M66V	probably benign	Het
Plxna2	C	T	1: 194,449,771 (GRCm39)	R830C	probably benign	Het
Prmt7	T	A	8: 106,963,916 (GRCm39)	L253*	probably null	Het
Prrc2a	G	T	17: 35,372,888 (GRCm39)		probably benign	Het
Rasgrf1	A	G	9: 89,894,853 (GRCm39)	D1091G	probably benign	Het
Rbm7	C	A	9: 48,401,245 (GRCm39)	G161V	probably benign	Het
Scn1a	A	T	2: 66,152,773 (GRCm39)	I736N	probably damaging	Het
Skint6	A	G	4: 112,726,721 (GRCm39)		probably benign	Het
Slc22a2	C	T	17: 12,803,195 (GRCm39)	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stam2	A	G	2: 52,604,821 (GRCm39)		probably benign	Het
Stk40	T	C	4: 126,030,626 (GRCm39)	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,845,331 (GRCm39)	N121D	probably damaging	Het
Tbc1d32	A	G	10: 55,893,758 (GRCm39)	Y1272H	probably damaging	Het
Thoc2l	T	C	5: 104,665,970 (GRCm39)	F164S	probably damaging	Het
Tmem131l	T	C	3: 83,836,021 (GRCm39)	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,524,657 (GRCm39)	Y266C	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Twf2	T	A	9: 106,092,012 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,926,635 (GRCm39)	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc5a	A	G	13: 55,152,285 (GRCm39)		probably benign	Het
Vmn2r85	T	C	10: 130,261,155 (GRCm39)	N394S	possibly damaging	Het
Wrn	A	T	8: 33,809,169 (GRCm39)		probably benign	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
R0454:Prkca	UTSW	11	107,869,106 (GRCm39)	missense	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
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'- AGTGATCAGGTTCATCCTGCCCTC -3'
(R):5'- TTTTCCCCTACAGTGTGGCAAAGG -3'

Sequencing Primer
(F):5'- TCCAAAGACATCTTGGGTGG -3'
(R):5'- GAGCAGAAAACTTTGACAAGTTCTTC -3'

Posted On

2014-03-14