Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Prkca'

48037

Institutional Source

Beutler Lab

Gene Symbol

Prkca

Ensembl Gene

ENSMUSG00000050965

Gene Name

protein kinase C, alpha

Synonyms

Pkca

MMRRC Submission

038707-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R0513 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

107824213-108234754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 107905202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 179 (D179H)

Ref Sequence

ENSEMBL: ENSMUSP00000062392 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059595
AA Change: D179H

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: D179H

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

noncoding transcript
Transcript: ENSMUST00000134910

Meta Mutation Damage Score

0.2762

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dag1	G	A	9: 108,085,684 (GRCm39)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,166,117 (GRCm39)	Q833L	probably benign	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Myo1g	T	C	11: 6,460,203 (GRCm39)	T782A	probably benign	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,328,256 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Trim33	A	G	3: 103,217,700 (GRCm39)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,962,478 (GRCm39)	L60Q	unknown	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	probably 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
R0454:Prkca	UTSW	11	107,869,106 (GRCm39)	missense	probably benign
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'- ACAACGTGAAGGACTCATTCCACTG -3'
(R):5'- GTGTTCTGCTGCCATAGGTCTGAAG -3'

Sequencing Primer
(F):5'- ACTGAGGATTCAGTGTGGAGC -3'
(R):5'- CACTCCATTGGGCTATAATCACC -3'

Posted On

2013-06-12