Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Prkcg'

99299

Institutional Source

Beutler Lab

Gene Symbol

Prkcg

Ensembl Gene

ENSMUSG00000078816

Gene Name

protein kinase C, gamma

Synonyms

PKCgamma, Prkcc, Pkcc

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3352038-3379615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3368177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 357 (R357Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100301] [ENSMUST00000172109]

AlphaFold

P63318

Predicted Effect

probably damaging
Transcript: ENSMUST00000100301
AA Change: R408Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: R408Q

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
C1	36	85	2.89e-16	SMART
C1	101	150	2.27e-14	SMART
C2	172	275	1.35e-26	SMART
low complexity region	319	331	N/A	INTRINSIC
S_TKc	351	614	1.37e-94	SMART
S_TK_X	615	677	1.77e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172109
AA Change: R357Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: R357Q

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
C1	36	85	2.89e-16	SMART
C1	101	150	2.27e-14	SMART
C2	172	275	1.35e-26	SMART
S_TKc	309	563	2.73e-80	SMART
S_TK_X	564	626	1.77e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203081

Meta Mutation Damage Score

0.1752

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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 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 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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Depending upon genetic background, homozygous null mice show mild deficits in spatial learning and contextual conditioning. Genotype-dependent reductions in sensitivity to the effects of ethanol on righting reflex and hypothermia, in neuropathic pain after injury, and in anxiety are also evident. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,856,163 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,105,671 (GRCm39)	S2914N	probably benign	Het
Alk	T	C	17: 72,207,729 (GRCm39)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,568,674 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,562,486 (GRCm39)		probably benign	Het
Asxl3	C	A	18: 22,657,564 (GRCm39)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,098,780 (GRCm39)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,079,388 (GRCm39)		probably benign	Het
C1qtnf1	G	T	11: 118,339,095 (GRCm39)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cage1	C	T	13: 38,206,856 (GRCm39)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,902,317 (GRCm39)	N59I	probably benign	Het
Ccdc110	G	T	8: 46,394,922 (GRCm39)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,830,581 (GRCm39)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,623,119 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Cers4	T	A	8: 4,569,475 (GRCm39)	W161R	probably damaging	Het
Ces2f	T	A	8: 105,680,178 (GRCm39)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,361,669 (GRCm39)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,629,750 (GRCm39)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,366,761 (GRCm39)	R234G	unknown	Het
Col3a1	A	T	1: 45,386,884 (GRCm39)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,378,768 (GRCm39)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Dcdc2a	C	A	13: 25,240,290 (GRCm39)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,781,571 (GRCm39)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,566,175 (GRCm39)	L452*	probably null	Het
Fam193b	C	T	13: 55,689,518 (GRCm39)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,713,781 (GRCm39)		probably benign	Het
Fastkd1	A	G	2: 69,538,993 (GRCm39)		probably benign	Het
Fmnl1	G	A	11: 103,088,196 (GRCm39)	G69D	probably benign	Het
Foxn2	A	G	17: 88,781,094 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,821,844 (GRCm39)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,912,820 (GRCm39)		noncoding transcript	Het
H2-T13	T	C	17: 36,391,983 (GRCm39)	N44S	possibly damaging	Het
Helz2	T	C	2: 180,871,608 (GRCm39)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,277,952 (GRCm39)	C93*	probably null	Het
Lig1	C	T	7: 13,026,079 (GRCm39)	A278V	probably benign	Het
Lipn	T	A	19: 34,049,158 (GRCm39)	I108K	probably benign	Het
Lsamp	A	G	16: 41,971,592 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,129,743 (GRCm39)		probably benign	Het
Mdm4	A	T	1: 132,919,558 (GRCm39)	C436S	probably damaging	Het
Mdm4	A	G	1: 132,940,430 (GRCm39)	L33P	probably damaging	Het
Meiob	T	C	17: 25,055,458 (GRCm39)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,360,777 (GRCm39)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,940,964 (GRCm39)	N301K	probably benign	Het
Muc6	C	T	7: 141,230,500 (GRCm39)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,437,588 (GRCm39)	Y2091*	probably null	Het
Mylk	G	A	16: 34,694,409 (GRCm39)	R156H	probably benign	Het
Myo15a	G	T	11: 60,370,233 (GRCm39)	D998Y	probably benign	Het
Neb	A	T	2: 52,086,369 (GRCm39)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,743,370 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm39)	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324 (GRCm39)	K619R	probably benign	Het
Nrg1	T	C	8: 32,327,695 (GRCm39)		probably benign	Het
Odr4	T	A	1: 150,262,142 (GRCm39)	E99D	probably benign	Het
Or4f59	A	T	2: 111,872,560 (GRCm39)	D272E	probably benign	Het
Or5b122	T	C	19: 13,563,577 (GRCm39)	V260A	probably benign	Het
Or5m8	A	T	2: 85,823,040 (GRCm39)	N293I	probably damaging	Het
Or8g24	T	A	9: 38,989,525 (GRCm39)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,353,204 (GRCm39)		probably benign	Het
Pde2a	A	G	7: 101,133,750 (GRCm39)	E103G	probably benign	Het
Pds5a	A	T	5: 65,792,645 (GRCm39)		probably benign	Het
Pip4k2c	A	G	10: 127,047,262 (GRCm39)	V40A	unknown	Het
Pitrm1	T	C	13: 6,602,780 (GRCm39)		probably benign	Het
Plk4	A	G	3: 40,756,282 (GRCm39)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 21,171,593 (GRCm39)		probably benign	Het
Ppp4r3b	T	A	11: 29,159,426 (GRCm39)	N172K	probably damaging	Het
Prmt3	T	C	7: 49,498,295 (GRCm39)		probably null	Het
Prx	T	A	7: 27,217,432 (GRCm39)	C644*	probably null	Het
Ptpru	A	G	4: 131,535,838 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,619,696 (GRCm39)	D738E	probably damaging	Het
Recql5	A	T	11: 115,788,060 (GRCm39)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,663,088 (GRCm39)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,777,332 (GRCm39)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,441,735 (GRCm39)	Y222*	probably null	Het
Shld2	A	T	14: 33,990,448 (GRCm39)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,483,347 (GRCm39)	G584V	probably damaging	Het
Slc35b3	T	A	13: 39,121,307 (GRCm39)	Y311F	probably benign	Het
Slc44a5	A	G	3: 153,963,357 (GRCm39)		probably null	Het
Slc6a9	A	G	4: 117,722,003 (GRCm39)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,364,728 (GRCm39)		probably null	Het
Spast	A	G	17: 74,688,963 (GRCm39)		probably null	Het
Spink5	A	T	18: 44,116,630 (GRCm39)	E208V	probably benign	Het
Stag1	T	C	9: 100,770,506 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Sult3a2	A	T	10: 33,653,188 (GRCm39)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,290,636 (GRCm39)	D162G	probably damaging	Het
Themis	A	C	10: 28,544,744 (GRCm39)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem131	A	T	1: 36,873,979 (GRCm39)	Y271*	probably null	Het
Trim35	T	A	14: 66,546,248 (GRCm39)	S338R	probably benign	Het
Trim42	C	A	9: 97,245,673 (GRCm39)	V376F	probably benign	Het
Tshr	A	T	12: 91,504,871 (GRCm39)	K11M	probably damaging	Het
Vps8	A	G	16: 21,278,570 (GRCm39)		probably benign	Het
Wdr11	T	C	7: 129,208,831 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,008,859 (GRCm39)		probably benign	Het
Wdtc1	A	G	4: 133,024,857 (GRCm39)	Y447H	probably damaging	Het
Zfp687	C	T	3: 94,915,784 (GRCm39)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,840,446 (GRCm39)	V135E	probably benign	Het
Zranb2	T	C	3: 157,247,502 (GRCm39)		probably benign	Het

Other mutations in Prkcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Prkcg	APN	7	3,368,135 (GRCm39)	missense	probably benign	0.27
IGL01551:Prkcg	APN	7	3,352,342 (GRCm39)	unclassified	probably benign
IGL02167:Prkcg	APN	7	3,371,097 (GRCm39)	critical splice donor site	probably null
IGL02434:Prkcg	APN	7	3,367,406 (GRCm39)	missense	probably benign
R0044:Prkcg	UTSW	7	3,363,517 (GRCm39)	intron	probably benign
R0164:Prkcg	UTSW	7	3,377,635 (GRCm39)	missense	probably damaging	1.00
R0164:Prkcg	UTSW	7	3,377,635 (GRCm39)	missense	probably damaging	1.00
R0413:Prkcg	UTSW	7	3,368,095 (GRCm39)	missense	probably benign	0.00
R0417:Prkcg	UTSW	7	3,352,820 (GRCm39)	critical splice acceptor site	probably null
R1113:Prkcg	UTSW	7	3,377,622 (GRCm39)	missense	probably damaging	1.00
R1308:Prkcg	UTSW	7	3,377,622 (GRCm39)	missense	probably damaging	1.00
R1634:Prkcg	UTSW	7	3,371,986 (GRCm39)	missense	probably damaging	1.00
R1978:Prkcg	UTSW	7	3,353,862 (GRCm39)	missense	probably damaging	1.00
R2016:Prkcg	UTSW	7	3,372,066 (GRCm39)	missense	probably damaging	0.98
R2209:Prkcg	UTSW	7	3,352,097 (GRCm39)	unclassified	probably benign
R3788:Prkcg	UTSW	7	3,362,263 (GRCm39)	missense	probably damaging	0.99
R4006:Prkcg	UTSW	7	3,375,983 (GRCm39)	missense	probably damaging	0.96
R4853:Prkcg	UTSW	7	3,367,469 (GRCm39)	missense	probably damaging	0.99
R4915:Prkcg	UTSW	7	3,378,781 (GRCm39)	nonsense	probably null
R4916:Prkcg	UTSW	7	3,378,781 (GRCm39)	nonsense	probably null
R4997:Prkcg	UTSW	7	3,371,097 (GRCm39)	critical splice donor site	probably null
R5446:Prkcg	UTSW	7	3,378,780 (GRCm39)	missense	probably benign	0.00
R5646:Prkcg	UTSW	7	3,377,597 (GRCm39)	missense	probably damaging	0.97
R5677:Prkcg	UTSW	7	3,371,974 (GRCm39)	missense	probably damaging	1.00
R6913:Prkcg	UTSW	7	3,362,335 (GRCm39)	missense	probably benign	0.02
R7355:Prkcg	UTSW	7	3,372,025 (GRCm39)	missense	possibly damaging	0.94
R7371:Prkcg	UTSW	7	3,368,069 (GRCm39)	missense	probably benign	0.27
R7544:Prkcg	UTSW	7	3,359,081 (GRCm39)	missense	probably benign	0.00
R7649:Prkcg	UTSW	7	3,378,480 (GRCm39)	missense	probably benign	0.09
R7742:Prkcg	UTSW	7	3,378,459 (GRCm39)	missense	possibly damaging	0.84
R8009:Prkcg	UTSW	7	3,362,708 (GRCm39)	missense	probably benign
R8074:Prkcg	UTSW	7	3,372,037 (GRCm39)	missense	probably damaging	1.00
R8296:Prkcg	UTSW	7	3,377,580 (GRCm39)	missense	probably benign	0.37
R8344:Prkcg	UTSW	7	3,378,686 (GRCm39)	missense	probably damaging	1.00
R8887:Prkcg	UTSW	7	3,370,857 (GRCm39)	missense	possibly damaging	0.94
R9343:Prkcg	UTSW	7	3,359,124 (GRCm39)	missense	possibly damaging	0.55
R9426:Prkcg	UTSW	7	3,375,975 (GRCm39)	missense	probably damaging	1.00
R9530:Prkcg	UTSW	7	3,375,965 (GRCm39)	missense	possibly damaging	0.89
R9605:Prkcg	UTSW	7	3,359,360 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-15