Mutagenetix > Incidental Mutations

Incidental Mutation 'R1170:Prkcg'

99299

Institutional Source

Beutler Lab

Gene Symbol

Prkcg

Ensembl Gene

ENSMUSG00000078816

Gene Name

protein kinase C, gamma

Synonyms

Prkcc, PKCgamma, Pkcc

MMRRC Submission

039243-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3289179-3331099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3319661 bp

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]

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: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	Het

Other mutations in Prkcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Prkcg	APN	7	3319619	missense	probably benign	0.27
IGL01551:Prkcg	APN	7	3303826	unclassified	probably benign
IGL02167:Prkcg	APN	7	3322581	critical splice donor site	probably null
IGL02434:Prkcg	APN	7	3318890	missense	probably benign
R0044:Prkcg	UTSW	7	3315001	intron	probably benign
R0164:Prkcg	UTSW	7	3329119	missense	probably damaging	1.00
R0164:Prkcg	UTSW	7	3329119	missense	probably damaging	1.00
R0413:Prkcg	UTSW	7	3319579	missense	probably benign	0.00
R0417:Prkcg	UTSW	7	3304304	critical splice acceptor site	probably null
R1113:Prkcg	UTSW	7	3329106	missense	probably damaging	1.00
R1308:Prkcg	UTSW	7	3329106	missense	probably damaging	1.00
R1634:Prkcg	UTSW	7	3323470	missense	probably damaging	1.00
R1978:Prkcg	UTSW	7	3305346	missense	probably damaging	1.00
R2016:Prkcg	UTSW	7	3323550	missense	probably damaging	0.98
R2209:Prkcg	UTSW	7	3303581	unclassified	probably benign
R3788:Prkcg	UTSW	7	3313747	missense	probably damaging	0.99
R4006:Prkcg	UTSW	7	3327467	missense	probably damaging	0.96
R4853:Prkcg	UTSW	7	3318953	missense	probably damaging	0.99
R4915:Prkcg	UTSW	7	3330265	nonsense	probably null
R4916:Prkcg	UTSW	7	3330265	nonsense	probably null
R4997:Prkcg	UTSW	7	3322581	critical splice donor site	probably null
R5446:Prkcg	UTSW	7	3330264	missense	probably benign	0.00
R5646:Prkcg	UTSW	7	3329081	missense	probably damaging	0.97
R5677:Prkcg	UTSW	7	3323458	missense	probably damaging	1.00
R6913:Prkcg	UTSW	7	3313819	missense	probably benign	0.02
R7355:Prkcg	UTSW	7	3323509	missense	possibly damaging	0.94
R7371:Prkcg	UTSW	7	3319553	missense	probably benign	0.27
R7544:Prkcg	UTSW	7	3310565	missense	probably benign	0.00
R7649:Prkcg	UTSW	7	3329964	missense	probably benign	0.09
R7742:Prkcg	UTSW	7	3329943	missense	possibly damaging	0.84
R8009:Prkcg	UTSW	7	3314192	missense	probably benign
R8074:Prkcg	UTSW	7	3323521	missense	probably damaging	1.00
R8296:Prkcg	UTSW	7	3329064	missense	probably benign	0.37
R8344:Prkcg	UTSW	7	3330170	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15