Mutagenetix > Incidental Mutation

Incidental Mutation 'R2016:Prkcg'

223006

Institutional Source

Beutler Lab

Gene Symbol

Prkcg

Ensembl Gene

ENSMUSG00000078816

Gene Name

protein kinase C, gamma

Synonyms

PKCgamma, Prkcc, Pkcc

MMRRC Submission

040025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3352038-3379615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3372066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 460 (T460S)

Ref Sequence

ENSEMBL: ENSMUSP00000131351 (fasta)

Gene Model

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

AlphaFold

P63318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100301
AA Change: T511S

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: T511S

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: T460S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: T460S

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abca8a	A	G	11: 109,961,213 (GRCm39)	F570L	probably damaging	Het
Adck1	T	A	12: 88,427,862 (GRCm39)	I493N	probably damaging	Het
Adra2c	T	C	5: 35,437,656 (GRCm39)	C143R	probably damaging	Het
Afg2a	T	C	3: 37,632,911 (GRCm39)	V839A	possibly damaging	Het
Akap13	C	T	7: 75,354,279 (GRCm39)	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcam	G	A	7: 19,494,274 (GRCm39)	T374M	probably benign	Het
Blm	T	C	7: 80,155,674 (GRCm39)	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,215,331 (GRCm39)	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,152,856 (GRCm39)	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,921,133 (GRCm39)	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Ddr2	T	C	1: 169,812,537 (GRCm39)	M652V	probably damaging	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Efl1	A	C	7: 82,402,917 (GRCm39)	D673A	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Erap1	T	C	13: 74,812,270 (GRCm39)	W362R	probably damaging	Het
Fam234a	A	G	17: 26,437,290 (GRCm39)	F91L	probably benign	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Garin5b	A	T	7: 4,762,397 (GRCm39)	I244N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gnl3	A	G	14: 30,738,326 (GRCm39)		probably null	Het
Has1	A	T	17: 18,068,532 (GRCm39)	I274N	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Itsn1	T	C	16: 91,702,389 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kif13a	T	C	13: 46,964,275 (GRCm39)	D475G	probably benign	Het
Klhl20	A	T	1: 160,930,608 (GRCm39)	M298K	probably damaging	Het
Kynu	G	T	2: 43,494,289 (GRCm39)	G241*	probably null	Het
Lrif1	G	T	3: 106,639,522 (GRCm39)	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,660,056 (GRCm39)	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,311,393 (GRCm39)	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Mettl25	T	A	10: 105,633,167 (GRCm39)	E425D	probably benign	Het
Midn	G	T	10: 79,985,949 (GRCm39)	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,777,713 (GRCm39)	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,817,187 (GRCm39)	V61M	probably damaging	Het
Nalcn	T	C	14: 123,831,993 (GRCm39)		probably null	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252 (GRCm39)	C595Y	probably damaging	Het
Or10d4	A	G	9: 39,580,851 (GRCm39)	Y166C	probably damaging	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or4l15	A	G	14: 50,197,959 (GRCm39)	I190T	probably benign	Het
Or5w1b	C	T	2: 87,476,396 (GRCm39)	V24M	probably benign	Het
Or8b1	A	T	9: 38,399,309 (GRCm39)		probably null	Het
Pds5a	T	A	5: 65,805,350 (GRCm39)		probably null	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,913,722 (GRCm39)	V244M	probably damaging	Het
Plk1	A	G	7: 121,761,663 (GRCm39)	K257R	probably damaging	Het
Prl7d1	G	A	13: 27,894,156 (GRCm39)	H138Y	probably damaging	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Pwwp2b	A	T	7: 138,836,067 (GRCm39)	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Sall1	A	G	8: 89,755,037 (GRCm39)	V1314A	probably benign	Het
Sema6c	A	G	3: 95,078,545 (GRCm39)	I549V	probably benign	Het
Slc17a1	A	G	13: 24,062,522 (GRCm39)	S230G	probably benign	Het
Slc5a4a	T	G	10: 75,989,414 (GRCm39)	F106V	probably benign	Het
Stat6	T	C	10: 127,486,665 (GRCm39)	L147P	probably damaging	Het
Taar7d	T	A	10: 23,903,642 (GRCm39)	S175T	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tmem132b	A	G	5: 125,700,080 (GRCm39)	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,061 (GRCm39)	D231G	probably benign	Het
Trim66	A	G	7: 109,071,439 (GRCm39)		probably null	Het
Ttll9	A	T	2: 152,844,214 (GRCm39)	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,056,493 (GRCm39)	D548E	probably damaging	Het
Zcchc2	T	A	1: 105,931,851 (GRCm39)		probably null	Het
Zfp282	T	A	6: 47,874,721 (GRCm39)		probably null	Het
Zfp352	A	G	4: 90,113,408 (GRCm39)	E516G	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
R1170:Prkcg	UTSW	7	3,368,177 (GRCm39)	missense	probably damaging	0.97
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
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

PCR Primer
(F):5'- GCTAGTGCTCAGATTACAAAATCC -3'
(R):5'- TCAGCATATCAGCCTCCCTG -3'

Sequencing Primer
(F):5'- AGTAGACTAGGTCTGCCTACC -3'
(R):5'- GCATATCAGCCTCCCTGGTCAG -3'

Posted On

2014-08-25