Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Prkcg'

539164

Institutional Source

Beutler Lab

Gene Symbol

Prkcg

Ensembl Gene

ENSMUSG00000078816

Gene Name

protein kinase C, gamma

Synonyms

PKCgamma, Prkcc, Pkcc

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3352038-3379615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3362335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 270 (P270S)

Ref Sequence

ENSEMBL: ENSMUSP00000131351 (fasta)

Gene Model

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

AlphaFold

P63318

Predicted Effect

probably benign
Transcript: ENSMUST00000100301
AA Change: P270S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: P270S

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 benign
Transcript: ENSMUST00000172109
AA Change: P270S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: P270S

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	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
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
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'- GACTTTGTGACGTTGGCTCC -3'
(R):5'- AAACTTCTGGAGGAGGCTGC -3'

Sequencing Primer
(F):5'- GACGTTGGCTCCTCACTCTG -3'
(R):5'- GGCCACCGGTACATTGTAATATTCG -3'

Posted On

2018-11-06