Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:Prkcg'

441149

Institutional Source

Beutler Lab

Gene Symbol

Prkcg

Ensembl Gene

ENSMUSG00000078816

Gene Name

protein kinase C, gamma

Synonyms

PKCgamma, Prkcc, Pkcc

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3352038-3379615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3377597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 517 (M517K)

Ref Sequence

ENSEMBL: ENSMUSP00000131351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092891] [ENSMUST00000100301] [ENSMUST00000172109]

AlphaFold

P63318

Predicted Effect

probably benign
Transcript: ENSMUST00000092891

SMART Domains

Protein: ENSMUSP00000090567
Gene: ENSMUSG00000069806

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	7	196	4.4e-22	PFAM
Pfam:Claudin_2	18	197	2.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100301
AA Change: M568K

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: M568K

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: M517K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: M517K

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

noncoding transcript
Transcript: ENSMUST00000203454

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	C	A	5: 34,788,024 (GRCm39)	A691D	probably benign	Het
Agap3	C	A	5: 24,688,395 (GRCm39)	D394E	probably benign	Het
Arhgef11	T	C	3: 87,591,793 (GRCm39)	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,052,277 (GRCm39)	V402A	probably benign	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Bsn	A	T	9: 107,987,631 (GRCm39)		probably benign	Het
Camk1	A	G	6: 113,316,301 (GRCm39)	V81A	probably damaging	Het
Cass4	T	G	2: 172,258,165 (GRCm39)	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,879,699 (GRCm39)	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 179,933,659 (GRCm39)	E766G	probably damaging	Het
Cdcp2	T	C	4: 106,962,339 (GRCm39)	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,371 (GRCm39)	E118K	probably damaging	Het
Col4a2	G	A	8: 11,491,281 (GRCm39)	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,336,665 (GRCm39)	T5A	probably benign	Het
Dlg5	T	A	14: 24,208,767 (GRCm39)	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,174,515 (GRCm39)	S405F	possibly damaging	Het
Drd2	A	G	9: 49,316,212 (GRCm39)	K324R	probably benign	Het
Ergic1	T	C	17: 26,833,332 (GRCm39)	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,087,338 (GRCm39)		probably benign	Het
Foxd2	C	T	4: 114,765,832 (GRCm39)	A63T	unknown	Het
Gfap	T	C	11: 102,782,282 (GRCm39)	I409M	probably benign	Het
Gfpt1	A	G	6: 87,019,981 (GRCm39)	M1V	probably null	Het
H2-T23	C	G	17: 36,342,695 (GRCm39)	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,457,595 (GRCm39)	R704W	probably damaging	Het
Kif19a	A	C	11: 114,670,480 (GRCm39)	D130A	probably damaging	Het
Lin7b	T	C	7: 45,018,617 (GRCm39)	D14G	probably damaging	Het
Meioc	T	A	11: 102,566,083 (GRCm39)	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,711,663 (GRCm39)	G68*	probably null	Het
Mitf	A	T	6: 97,990,655 (GRCm39)	I184F	probably damaging	Het
Mmp9	T	A	2: 164,790,970 (GRCm39)	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,407,346 (GRCm39)	H2768L	probably benign	Het
Myh2	A	T	11: 67,079,638 (GRCm39)	I1032F	probably benign	Het
Myo3b	T	C	2: 70,144,774 (GRCm39)	I1110T	probably damaging	Het
Nde1	T	C	16: 13,987,378 (GRCm39)	F8L	probably damaging	Het
Or10aa3	C	T	1: 173,878,853 (GRCm39)	Q305*	probably null	Het
Or2a25	A	G	6: 42,888,457 (GRCm39)		probably null	Het
Or2h2b-ps1	T	C	17: 37,480,808 (GRCm39)	I244V	probably benign	Het
Or4f47	T	C	2: 111,973,028 (GRCm39)	V246A	possibly damaging	Het
Or51r1	A	C	7: 102,228,512 (GRCm39)	Y270S	possibly damaging	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c202	T	C	10: 128,996,706 (GRCm39)	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,859,823 (GRCm39)	H293R	probably benign	Het
Pde7a	A	T	3: 19,287,937 (GRCm39)	L244Q	probably damaging	Het
Pex14	T	C	4: 149,045,910 (GRCm39)	D340G	probably benign	Het
Pfkfb4	A	T	9: 108,837,489 (GRCm39)	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,005,186 (GRCm39)	G361W	probably damaging	Het
Prob1	A	T	18: 35,787,167 (GRCm39)	F362L	probably benign	Het
Rims4	C	T	2: 163,705,937 (GRCm39)	W232*	probably null	Het
Robo2	T	C	16: 73,758,707 (GRCm39)	D688G	probably damaging	Het
Sec24c	C	A	14: 20,729,641 (GRCm39)	A73E	probably benign	Het
Slc15a3	A	G	19: 10,820,574 (GRCm39)	N64D	probably benign	Het
Smg1	A	T	7: 117,811,782 (GRCm39)	N65K	probably benign	Het
Spata31h1	A	G	10: 82,119,610 (GRCm39)	S4467P	probably damaging	Het
Sptb	G	T	12: 76,634,215 (GRCm39)	D2165E	probably benign	Het
Sptbn5	A	T	2: 119,879,292 (GRCm39)		noncoding transcript	Het
Syt12	A	T	19: 4,506,569 (GRCm39)	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,636,671 (GRCm39)	V126A	probably benign	Het
Thbs3	T	C	3: 89,126,405 (GRCm39)	L242P	probably damaging	Het
Timp2	A	T	11: 118,208,358 (GRCm39)		probably null	Het
Tmtc1	G	A	6: 148,148,329 (GRCm39)	A751V	probably damaging	Het
Tnni2	A	T	7: 141,997,650 (GRCm39)	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,162,307 (GRCm39)	P319L	probably damaging	Het
Ttc6	A	T	12: 57,622,805 (GRCm39)	K68M	probably damaging	Het
Usp25	G	A	16: 76,847,360 (GRCm39)	R156Q	probably benign	Het
Vill	A	T	9: 118,900,230 (GRCm39)	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,012,223 (GRCm39)	T4S	probably benign	Het
Vmn2r76	C	A	7: 85,875,261 (GRCm39)	C572F	probably damaging	Het
Vps26a	A	C	10: 62,304,077 (GRCm39)	N181K	probably damaging	Het
Xirp2	T	C	2: 67,341,134 (GRCm39)	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,351,501 (GRCm39)	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526 (GRCm39)	D144G	probably benign	Het
Zfp600	T	C	4: 146,131,670 (GRCm39)	S113P	probably damaging	Het
Zfp84	C	T	7: 29,475,818 (GRCm39)	T170M	probably benign	Het
Zmiz2	T	A	11: 6,352,837 (GRCm39)	D654E	probably damaging	Het
Zswim4	A	T	8: 84,957,739 (GRCm39)		probably null	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
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'- TCTTGCTTTTATCCAAGGCGG -3'
(R):5'- GACAGCGAGGTAGCAAAATATTGTTC -3'

Sequencing Primer
(F):5'- CGGTTGGCCATAGGGGAG -3'
(R):5'- ACGACTTTTACAGAAGATGGCTG -3'

Posted On

2016-11-08