Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Prkcg'

40397

Institutional Source

Beutler Lab

Gene Symbol

Prkcg

Ensembl Gene

ENSMUSG00000078816

Gene Name

protein kinase C, gamma

Synonyms

PKCgamma, Prkcc, Pkcc

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0417 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

3352038-3379615 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 3352820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096744] [ENSMUST00000100301] [ENSMUST00000100301] [ENSMUST00000164553] [ENSMUST00000172109] [ENSMUST00000172109] [ENSMUST00000203566]

AlphaFold

P63318

Predicted Effect

probably benign
Transcript: ENSMUST00000096744

SMART Domains

Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	7.2e-16	PFAM
Pfam:MARVEL	162	311	1.6e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100301

SMART Domains

Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816

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 null
Transcript: ENSMUST00000100301

SMART Domains

Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816

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: ENSMUST00000164553

SMART Domains

Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	5.6e-16	PFAM
Pfam:MARVEL	162	311	1.3e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000172109

SMART Domains

Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816

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 null
Transcript: ENSMUST00000172109

SMART Domains

Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203566

SMART Domains

Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	5.6e-16	PFAM
Pfam:MARVEL	162	311	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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
1700030K09Rik	A	G	8: 73,199,244 (GRCm39)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,028,864 (GRCm39)	Y112H	probably damaging	Het
Acot2	T	C	12: 84,037,387 (GRCm39)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,212,691 (GRCm39)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,510,510 (GRCm39)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,479,259 (GRCm39)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,034 (GRCm39)	S82G	possibly damaging	Het
Arhgef18	T	C	8: 3,438,957 (GRCm39)		probably benign	Het
Bicra	C	A	7: 15,706,247 (GRCm39)	R1398L	probably damaging	Het
Boc	T	C	16: 44,340,597 (GRCm39)	T118A	probably benign	Het
Btnl9	A	G	11: 49,066,422 (GRCm39)	Y381H	probably damaging	Het
Cbln3	T	G	14: 56,121,586 (GRCm39)	E20A	probably benign	Het
Cdc42ep5	A	G	7: 4,154,482 (GRCm39)	L102P	probably damaging	Het
Csrnp3	A	G	2: 65,849,887 (GRCm39)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,340,152 (GRCm39)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,150,855 (GRCm39)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dok1	A	T	6: 83,008,550 (GRCm39)	D377E	probably damaging	Het
Eed	A	T	7: 89,620,760 (GRCm39)	Y87*	probably null	Het
Entpd3	T	C	9: 120,386,487 (GRCm39)	V156A	probably damaging	Het
Exo5	T	A	4: 120,779,269 (GRCm39)	T199S	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Ezh2	A	G	6: 47,528,660 (GRCm39)	C291R	probably benign	Het
Flvcr1	A	T	1: 190,743,416 (GRCm39)	M466K	probably benign	Het
Fras1	G	T	5: 96,839,231 (GRCm39)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,278,473 (GRCm39)	R471S	probably damaging	Het
Galr1	A	T	18: 82,423,665 (GRCm39)	F204Y	probably damaging	Het
Gna11	A	T	10: 81,366,738 (GRCm39)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm39)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,719,352 (GRCm39)	N353T	probably benign	Het
Il7	T	A	3: 7,641,087 (GRCm39)	T110S	probably damaging	Het
Keg1	A	G	19: 12,688,424 (GRCm39)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,099,964 (GRCm39)	I558T	probably damaging	Het
Lca5l	G	A	16: 95,963,853 (GRCm39)	T357M	probably damaging	Het
Lrba	T	C	3: 86,622,961 (GRCm39)	S2448P	probably damaging	Het
Map3k6	T	A	4: 132,975,393 (GRCm39)	Y709*	probably null	Het
Megf6	A	G	4: 154,352,424 (GRCm39)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,534,155 (GRCm39)	G473D	probably damaging	Het
Mga	A	G	2: 119,733,271 (GRCm39)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm39)	D232E	probably benign	Het
Nampt	T	C	12: 32,883,100 (GRCm39)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,286,893 (GRCm39)	V905A	probably benign	Het
Nomo1	A	T	7: 45,718,122 (GRCm39)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,420,497 (GRCm39)	I101F	probably damaging	Het
Nup160	A	T	2: 90,565,771 (GRCm39)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,048,936 (GRCm39)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,231,500 (GRCm39)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,270,519 (GRCm39)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,199,450 (GRCm39)	S158G	possibly damaging	Het
Or5be3	A	T	2: 86,863,789 (GRCm39)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,082,510 (GRCm39)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,130,751 (GRCm39)	I211V	probably benign	Het
Or8c8	T	C	9: 38,165,160 (GRCm39)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pclo	T	A	5: 14,763,036 (GRCm39)	H3836Q	unknown	Het
Ror1	A	T	4: 100,269,197 (GRCm39)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,072,370 (GRCm39)		probably null	Het
Slc40a1	G	A	1: 45,950,534 (GRCm39)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,299,264 (GRCm39)	T239K	probably benign	Het
Snapc3	A	G	4: 83,368,399 (GRCm39)	I299V	probably benign	Het
Sp3	G	A	2: 72,801,845 (GRCm39)	A56V	possibly damaging	Het
Spag17	T	A	3: 99,972,870 (GRCm39)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,787,954 (GRCm39)	T978A	probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Stpg2	A	G	3: 138,924,082 (GRCm39)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,949,740 (GRCm39)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,793,199 (GRCm39)	I69S	probably benign	Het
Tbata	A	T	10: 61,016,118 (GRCm39)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 51,063,733 (GRCm39)	I638V	probably benign	Het
Tomm70a	A	G	16: 56,970,266 (GRCm39)	D548G	probably benign	Het
Ust	A	G	10: 8,121,700 (GRCm39)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,703,130 (GRCm39)	S4306P	probably benign	Het
Zbed6	A	T	1: 133,586,276 (GRCm39)	S354T	probably benign	Het
Zfp691	A	G	4: 119,027,693 (GRCm39)	S180P	possibly damaging	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
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
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'- GGACTTGGGAACAGTCATGTCACAC -3'
(R):5'- GGGCTCTGACTTTGCATCTCTGAAC -3'

Sequencing Primer
(F):5'- GAACAGTCATGTCACACTGGTC -3'
(R):5'- ACCACAGGCTGTGTGTCTC -3'

Posted On

2013-05-23