Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Prkch'

424741

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

042956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73584796-73778185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73691592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 158 (R158S)

Ref Sequence

ENSEMBL: ENSMUSP00000021527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]

AlphaFold

P23298

Predicted Effect

probably damaging
Transcript: ENSMUST00000021527
AA Change: R158S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: R158S

Domain	Start	End	E-Value	Type
C2	11	117	1.28e-13	SMART
C1	172	222	7.92e-14	SMART
C1	246	295	2.48e-15	SMART
S_TKc	355	614	5.62e-100	SMART
S_TK_X	615	678	8.32e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119092

SMART Domains

Protein: ENSMUSP00000112499
Gene: ENSMUSG00000021108

Domain	Start	End	E-Value	Type
C2	11	117	1.28e-13	SMART
C1	172	222	7.92e-14	SMART
C1	246	295	2.48e-15	SMART
S_TKc	355	597	6.67e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221153

Meta Mutation Damage Score

0.1536

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the 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 family members 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 a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in the human gene are associated with susceptibility to cerebral infarction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit thymus hypoplasia, enlarged lymph nodes and alterations in T cell homeostasis and activation. Mice homozygous for a different knock-out allele show impaired wound healing and increased incidence of tumors by chemical induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	C	14: 49,232,907	D185G	probably damaging	Het
1700086D15Rik	G	T	11: 65,153,311	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,562,968		noncoding transcript	Het
Acvr1c	T	C	2: 58,287,735	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,876,562	T900A	probably benign	Het
Anp32a	A	C	9: 62,372,177	E107A	probably damaging	Het
Arhgef40	T	C	14: 51,991,849	I623T	probably damaging	Het
Camsap3	T	A	8: 3,603,812	I483N	probably damaging	Het
Card9	G	A	2: 26,358,883	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,523,929	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,980,852	L422*	probably null	Het
Ccdc73	A	T	2: 104,989,925	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,402,757	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,065,019	N317K	probably benign	Het
Col6a3	T	C	1: 90,775,612	R2471G	unknown	Het
Crocc	C	T	4: 141,029,311	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,741,215	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,249,690	D232E	probably benign	Het
Cuedc1	T	A	11: 88,187,986		probably null	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dusp6	G	A	10: 99,266,267	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,142,517	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,068,973	T70A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Il12b	C	A	11: 44,407,872	D51E	possibly damaging	Het
Il9r	T	G	11: 32,190,715	D435A	probably benign	Het
Jakmip2	T	C	18: 43,581,960	D167G	probably damaging	Het
Klrd1	A	G	6: 129,595,434	D63G	possibly damaging	Het
Lactb	A	G	9: 66,956,015	L439P	probably damaging	Het
Laptm5	T	C	4: 130,933,658		probably benign	Het
Lgals1	A	G	15: 78,930,023	D96G	probably benign	Het
Lrp8	A	T	4: 107,869,110	H871L	probably damaging	Het
Mfap4	A	T	11: 61,487,930	I235F	probably benign	Het
Muc6	G	A	7: 141,637,923	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,715,245	Y91*	probably null	Het
Osbp2	A	G	11: 3,705,593	Y383H	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Palb2	G	T	7: 122,128,413	T78K	probably benign	Het
Panx2	G	T	15: 89,060,230	V53L	probably damaging	Het
Pitx1	T	C	13: 55,826,079	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,651,560		probably null	Het
Pnldc1	T	G	17: 12,890,396	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,593,098	T513P	probably benign	Het
Pram1	A	T	17: 33,641,626	Q389L	probably damaging	Het
Prg4	T	C	1: 150,454,453		probably benign	Het
Ptpn7	A	T	1: 135,143,168	M332L	probably damaging	Het
Rad51c	A	T	11: 87,397,633	D241E	probably benign	Het
Rara	T	G	11: 98,971,584	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,556,658	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,534,371	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,422,071	L736Q	probably damaging	Het
Slco2a1	A	T	9: 103,068,014	D196V	probably damaging	Het
Sp3	C	A	2: 72,970,566	A368S	probably benign	Het
Stk24	A	T	14: 121,294,233	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,137,367	T96A	probably benign	Het
Tm2d3	G	A	7: 65,701,672	G225S	probably damaging	Het
Tmem55b	T	C	14: 50,929,038	E161G	probably benign	Het
Urb2	T	C	8: 124,029,912	V786A	probably benign	Het
Usp32	C	T	11: 85,059,127		probably benign	Het
Usp54	C	T	14: 20,586,076	G300D	probably damaging	Het
Vmn1r124	T	A	7: 21,260,398	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 12,042,025	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,787,795	Q422K	probably benign	Het
Vmn2r76	A	G	7: 86,225,288	F827S	probably damaging	Het
Vps52	A	G	17: 33,958,301	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zic2	A	G	14: 122,475,815	N47S	probably damaging	Het

Other mutations in Prkch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Prkch	APN	12	73702589	splice site	probably benign
IGL00548:Prkch	APN	12	73702811	missense	probably damaging	1.00
IGL01310:Prkch	APN	12	73759013	missense	possibly damaging	0.78
IGL01782:Prkch	APN	12	73759662	missense	probably damaging	1.00
IGL02335:Prkch	APN	12	73702512	missense	probably benign	0.00
Nighthawk	UTSW	12	73721842	missense	probably damaging	1.00
Topsoil	UTSW	12	73585527	critical splice donor site	probably null
wolfcreek	UTSW	12	73759710	missense	probably damaging	1.00
G1Funyon:Prkch	UTSW	12	73702764	missense	possibly damaging	0.71
R0084:Prkch	UTSW	12	73697987	missense	possibly damaging	0.87
R0127:Prkch	UTSW	12	73721787	missense	possibly damaging	0.94
R0471:Prkch	UTSW	12	73691652	missense	probably benign	0.03
R0490:Prkch	UTSW	12	73759676	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73585389	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73585389	missense	probably damaging	1.00
R1552:Prkch	UTSW	12	73702546	missense	probably benign	0.33
R1572:Prkch	UTSW	12	73649357	critical splice donor site	probably null
R1651:Prkch	UTSW	12	73759001	missense	possibly damaging	0.88
R2114:Prkch	UTSW	12	73702516	missense	probably benign
R3714:Prkch	UTSW	12	73775516	missense	probably damaging	1.00
R4515:Prkch	UTSW	12	73702838	missense	possibly damaging	0.76
R4749:Prkch	UTSW	12	73692960	missense	probably damaging	1.00
R4977:Prkch	UTSW	12	73702893	missense	possibly damaging	0.52
R5682:Prkch	UTSW	12	73697950	missense	probably damaging	1.00
R6526:Prkch	UTSW	12	73702775	missense	probably damaging	1.00
R6864:Prkch	UTSW	12	73759617	missense	probably damaging	1.00
R7484:Prkch	UTSW	12	73585527	critical splice donor site	probably null
R8074:Prkch	UTSW	12	73700267	missense	possibly damaging	0.49
R8294:Prkch	UTSW	12	73759710	missense	probably damaging	1.00
R8301:Prkch	UTSW	12	73702764	missense	possibly damaging	0.71
R8312:Prkch	UTSW	12	73760584	missense	noncoding transcript
R8734:Prkch	UTSW	12	73585244	missense	possibly damaging	0.62
R8766:Prkch	UTSW	12	73702538	missense	probably benign	0.01
R8998:Prkch	UTSW	12	73696199	missense	probably damaging	1.00
R8999:Prkch	UTSW	12	73696199	missense	probably damaging	1.00
R9058:Prkch	UTSW	12	73775534	critical splice donor site	probably null
R9152:Prkch	UTSW	12	73691644	missense	possibly damaging	0.91
R9176:Prkch	UTSW	12	73700194	missense	probably damaging	1.00
R9194:Prkch	UTSW	12	73721842	missense	probably damaging	1.00
R9691:Prkch	UTSW	12	73758956	missense	probably damaging	1.00
R9764:Prkch	UTSW	12	73700304	missense	probably benign	0.00
R9794:Prkch	UTSW	12	73697970	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CCGACTGTGTTTGGACAACC -3'
(R):5'- TTTTCTCCTGAAACCACACATAAGC -3'

Sequencing Primer
(F):5'- GGTTTGCCAAGGAACCCTAAAGTTC -3'
(R):5'- TAAGCCAAAGAAGCCTCCAG -3'

Posted On

2016-08-04