Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Prkch'

443146

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73631570-73824959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73744724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 246 (H246Y)

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: H246Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: H246Y

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

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably damaging	Het

Other mutations in Prkch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Prkch	APN	12	73,749,363 (GRCm39)	splice site	probably benign
IGL00548:Prkch	APN	12	73,749,585 (GRCm39)	missense	probably damaging	1.00
IGL01310:Prkch	APN	12	73,805,787 (GRCm39)	missense	possibly damaging	0.78
IGL01782:Prkch	APN	12	73,806,436 (GRCm39)	missense	probably damaging	1.00
IGL02335:Prkch	APN	12	73,749,286 (GRCm39)	missense	probably benign	0.00
Nighthawk	UTSW	12	73,768,616 (GRCm39)	missense	probably damaging	1.00
Topsoil	UTSW	12	73,632,301 (GRCm39)	critical splice donor site	probably null
wolfcreek	UTSW	12	73,806,484 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Prkch	UTSW	12	73,749,538 (GRCm39)	missense	possibly damaging	0.71
R0084:Prkch	UTSW	12	73,744,761 (GRCm39)	missense	possibly damaging	0.87
R0127:Prkch	UTSW	12	73,768,561 (GRCm39)	missense	possibly damaging	0.94
R0471:Prkch	UTSW	12	73,738,426 (GRCm39)	missense	probably benign	0.03
R0490:Prkch	UTSW	12	73,806,450 (GRCm39)	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73,632,163 (GRCm39)	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73,632,163 (GRCm39)	missense	probably damaging	1.00
R1552:Prkch	UTSW	12	73,749,320 (GRCm39)	missense	probably benign	0.33
R1572:Prkch	UTSW	12	73,696,131 (GRCm39)	critical splice donor site	probably null
R1651:Prkch	UTSW	12	73,805,775 (GRCm39)	missense	possibly damaging	0.88
R2114:Prkch	UTSW	12	73,749,290 (GRCm39)	missense	probably benign
R3714:Prkch	UTSW	12	73,822,290 (GRCm39)	missense	probably damaging	1.00
R4515:Prkch	UTSW	12	73,749,612 (GRCm39)	missense	possibly damaging	0.76
R4749:Prkch	UTSW	12	73,739,734 (GRCm39)	missense	probably damaging	1.00
R4977:Prkch	UTSW	12	73,749,667 (GRCm39)	missense	possibly damaging	0.52
R5381:Prkch	UTSW	12	73,738,366 (GRCm39)	missense	probably damaging	0.99
R6526:Prkch	UTSW	12	73,749,549 (GRCm39)	missense	probably damaging	1.00
R6864:Prkch	UTSW	12	73,806,391 (GRCm39)	missense	probably damaging	1.00
R7484:Prkch	UTSW	12	73,632,301 (GRCm39)	critical splice donor site	probably null
R8074:Prkch	UTSW	12	73,747,041 (GRCm39)	missense	possibly damaging	0.49
R8294:Prkch	UTSW	12	73,806,484 (GRCm39)	missense	probably damaging	1.00
R8301:Prkch	UTSW	12	73,749,538 (GRCm39)	missense	possibly damaging	0.71
R8312:Prkch	UTSW	12	73,807,358 (GRCm39)	missense	noncoding transcript
R8734:Prkch	UTSW	12	73,632,018 (GRCm39)	missense	possibly damaging	0.62
R8766:Prkch	UTSW	12	73,749,312 (GRCm39)	missense	probably benign	0.01
R8998:Prkch	UTSW	12	73,742,973 (GRCm39)	missense	probably damaging	1.00
R8999:Prkch	UTSW	12	73,742,973 (GRCm39)	missense	probably damaging	1.00
R9058:Prkch	UTSW	12	73,822,308 (GRCm39)	critical splice donor site	probably null
R9152:Prkch	UTSW	12	73,738,418 (GRCm39)	missense	possibly damaging	0.91
R9176:Prkch	UTSW	12	73,746,968 (GRCm39)	missense	probably damaging	1.00
R9194:Prkch	UTSW	12	73,768,616 (GRCm39)	missense	probably damaging	1.00
R9691:Prkch	UTSW	12	73,805,730 (GRCm39)	missense	probably damaging	1.00
R9764:Prkch	UTSW	12	73,747,078 (GRCm39)	missense	probably benign	0.00
R9794:Prkch	UTSW	12	73,744,744 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CTCCAAATGGTGAATGGTTCATC -3'
(R):5'- CCCCAGGTCAGATTATAAGCCC -3'

Sequencing Primer
(F):5'- TCATCAACAAAGTGTGCTAAGATCC -3'
(R):5'- GTCAGATTATAAGCCCACAGAACTTC -3'

Posted On

2016-11-09