Mutagenetix > Incidental Mutation

Incidental Mutation 'R1552:Prkch'

170031

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

039591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73631570-73824959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73749320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 357 (F357L)

Ref Sequence

ENSEMBL: ENSMUSP00000021527 (fasta)

Gene Model

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

AlphaFold

P23298

Predicted Effect

probably benign
Transcript: ENSMUST00000021527
AA Change: F357L

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: F357L

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

0.1600

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (71/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,217,617 (GRCm39)	I365F	probably damaging	Het
Abhd15	T	C	11: 77,406,233 (GRCm39)	L70P	probably damaging	Het
Adam18	A	C	8: 25,136,377 (GRCm39)	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,645,321 (GRCm39)		probably null	Het
Arcn1	C	T	9: 44,670,291 (GRCm39)	A112T	probably damaging	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Calhm1	C	T	19: 47,129,640 (GRCm39)	R294H	probably benign	Het
Ccdc121rt1	A	G	1: 181,338,556 (GRCm39)	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,615 (GRCm39)	E81G	probably benign	Het
Cep170	T	C	1: 176,610,060 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,786,484 (GRCm39)	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 54,923,192 (GRCm39)	E205D	probably benign	Het
Chst5	T	C	8: 112,616,912 (GRCm39)	D236G	probably damaging	Het
Coro1a	T	C	7: 126,299,124 (GRCm39)	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,373,346 (GRCm39)	I474V	probably benign	Het
Cyth3	G	A	5: 143,683,505 (GRCm39)	V87I	probably benign	Het
Dclk3	C	A	9: 111,317,647 (GRCm39)	T761K	probably damaging	Het
Dvl2	T	A	11: 69,897,198 (GRCm39)	M300K	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Exog	T	C	9: 119,274,176 (GRCm39)	S54P	unknown	Het
Fasn	A	G	11: 120,709,384 (GRCm39)	S519P	probably damaging	Het
Gas8	G	A	8: 124,247,385 (GRCm39)	A16T	probably benign	Het
Got2	A	G	8: 96,596,122 (GRCm39)	S333P	probably benign	Het
Hadhb	T	A	5: 30,381,931 (GRCm39)	L287Q	probably null	Het
Ift57	A	G	16: 49,579,716 (GRCm39)	T211A	probably benign	Het
Il1rap	A	G	16: 26,541,184 (GRCm39)	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,312,316 (GRCm39)	D11E	probably damaging	Het
Impact	T	C	18: 13,117,337 (GRCm39)	S137P	probably benign	Het
Jarid2	T	C	13: 45,064,675 (GRCm39)	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,223,890 (GRCm39)	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,375,325 (GRCm39)	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,618,767 (GRCm39)	Y48C	probably damaging	Het
Klra5	G	T	6: 129,886,848 (GRCm39)	T60K	probably damaging	Het
Kng2	A	T	16: 22,806,270 (GRCm39)	L643H	probably damaging	Het
Lamb3	A	G	1: 193,013,067 (GRCm39)		probably null	Het
Lingo2	A	G	4: 35,708,315 (GRCm39)	V555A	probably damaging	Het
Mbd5	T	C	2: 49,162,946 (GRCm39)	S251P	probably damaging	Het
Mc4r	T	C	18: 66,992,766 (GRCm39)	S116G	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Myo15b	A	C	11: 115,757,461 (GRCm39)	S1104R	probably benign	Het
Nek1	T	A	8: 61,459,771 (GRCm39)	D26E	probably damaging	Het
Neu1	C	T	17: 35,151,089 (GRCm39)		probably benign	Het
Npffr2	T	C	5: 89,730,975 (GRCm39)	S302P	possibly damaging	Het
Or8b48	T	C	9: 38,492,675 (GRCm39)	M34T	probably benign	Het
Palmd	T	A	3: 116,741,689 (GRCm39)		probably benign	Het
Pcdh8	A	T	14: 80,008,047 (GRCm39)	V172E	probably benign	Het
Pnpla6	C	A	8: 3,572,403 (GRCm39)	Q291K	probably damaging	Het
Pou2af2	T	A	9: 51,202,870 (GRCm39)	S95C	probably damaging	Het
Ptprj	A	T	2: 90,301,497 (GRCm39)	Y212N	probably damaging	Het
Reln	G	T	5: 22,165,376 (GRCm39)	H2061N	probably benign	Het
Rint1	T	A	5: 24,005,656 (GRCm39)	S113T	probably benign	Het
Rnf38	G	C	4: 44,142,468 (GRCm39)		probably null	Het
Slc30a4	T	A	2: 122,527,936 (GRCm39)	I374L	probably benign	Het
Slfn10-ps	T	C	11: 82,920,676 (GRCm39)		noncoding transcript	Het
Smcp	A	T	3: 92,491,710 (GRCm39)	C46S	unknown	Het
Smu1	A	C	4: 40,748,570 (GRCm39)	V240G	probably damaging	Het
Srsf5	A	G	12: 80,996,519 (GRCm39)		probably benign	Het
Stn1	T	C	19: 47,524,812 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,262,335 (GRCm39)	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,607,130 (GRCm39)	Y222H	probably benign	Het
Tescl	G	T	7: 24,032,758 (GRCm39)	P189Q	probably benign	Het
Tlr1	A	G	5: 65,084,203 (GRCm39)	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,609,880 (GRCm39)	D566E	possibly damaging	Het
Unc13b	A	T	4: 43,237,144 (GRCm39)	T3405S	probably damaging	Het
Upf1	G	A	8: 70,785,709 (GRCm39)	Q1046*	probably null	Het
Wwox	T	A	8: 115,172,090 (GRCm39)	Y61*	probably null	Het
Zfhx4	C	T	3: 5,468,170 (GRCm39)	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,888,488 (GRCm39)		probably benign	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
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
R5682:Prkch	UTSW	12	73,744,724 (GRCm39)	missense	probably damaging	1.00
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'- TTCTCCACACGGCAGTGCATACAG -3'
(R):5'- TGGCAAGCATCACCTAGAGCAAAG -3'

Sequencing Primer
(F):5'- TTAAAGAAGCTGGACATCTGCC -3'
(R):5'- TCACCTAGAGCAAAGCAGGAG -3'

Posted On

2014-04-13