Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Prkch'

382794

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73584796-73778185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73702893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 420 (F420S)

Ref Sequence

ENSEMBL: ENSMUSP00000021527 (fasta)

Gene Model

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

AlphaFold

P23298

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021527
AA Change: F420S

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: F420S

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,136,073 (GRCm38)	D910G	probably benign	Het
Amy1	C	T	3: 113,569,377 (GRCm38)		probably null	Het
C1s2	A	G	6: 124,635,639 (GRCm38)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,479 (GRCm38)	I276T	probably damaging	Het
Cdyl2	A	G	8: 116,575,269 (GRCm38)	C458R	probably damaging	Het
Cep112	T	C	11: 108,434,236 (GRCm38)	S35P	probably damaging	Het
Chd9	T	C	8: 91,033,708 (GRCm38)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,291,437 (GRCm38)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,349,426 (GRCm38)		probably null	Het
Dis3l	A	C	9: 64,307,201 (GRCm38)	S919A	probably benign	Het
Dnah8	A	G	17: 30,663,301 (GRCm38)	T616A	probably benign	Het
Emx2	A	G	19: 59,459,246 (GRCm38)	T11A	probably damaging	Het
Fam160a2	A	T	7: 105,389,335 (GRCm38)	D232E	probably damaging	Het
Fbxl18	A	G	5: 142,886,085 (GRCm38)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,772,119 (GRCm38)	T311I	probably damaging	Het
Fstl5	C	T	3: 76,410,494 (GRCm38)	Q156*	probably null	Het
Ggn	G	T	7: 29,172,196 (GRCm38)	G334C	probably damaging	Het
Grik2	T	C	10: 49,132,745 (GRCm38)	N749D	probably damaging	Het
Helb	A	G	10: 120,110,881 (GRCm38)	S176P	probably benign	Het
Hyal1	A	G	9: 107,578,954 (GRCm38)	D73G	probably benign	Het
Ifi205	C	A	1: 174,015,008 (GRCm38)	R374I	probably benign	Het
Ift172	A	T	5: 31,272,116 (GRCm38)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,946,225 (GRCm38)	S26T	possibly damaging	Het
Il21	C	A	3: 37,232,504 (GRCm38)	S21I	probably damaging	Het
Jam3	A	G	9: 27,098,373 (GRCm38)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,746,833 (GRCm38)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,440,687 (GRCm38)	V250A	probably benign	Het
Lama1	A	G	17: 67,737,682 (GRCm38)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,487,647 (GRCm38)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,914,383 (GRCm38)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,568,707 (GRCm38)	I489V	probably benign	Het
Mdh2	T	A	5: 135,783,409 (GRCm38)	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,950,509 (GRCm38)	S282P	probably benign	Het
Midn	T	A	10: 80,150,184 (GRCm38)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,796,706 (GRCm38)		probably benign	Het
Myh10	A	G	11: 68,798,371 (GRCm38)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,829,025 (GRCm38)	S155P	possibly damaging	Het
Olfr130	A	T	17: 38,067,747 (GRCm38)	H192L	possibly damaging	Het
Olfr325	A	G	11: 58,581,629 (GRCm38)	T262A	possibly damaging	Het
Olfr598	A	T	7: 103,328,833 (GRCm38)	M116L	probably benign	Het
Pex7	T	C	10: 19,869,332 (GRCm38)	T258A	probably benign	Het
Plg	A	G	17: 12,403,089 (GRCm38)	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,994,376 (GRCm38)	S144T	probably damaging	Het
Psg26	A	G	7: 18,475,310 (GRCm38)	V391A	probably benign	Het
Psg29	G	A	7: 17,208,631 (GRCm38)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,823,578 (GRCm38)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,916 (GRCm38)		probably benign	Het
Runx1	T	A	16: 92,644,347 (GRCm38)		probably null	Het
Sapcd1	A	T	17: 35,026,451 (GRCm38)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,186 (GRCm38)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,217,055 (GRCm38)	E59K	probably benign	Het
Slc8b1	A	G	5: 120,524,287 (GRCm38)	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,657,557 (GRCm38)	M221I	probably benign	Het
Smg5	C	T	3: 88,355,725 (GRCm38)	Q812*	probably null	Het
Smr3a	T	G	5: 88,008,103 (GRCm38)		probably null	Het
Syt9	G	A	7: 107,504,272 (GRCm38)	D426N	probably damaging	Het
Tcf25	T	C	8: 123,388,635 (GRCm38)	Y204H	probably benign	Het
Tmeff2	T	A	1: 50,979,556 (GRCm38)	C232*	probably null	Het
Tmem184a	C	A	5: 139,808,002 (GRCm38)	G219V	probably null	Het
Tnc	G	T	4: 64,006,248 (GRCm38)	T1071K	possibly damaging	Het
Tnn	C	A	1: 160,120,618 (GRCm38)	G842W	probably damaging	Het
Tshz3	T	A	7: 36,771,190 (GRCm38)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,447,391 (GRCm38)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,395,049 (GRCm38)		probably null	Het
Usp34	G	C	11: 23,488,982 (GRCm38)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,910,791 (GRCm38)	E10G	probably damaging	Het
Xdh	A	T	17: 73,898,970 (GRCm38)	F1016L	probably benign	Het
Zfp235	T	G	7: 24,142,184 (GRCm38)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,537,387 (GRCm38)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,353,811 (GRCm38)	S163P	probably damaging	Het
Zfp93	A	G	7: 24,275,411 (GRCm38)	I274V	probably benign	Het
Zswim4	C	T	8: 84,226,667 (GRCm38)		probably null	Het

Other mutations in Prkch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Prkch	APN	12	73,702,589 (GRCm38)	splice site	probably benign
IGL00548:Prkch	APN	12	73,702,811 (GRCm38)	missense	probably damaging	1.00
IGL01310:Prkch	APN	12	73,759,013 (GRCm38)	missense	possibly damaging	0.78
IGL01782:Prkch	APN	12	73,759,662 (GRCm38)	missense	probably damaging	1.00
IGL02335:Prkch	APN	12	73,702,512 (GRCm38)	missense	probably benign	0.00
Nighthawk	UTSW	12	73,721,842 (GRCm38)	missense	probably damaging	1.00
Topsoil	UTSW	12	73,585,527 (GRCm38)	critical splice donor site	probably null
wolfcreek	UTSW	12	73,759,710 (GRCm38)	missense	probably damaging	1.00
G1Funyon:Prkch	UTSW	12	73,702,764 (GRCm38)	missense	possibly damaging	0.71
R0084:Prkch	UTSW	12	73,697,987 (GRCm38)	missense	possibly damaging	0.87
R0127:Prkch	UTSW	12	73,721,787 (GRCm38)	missense	possibly damaging	0.94
R0471:Prkch	UTSW	12	73,691,652 (GRCm38)	missense	probably benign	0.03
R0490:Prkch	UTSW	12	73,759,676 (GRCm38)	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73,585,389 (GRCm38)	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73,585,389 (GRCm38)	missense	probably damaging	1.00
R1552:Prkch	UTSW	12	73,702,546 (GRCm38)	missense	probably benign	0.33
R1572:Prkch	UTSW	12	73,649,357 (GRCm38)	critical splice donor site	probably null
R1651:Prkch	UTSW	12	73,759,001 (GRCm38)	missense	possibly damaging	0.88
R2114:Prkch	UTSW	12	73,702,516 (GRCm38)	missense	probably benign
R3714:Prkch	UTSW	12	73,775,516 (GRCm38)	missense	probably damaging	1.00
R4515:Prkch	UTSW	12	73,702,838 (GRCm38)	missense	possibly damaging	0.76
R4749:Prkch	UTSW	12	73,692,960 (GRCm38)	missense	probably damaging	1.00
R5381:Prkch	UTSW	12	73,691,592 (GRCm38)	missense	probably damaging	0.99
R5682:Prkch	UTSW	12	73,697,950 (GRCm38)	missense	probably damaging	1.00
R6526:Prkch	UTSW	12	73,702,775 (GRCm38)	missense	probably damaging	1.00
R6864:Prkch	UTSW	12	73,759,617 (GRCm38)	missense	probably damaging	1.00
R7484:Prkch	UTSW	12	73,585,527 (GRCm38)	critical splice donor site	probably null
R8074:Prkch	UTSW	12	73,700,267 (GRCm38)	missense	possibly damaging	0.49
R8294:Prkch	UTSW	12	73,759,710 (GRCm38)	missense	probably damaging	1.00
R8301:Prkch	UTSW	12	73,702,764 (GRCm38)	missense	possibly damaging	0.71
R8312:Prkch	UTSW	12	73,760,584 (GRCm38)	missense	noncoding transcript
R8734:Prkch	UTSW	12	73,585,244 (GRCm38)	missense	possibly damaging	0.62
R8766:Prkch	UTSW	12	73,702,538 (GRCm38)	missense	probably benign	0.01
R8998:Prkch	UTSW	12	73,696,199 (GRCm38)	missense	probably damaging	1.00
R8999:Prkch	UTSW	12	73,696,199 (GRCm38)	missense	probably damaging	1.00
R9058:Prkch	UTSW	12	73,775,534 (GRCm38)	critical splice donor site	probably null
R9152:Prkch	UTSW	12	73,691,644 (GRCm38)	missense	possibly damaging	0.91
R9176:Prkch	UTSW	12	73,700,194 (GRCm38)	missense	probably damaging	1.00
R9194:Prkch	UTSW	12	73,721,842 (GRCm38)	missense	probably damaging	1.00
R9691:Prkch	UTSW	12	73,758,956 (GRCm38)	missense	probably damaging	1.00
R9764:Prkch	UTSW	12	73,700,304 (GRCm38)	missense	probably benign	0.00
R9794:Prkch	UTSW	12	73,697,970 (GRCm38)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GGACCTTCTCACATGTACCCAC -3'
(R):5'- TGCCCAGGTTGTCAGACATG -3'

Sequencing Primer
(F):5'- ACACTCTCAAGCCTCGGGTC -3'
(R):5'- TTGAGGGCCGATTCCAGG -3'

Posted On

2016-04-27