Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Prkch'

357422

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

041969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73631570-73824959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73739734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 203 (C203S)

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: C203S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: C203S

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Adgra2	A	G	8: 27,604,225 (GRCm39)	K472E	probably damaging	Het
Akap9	A	G	5: 4,018,737 (GRCm39)	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,232,551 (GRCm39)	E1367G	possibly damaging	Het
Arsi	A	T	18: 61,050,533 (GRCm39)	Y472F	probably benign	Het
Asxl3	A	G	18: 22,649,826 (GRCm39)	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 87,252,135 (GRCm39)	D88N	probably benign	Het
BC061237	T	A	14: 44,743,469 (GRCm39)	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
C9	G	A	15: 6,519,311 (GRCm39)	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Ccna2	T	C	3: 36,620,391 (GRCm39)	S421G	probably benign	Het
Cflar	T	G	1: 58,779,431 (GRCm39)	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,267,131 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,315,732 (GRCm39)	F1342L	unknown	Het
Colq	C	T	14: 31,251,472 (GRCm39)	R313H	possibly damaging	Het
Coro6	A	G	11: 77,359,974 (GRCm39)	E345G	probably damaging	Het
Cracd	T	C	5: 77,006,681 (GRCm39)	V1014A	unknown	Het
Cyb561	A	G	11: 105,826,708 (GRCm39)	F182L	probably benign	Het
Dap3	A	G	3: 88,833,617 (GRCm39)	S317P	probably benign	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,579,888 (GRCm39)	E31G	possibly damaging	Het
Dsn1	G	A	2: 156,843,660 (GRCm39)	L147F	probably damaging	Het
Dysf	T	C	6: 84,043,990 (GRCm39)	V277A	probably damaging	Het
Eprs1	T	A	1: 185,128,327 (GRCm39)	I569K	probably damaging	Het
Erg	T	C	16: 95,162,029 (GRCm39)	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,166,409 (GRCm39)	D247N	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Foxn4	T	C	5: 114,393,628 (GRCm39)	D497G	probably damaging	Het
Fsip2	A	G	2: 82,819,629 (GRCm39)	I5121V	probably benign	Het
Gcn1	T	A	5: 115,752,461 (GRCm39)	D2155E	probably benign	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,004,887 (GRCm39)	V296A	probably benign	Het
Grid1	T	A	14: 35,302,644 (GRCm39)	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,057,370 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,649,931 (GRCm39)	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,537,672 (GRCm39)	V211A	probably damaging	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Ifi208	T	A	1: 173,523,180 (GRCm39)	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,727 (GRCm39)	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,072,487 (GRCm39)	Y64*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Map3k10	T	C	7: 27,357,786 (GRCm39)	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,007,798 (GRCm39)	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,868,973 (GRCm39)	E293G	possibly damaging	Het
Med21	T	A	6: 146,551,599 (GRCm39)		probably null	Het
Mettl18	T	C	1: 163,824,354 (GRCm39)	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,169 (GRCm39)	I432F	probably damaging	Het
Muc5b	T	G	7: 141,415,185 (GRCm39)	Y2710*	probably null	Het
Neurl4	A	T	11: 69,801,894 (GRCm39)	I1282F	probably benign	Het
Nipbl	A	T	15: 8,395,313 (GRCm39)	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,570,759 (GRCm39)	D167G	probably damaging	Het
Nrap	A	G	19: 56,368,669 (GRCm39)	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,351,526 (GRCm39)	T297A	probably benign	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or1e1	G	A	11: 73,245,322 (GRCm39)	V248M	probably damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or4k6	A	G	14: 50,476,190 (GRCm39)	S51P	probably damaging	Het
Or5b24	C	T	19: 12,912,581 (GRCm39)	H160Y	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Pcnx2	T	C	8: 126,614,327 (GRCm39)	S375G	probably damaging	Het
Pgap6	T	C	17: 26,335,757 (GRCm39)	F48S	probably damaging	Het
Phf2	A	T	13: 48,975,185 (GRCm39)		probably null	Het
Piezo1	A	T	8: 123,213,678 (GRCm39)	M1739K	possibly damaging	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Pml	C	T	9: 58,141,935 (GRCm39)	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,574,130 (GRCm39)	M236K	probably damaging	Het
Prob1	C	T	18: 35,785,869 (GRCm39)	R795H	possibly damaging	Het
Prr22	G	C	17: 57,078,274 (GRCm39)	E142D	possibly damaging	Het
Prss56	C	A	1: 87,113,305 (GRCm39)	A211E	possibly damaging	Het
Qser1	A	C	2: 104,617,649 (GRCm39)	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,720,694 (GRCm39)		probably null	Het
Rhot2	C	A	17: 26,063,248 (GRCm39)	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,267,249 (GRCm39)	T945M	probably damaging	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,231,767 (GRCm39)	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,198,796 (GRCm39)	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc4a11	C	A	2: 130,532,787 (GRCm39)	R222L	probably damaging	Het
Slc7a10	C	T	7: 34,900,187 (GRCm39)	P502S	probably damaging	Het
Sort1	T	G	3: 108,263,639 (GRCm39)	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,289,832 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,913,876 (GRCm39)	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Topors	A	T	4: 40,261,015 (GRCm39)	S756R	unknown	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Ube2o	T	C	11: 116,432,734 (GRCm39)	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,640,013 (GRCm39)	I197V	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	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
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'- AACAGCACACTTTCTGTACCTC -3'
(R):5'- AAGCTGCAAAGCTCTTCTGG -3'

Sequencing Primer
(F):5'- CTTCCCCGAAGAGATGTTTTTC -3'
(R):5'- TACTGTCAAAAACGTCCAGGGTCTG -3'

Posted On

2015-11-11