Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Prkch'

734838

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73631570-73824959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73744744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 252 (N252K)

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: N252K

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: N252K

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

probably benign
Transcript: ENSMUST00000221153

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Acacb	T	C	5: 114,387,578 (GRCm39)	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Galnt6	C	A	15: 100,595,859 (GRCm39)	V390L	probably damaging	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mideas	T	A	12: 84,220,576 (GRCm39)	Q126L	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Myzap	A	T	9: 71,487,082 (GRCm39)	M15K	probably benign	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Rnf32	T	C	5: 29,429,125 (GRCm39)	I234T	probably damaging	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,977,252 (GRCm39)	N417S	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCTAAGATCCAAATAGCAGG -3'
(R):5'- GCCCAACCAGTGATGCTTAAATAAC -3'

Sequencing Primer
(F):5'- TCCAAATAGCAGGACAGTTCTG -3'
(R):5'- TTAATATGTAAACCATCAGCCCCAGG -3'

Posted On

2022-11-14