Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00548:Prkch'

4403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00548

Quality Score

Status

Chromosome

Chromosomal Location

73631570-73824959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73749585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 393 (Q393K)

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: Q393K

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

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: Q393K

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

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 110,976,081 (GRCm39)	Y146C	probably damaging	Het
Dctn5	T	A	7: 121,743,019 (GRCm39)	C120*	probably null	Het
Ddah2	A	G	17: 35,279,607 (GRCm39)	D109G	possibly damaging	Het
Dgke	G	A	11: 88,946,197 (GRCm39)	T201I	probably benign	Het
Elmo1	A	G	13: 20,445,749 (GRCm39)	I146V	probably benign	Het
Fam98a	T	C	17: 75,845,813 (GRCm39)	E311G	probably damaging	Het
Herc2	T	A	7: 55,856,313 (GRCm39)	M3881K	probably benign	Het
Mroh2b	A	G	15: 4,960,798 (GRCm39)	K787E	probably benign	Het
Neb	A	G	2: 52,133,984 (GRCm39)	V3333A	probably benign	Het
Rfx3	A	G	19: 27,783,586 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,004,565 (GRCm39)	T1281A	probably benign	Het
Usp24	A	G	4: 106,198,495 (GRCm39)	T134A	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
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
R9794:Prkch	UTSW	12	73,744,744 (GRCm39)	missense	possibly damaging	0.64

Posted On

2012-04-20