Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Prkch'

232955

Institutional Source

Beutler Lab

Gene Symbol

Prkch

Ensembl Gene

ENSMUSG00000021108

Gene Name

protein kinase C, eta

Synonyms

Pkch

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73584796-73778185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73702516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 347 (S347T)

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: S347T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: S347T

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: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 155,047,729	R72G	probably benign	Het
Adgrb1	T	A	15: 74,540,562		probably null	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,787,938	V685I	probably benign	Het
Apba3	T	C	10: 81,273,112	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Ash1l	C	T	3: 88,983,264	L817F	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Bmp10	A	C	6: 87,434,459	E411D	probably benign	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Ces1a	A	G	8: 93,039,551	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,179,489	V345I	probably damaging	Het
Ckmt2	T	A	13: 91,855,845	I345F	probably benign	Het
Col5a2	T	A	1: 45,376,804	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,144,035	N1492S	probably damaging	Het
Dock3	T	C	9: 106,993,544	N557S	probably benign	Het
Edem2	G	A	2: 155,702,559	R424C	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
Eya1	A	T	1: 14,270,774	F163I	probably damaging	Het
Ezh1	A	C	11: 101,208,185	S290A	probably benign	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Fat4	A	T	3: 38,981,484	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,506,640	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,714,241	C173W	probably damaging	Het
Gcc2	T	A	10: 58,269,540	C99*	probably null	Het
Gcn1l1	A	T	5: 115,598,825	M1276L	probably benign	Het
Gm14124	T	A	2: 150,267,899	C170S	unknown	Het
Gm266	T	G	12: 111,485,682	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,673,012	E264V	probably damaging	Het
Ift74	A	G	4: 94,627,259	T138A	probably benign	Het
Ikzf1	T	G	11: 11,769,473	H480Q	probably damaging	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,739,359	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,759,595	M4T	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lrwd1	T	A	5: 136,130,478	Y431F	probably damaging	Het
Madd	A	G	2: 91,164,022	V884A	probably damaging	Het
Maz	C	A	7: 127,025,505	C281F	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mllt10	A	G	2: 18,162,569	N435S	probably benign	Het
Mrm3	T	C	11: 76,244,521	M186T	possibly damaging	Het
Naprt	T	C	15: 75,891,788	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,546,909	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,133,265	N157I	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Obscn	C	T	11: 59,131,658	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,436,212	E137G	probably damaging	Het
Pdk2	A	G	11: 95,027,262	Y382H	probably damaging	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pik3r2	T	C	8: 70,769,385	I585V	probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,320,970	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,469,450	N9D	probably damaging	Het
Prex2	T	A	1: 11,186,713	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,667,395	M236L	possibly damaging	Het
Prkar2b	T	A	12: 31,967,280	N257I	probably damaging	Het
Prkcd	A	G	14: 30,605,851	C208R	probably damaging	Het
Prr12	A	G	7: 45,046,082	V1320A	unknown	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptx3	T	A	3: 66,224,766	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rgr	T	A	14: 37,038,852		probably null	Het
Rgs7	T	A	1: 175,091,073	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,817,549	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,149,567	E781V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Rusc1	T	C	3: 89,091,707	D256G	probably benign	Het
Scap	T	C	9: 110,381,273	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Slc24a2	C	T	4: 86,991,355	V664I	probably benign	Het
Stim2	A	G	5: 54,104,477	Q237R	probably damaging	Het
Synpo2	T	A	3: 123,079,888	H1143L	probably benign	Het
Syt4	A	G	18: 31,440,467	Y332H	probably damaging	Het
Tcf23	G	A	5: 30,973,575	D186N	probably benign	Het
Tcf3	C	A	10: 80,410,206	G628W	probably damaging	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,975,629	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,622,551	E92G	probably damaging	Het
Ttn	A	T	2: 76,747,008	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,145,027	E587G	probably benign	Het
Ubr4	A	T	4: 139,429,611	K2316*	probably null	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Vat1	A	T	11: 101,465,742	V131E	probably damaging	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Zfp592	G	A	7: 81,024,796	V503M	probably damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	probably damaging	Het
Zscan30	A	G	18: 23,971,116		noncoding transcript	Het

Other mutations in Prkch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Prkch	APN	12	73702589	splice site	probably benign
IGL00548:Prkch	APN	12	73702811	missense	probably damaging	1.00
IGL01310:Prkch	APN	12	73759013	missense	possibly damaging	0.78
IGL01782:Prkch	APN	12	73759662	missense	probably damaging	1.00
IGL02335:Prkch	APN	12	73702512	missense	probably benign	0.00
Nighthawk	UTSW	12	73721842	missense	probably damaging	1.00
Topsoil	UTSW	12	73585527	critical splice donor site	probably null
wolfcreek	UTSW	12	73759710	missense	probably damaging	1.00
G1Funyon:Prkch	UTSW	12	73702764	missense	possibly damaging	0.71
R0084:Prkch	UTSW	12	73697987	missense	possibly damaging	0.87
R0127:Prkch	UTSW	12	73721787	missense	possibly damaging	0.94
R0471:Prkch	UTSW	12	73691652	missense	probably benign	0.03
R0490:Prkch	UTSW	12	73759676	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73585389	missense	probably damaging	1.00
R1402:Prkch	UTSW	12	73585389	missense	probably damaging	1.00
R1552:Prkch	UTSW	12	73702546	missense	probably benign	0.33
R1572:Prkch	UTSW	12	73649357	critical splice donor site	probably null
R1651:Prkch	UTSW	12	73759001	missense	possibly damaging	0.88
R3714:Prkch	UTSW	12	73775516	missense	probably damaging	1.00
R4515:Prkch	UTSW	12	73702838	missense	possibly damaging	0.76
R4749:Prkch	UTSW	12	73692960	missense	probably damaging	1.00
R4977:Prkch	UTSW	12	73702893	missense	possibly damaging	0.52
R5381:Prkch	UTSW	12	73691592	missense	probably damaging	0.99
R5682:Prkch	UTSW	12	73697950	missense	probably damaging	1.00
R6526:Prkch	UTSW	12	73702775	missense	probably damaging	1.00
R6864:Prkch	UTSW	12	73759617	missense	probably damaging	1.00
R7484:Prkch	UTSW	12	73585527	critical splice donor site	probably null
R8074:Prkch	UTSW	12	73700267	missense	possibly damaging	0.49
R8294:Prkch	UTSW	12	73759710	missense	probably damaging	1.00
R8301:Prkch	UTSW	12	73702764	missense	possibly damaging	0.71
R8312:Prkch	UTSW	12	73760584	missense	noncoding transcript
R8734:Prkch	UTSW	12	73585244	missense	possibly damaging	0.62
R8766:Prkch	UTSW	12	73702538	missense	probably benign	0.01
R8998:Prkch	UTSW	12	73696199	missense	probably damaging	1.00
R8999:Prkch	UTSW	12	73696199	missense	probably damaging	1.00
R9058:Prkch	UTSW	12	73775534	critical splice donor site	probably null
R9152:Prkch	UTSW	12	73691644	missense	possibly damaging	0.91
R9176:Prkch	UTSW	12	73700194	missense	probably damaging	1.00
R9194:Prkch	UTSW	12	73721842	missense	probably damaging	1.00
R9691:Prkch	UTSW	12	73758956	missense	probably damaging	1.00
R9764:Prkch	UTSW	12	73700304	missense	probably benign	0.00
R9794:Prkch	UTSW	12	73697970	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CAGTGCATACAGACCAGAAGTG -3'
(R):5'- ACATGTGAGAAGGTCCGGTG -3'

Sequencing Primer
(F):5'- GTTAAAGAAGCTGGACATCTGCCC -3'
(R):5'- AGAAGGTCCGGTGTCCCC -3'

Posted On

2014-09-18