Mutagenetix > Incidental Mutation

Incidental Mutation 'R8711:Prkce'

669611

Institutional Source

Beutler Lab

Gene Symbol

Prkce

Ensembl Gene

ENSMUSG00000045038

Gene Name

protein kinase C, epsilon

Synonyms

PKCepsilon, PCK epsilon, Pkce, PKC[e], 5830406C15Rik

MMRRC Submission

068565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86475213-86965347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86795625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 287 (N287K)

Ref Sequence

ENSEMBL: ENSMUSP00000094873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097274] [ENSMUST00000097275]

AlphaFold

P16054

Predicted Effect

probably damaging
Transcript: ENSMUST00000097274
AA Change: N287K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: N287K

Domain	Start	End	E-Value	Type
C2	7	114	5.78e-12	SMART
C1	170	220	4.48e-13	SMART
C1	243	292	8.29e-17	SMART
S_TKc	408	668	1.3e-104	SMART
S_TK_X	669	732	2.56e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097275
AA Change: N287K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: N287K

Domain	Start	End	E-Value	Type
C2	7	114	5.78e-12	SMART
C1	170	220	4.48e-13	SMART
C1	243	292	8.29e-17	SMART
S_TKc	408	668	1.3e-104	SMART
S_TK_X	669	732	2.56e-25	SMART

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced ethanol self-administration and are more sensitive to the acute behavioral effects of ethanol and other drugs that activate GABA(A) receptors. Mutants show reduced anxiety and stress hormones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,969,120 (GRCm39)	S122T	probably benign	Het
Abcb11	G	A	2: 69,095,856 (GRCm39)	T828I	probably damaging	Het
Atp5f1b	T	A	10: 127,921,369 (GRCm39)	N222K	probably damaging	Het
C1qbp	T	C	11: 70,869,313 (GRCm39)	T211A	probably benign	Het
Ccdc85a	A	T	11: 28,384,146 (GRCm39)	S410T	possibly damaging	Het
Chd4	T	A	6: 125,100,485 (GRCm39)		probably benign	Het
Col10a1	G	T	10: 34,270,824 (GRCm39)	K265N	probably damaging	Het
Cyp2j5	A	T	4: 96,529,660 (GRCm39)	M237K	possibly damaging	Het
Cyp4f40	T	C	17: 32,894,962 (GRCm39)		probably benign	Het
Cytip	A	T	2: 58,041,135 (GRCm39)	F90L	probably damaging	Het
Dnah7b	A	G	1: 46,214,598 (GRCm39)	D1121G	probably damaging	Het
Dohh	G	T	10: 81,221,859 (GRCm39)	E84D	probably benign	Het
Efcab3	A	G	11: 104,743,371 (GRCm39)	I2187V	probably benign	Het
Eif1ad19	T	A	12: 87,740,130 (GRCm39)	D143V	unknown	Het
Eif4g2	T	C	7: 110,673,127 (GRCm39)	Y855C	probably damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Fasn	T	C	11: 120,709,944 (GRCm39)	D371G	possibly damaging	Het
Fat2	A	G	11: 55,159,129 (GRCm39)	S3348P	probably benign	Het
Fhad1	T	A	4: 141,684,924 (GRCm39)	N472Y	probably benign	Het
Flad1	A	G	3: 89,316,415 (GRCm39)	V49A	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,554 (GRCm39)	T196A	probably benign	Het
Fsip2	A	G	2: 82,815,246 (GRCm39)	N3660D	possibly damaging	Het
Gabrp	T	A	11: 33,505,023 (GRCm39)	L259F	probably damaging	Het
Gm16686	A	T	4: 88,673,473 (GRCm39)	W119R	unknown	Het
Gng2	C	T	14: 19,941,438 (GRCm39)	M1I	probably null	Het
Hmgxb3	T	C	18: 61,290,721 (GRCm39)	N384S	probably benign	Het
Ibtk	T	C	9: 85,606,208 (GRCm39)	I440V	probably benign	Het
Il11ra1	A	G	4: 41,767,539 (GRCm39)	D297G	probably damaging	Het
Irf2bpl	T	C	12: 86,928,496 (GRCm39)	I726V	probably benign	Het
Klk1b5	A	G	7: 43,867,996 (GRCm39)	N56S	probably benign	Het
Laptm4b	T	A	15: 34,277,648 (GRCm39)	V193E	probably damaging	Het
Lrrc37a	A	T	11: 103,388,350 (GRCm39)	C2358*	probably null	Het
Ltbp2	C	T	12: 84,900,515 (GRCm39)	S269N	probably benign	Het
Morc2a	T	G	11: 3,630,013 (GRCm39)	Y450D	probably damaging	Het
Mycbp2	A	T	14: 103,407,430 (GRCm39)	I2740K	probably benign	Het
Naif1	T	A	2: 32,344,848 (GRCm39)	V184E	probably damaging	Het
Neurl1b	T	C	17: 26,660,747 (GRCm39)	V540A	probably damaging	Het
Nt5c1b	T	A	12: 10,431,450 (GRCm39)	F451Y	probably damaging	Het
Obox3	A	G	7: 15,360,148 (GRCm39)	S174P	probably benign	Het
Obscn	T	C	11: 58,951,894 (GRCm39)	E3953G	probably damaging	Het
Or4a74	A	C	2: 89,440,291 (GRCm39)	S52A	probably benign	Het
Or4p19	A	T	2: 88,242,595 (GRCm39)	C136S	probably damaging	Het
Pkd1l1	G	A	11: 8,815,550 (GRCm39)	H1904Y		Het
Plec	C	T	15: 76,059,531 (GRCm39)	D3469N	probably benign	Het
Polr1b	A	G	2: 128,943,064 (GRCm39)	T20A	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Rchy1	C	A	5: 92,105,397 (GRCm39)	C108F	probably damaging	Het
Scpppq1	G	A	5: 104,219,956 (GRCm39)	T78I	unknown	Het
Sema6d	A	G	2: 124,502,232 (GRCm39)	Y572C	possibly damaging	Het
Sh3rf1	T	A	8: 61,783,030 (GRCm39)	I248K	probably damaging	Het
Sin3b	T	C	8: 73,450,026 (GRCm39)	L30P	probably damaging	Het
Slc25a47	G	A	12: 108,820,313 (GRCm39)	G106S	probably damaging	Het
Slc43a2	A	C	11: 75,457,879 (GRCm39)	M385L	probably benign	Het
Slc43a3	A	G	2: 84,768,671 (GRCm39)	T97A	probably damaging	Het
Slc9b2	T	A	3: 135,030,351 (GRCm39)	S223T	probably benign	Het
Smc5	A	T	19: 23,243,058 (GRCm39)	C118S	probably damaging	Het
Smpdl3b	T	C	4: 132,472,491 (GRCm39)	D94G	probably damaging	Het
Spred3	A	G	7: 28,866,086 (GRCm39)	V71A	possibly damaging	Het
Srsf5	T	A	12: 80,994,328 (GRCm39)	S86T	possibly damaging	Het
Sycp2	A	G	2: 177,990,088 (GRCm39)	V1386A	probably benign	Het
Syne2	T	C	12: 76,104,258 (GRCm39)	L743P	probably damaging	Het
Synj1	A	G	16: 90,806,971 (GRCm39)	V62A	probably damaging	Het
Tbc1d9b	T	C	11: 50,047,578 (GRCm39)	L637P	probably damaging	Het
Tcf12	T	G	9: 71,757,097 (GRCm39)	S697R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,123,508 (GRCm39)	Y31F	possibly damaging	Het
Trav5n-4	T	C	14: 53,550,362 (GRCm39)	M1T	probably null	Het
Trbv13-2	A	G	6: 41,098,716 (GRCm39)	E97G	probably benign	Het
Trpa1	G	A	1: 14,980,998 (GRCm39)	P135S	probably damaging	Het
Ugt1a6a	A	C	1: 88,066,590 (GRCm39)	D132A	possibly damaging	Het
Vmn2r8	A	T	5: 108,945,962 (GRCm39)	D548E	possibly damaging	Het
Zbtb39	A	T	10: 127,578,815 (GRCm39)	D463V	probably damaging	Het
Zc3h12c	C	T	9: 52,037,858 (GRCm39)		probably benign	Het
Zfp952	C	T	17: 33,222,004 (GRCm39)	P161L	possibly damaging	Het

Other mutations in Prkce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Prkce	APN	17	86,932,890 (GRCm39)	missense	probably damaging	0.99
IGL01401:Prkce	APN	17	86,476,268 (GRCm39)	missense	probably damaging	1.00
IGL01508:Prkce	APN	17	86,937,513 (GRCm39)	missense	probably damaging	1.00
IGL02500:Prkce	APN	17	86,476,342 (GRCm39)	missense	probably benign	0.16
IGL02957:Prkce	APN	17	86,803,454 (GRCm39)	missense	possibly damaging	0.74
IGL03114:Prkce	APN	17	86,961,983 (GRCm39)	missense	probably damaging	0.97
Pinnacles	UTSW	17	86,784,279 (GRCm39)	missense	probably damaging	1.00
R0063:Prkce	UTSW	17	86,789,539 (GRCm39)	splice site	probably benign
R0063:Prkce	UTSW	17	86,789,539 (GRCm39)	splice site	probably benign
R0403:Prkce	UTSW	17	86,476,081 (GRCm39)	missense	probably damaging	0.98
R0900:Prkce	UTSW	17	86,932,886 (GRCm39)	missense	probably damaging	1.00
R0919:Prkce	UTSW	17	86,937,588 (GRCm39)	missense	probably benign	0.06
R1413:Prkce	UTSW	17	86,803,446 (GRCm39)	missense	possibly damaging	0.81
R1430:Prkce	UTSW	17	86,866,565 (GRCm39)	splice site	probably benign
R1843:Prkce	UTSW	17	86,782,974 (GRCm39)	nonsense	probably null
R2129:Prkce	UTSW	17	86,803,463 (GRCm39)	missense	possibly damaging	0.89
R2341:Prkce	UTSW	17	86,781,870 (GRCm39)	missense	probably damaging	1.00
R2511:Prkce	UTSW	17	86,932,754 (GRCm39)	missense	probably damaging	1.00
R2679:Prkce	UTSW	17	86,483,654 (GRCm39)	intron	probably benign
R3724:Prkce	UTSW	17	86,476,051 (GRCm39)	nonsense	probably null
R3853:Prkce	UTSW	17	86,476,277 (GRCm39)	missense	probably damaging	1.00
R4364:Prkce	UTSW	17	86,784,279 (GRCm39)	missense	probably damaging	1.00
R4467:Prkce	UTSW	17	86,927,339 (GRCm39)	missense	possibly damaging	0.68
R4523:Prkce	UTSW	17	86,798,178 (GRCm39)	critical splice acceptor site	probably null
R4838:Prkce	UTSW	17	86,937,511 (GRCm39)	missense	probably benign	0.07
R5140:Prkce	UTSW	17	86,789,570 (GRCm39)	missense	probably benign	0.12
R5579:Prkce	UTSW	17	86,927,376 (GRCm39)	missense	probably damaging	1.00
R6026:Prkce	UTSW	17	86,800,658 (GRCm39)	missense	probably benign	0.02
R6048:Prkce	UTSW	17	86,800,775 (GRCm39)	missense	probably benign
R6212:Prkce	UTSW	17	86,866,729 (GRCm39)	missense	probably damaging	1.00
R6484:Prkce	UTSW	17	86,798,237 (GRCm39)	missense	probably benign
R6788:Prkce	UTSW	17	86,937,489 (GRCm39)	missense	probably damaging	1.00
R6915:Prkce	UTSW	17	86,800,835 (GRCm39)	missense	probably damaging	1.00
R7349:Prkce	UTSW	17	86,800,783 (GRCm39)	missense	probably benign
R7447:Prkce	UTSW	17	86,866,687 (GRCm39)	missense	probably damaging	1.00
R7566:Prkce	UTSW	17	86,800,757 (GRCm39)	missense	probably benign	0.00
R7577:Prkce	UTSW	17	86,800,721 (GRCm39)	nonsense	probably null
R7638:Prkce	UTSW	17	86,476,028 (GRCm39)	missense	probably benign	0.26
R8237:Prkce	UTSW	17	86,866,646 (GRCm39)	missense	probably damaging	1.00
R8869:Prkce	UTSW	17	86,476,370 (GRCm39)	critical splice donor site	probably null
R9342:Prkce	UTSW	17	86,781,877 (GRCm39)	missense	probably damaging	1.00
RF010:Prkce	UTSW	17	86,795,627 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTCTCTAATGGGATAGGCGGTG -3'
(R):5'- GCTATTTTGAGTAAGGTGCCGATC -3'

Sequencing Primer
(F):5'- CTAATGGGATAGGCGGTGGTTTTATC -3'
(R):5'- TTGAGTAAGGTGCCGATCCTAAACC -3'

Posted On

2021-04-30