Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Prkce'

207489

Institutional Source

Beutler Lab

Gene Symbol

Prkce

Ensembl Gene

ENSMUSG00000045038

Gene Name

protein kinase C, epsilon

Synonyms

Pkce, PKCepsilon, PKC[e], 5830406C15Rik

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86167785-86657919 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 86475546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 202 (Q202*)

Ref Sequence

ENSEMBL: ENSMUSP00000094874 (fasta)

Gene Model

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

AlphaFold

P16054

Predicted Effect

probably null
Transcript: ENSMUST00000097274
AA Change: Q202*

SMART Domains

Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: Q202*

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 null
Transcript: ENSMUST00000097275
AA Change: Q202*

SMART Domains

Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: Q202*

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066		probably benign	Het
Adgra3	A	C	5: 49,961,492	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889		probably null	Het
Apob	T	C	12: 8,007,602	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258		probably null	Het
E430018J23Rik	A	C	7: 127,391,488	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270		probably null	Het
Invs	T	A	4: 48,422,035	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrif1	T	A	3: 106,732,811	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173		probably null	Het
Lypd6	T	A	2: 50,188,762	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309		probably null	Het
Nox3	G	T	17: 3,669,878	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225		probably null	Het
Pcnx	T	C	12: 81,980,935	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835		probably null	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757	K217E	probably damaging	Het
Psmd2	T	G	16: 20,656,582	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133		probably null	Het
Trim66	T	C	7: 109,475,839	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699	E80D	unknown	Het

Other mutations in Prkce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Prkce	APN	17	86,625,462 (GRCm38)	missense	probably damaging	0.99
IGL01401:Prkce	APN	17	86,168,840 (GRCm38)	missense	probably damaging	1.00
IGL01508:Prkce	APN	17	86,630,085 (GRCm38)	missense	probably damaging	1.00
IGL02500:Prkce	APN	17	86,168,914 (GRCm38)	missense	probably benign	0.16
IGL02957:Prkce	APN	17	86,496,026 (GRCm38)	missense	possibly damaging	0.74
IGL03114:Prkce	APN	17	86,654,555 (GRCm38)	missense	probably damaging	0.97
Pinnacles	UTSW	17	86,476,851 (GRCm38)	missense	probably damaging	1.00
R0063:Prkce	UTSW	17	86,482,111 (GRCm38)	splice site	probably benign
R0063:Prkce	UTSW	17	86,482,111 (GRCm38)	splice site	probably benign
R0403:Prkce	UTSW	17	86,168,653 (GRCm38)	missense	probably damaging	0.98
R0900:Prkce	UTSW	17	86,625,458 (GRCm38)	missense	probably damaging	1.00
R0919:Prkce	UTSW	17	86,630,160 (GRCm38)	missense	probably benign	0.06
R1413:Prkce	UTSW	17	86,496,018 (GRCm38)	missense	possibly damaging	0.81
R1430:Prkce	UTSW	17	86,559,137 (GRCm38)	splice site	probably benign
R2129:Prkce	UTSW	17	86,496,035 (GRCm38)	missense	possibly damaging	0.89
R2341:Prkce	UTSW	17	86,474,442 (GRCm38)	missense	probably damaging	1.00
R2511:Prkce	UTSW	17	86,625,326 (GRCm38)	missense	probably damaging	1.00
R2679:Prkce	UTSW	17	86,176,226 (GRCm38)	intron	probably benign
R3724:Prkce	UTSW	17	86,168,623 (GRCm38)	nonsense	probably null
R3853:Prkce	UTSW	17	86,168,849 (GRCm38)	missense	probably damaging	1.00
R4364:Prkce	UTSW	17	86,476,851 (GRCm38)	missense	probably damaging	1.00
R4467:Prkce	UTSW	17	86,619,911 (GRCm38)	missense	possibly damaging	0.68
R4523:Prkce	UTSW	17	86,490,750 (GRCm38)	critical splice acceptor site	probably null
R4838:Prkce	UTSW	17	86,630,083 (GRCm38)	missense	probably benign	0.07
R5140:Prkce	UTSW	17	86,482,142 (GRCm38)	missense	probably benign	0.12
R5579:Prkce	UTSW	17	86,619,948 (GRCm38)	missense	probably damaging	1.00
R6026:Prkce	UTSW	17	86,493,230 (GRCm38)	missense	probably benign	0.02
R6048:Prkce	UTSW	17	86,493,347 (GRCm38)	missense	probably benign
R6212:Prkce	UTSW	17	86,559,301 (GRCm38)	missense	probably damaging	1.00
R6484:Prkce	UTSW	17	86,490,809 (GRCm38)	missense	probably benign
R6788:Prkce	UTSW	17	86,630,061 (GRCm38)	missense	probably damaging	1.00
R6915:Prkce	UTSW	17	86,493,407 (GRCm38)	missense	probably damaging	1.00
R7349:Prkce	UTSW	17	86,493,355 (GRCm38)	missense	probably benign
R7447:Prkce	UTSW	17	86,559,259 (GRCm38)	missense	probably damaging	1.00
R7566:Prkce	UTSW	17	86,493,329 (GRCm38)	missense	probably benign	0.00
R7577:Prkce	UTSW	17	86,493,293 (GRCm38)	nonsense	probably null
R7638:Prkce	UTSW	17	86,168,600 (GRCm38)	missense	probably benign	0.26
R8237:Prkce	UTSW	17	86,559,218 (GRCm38)	missense	probably damaging	1.00
R8711:Prkce	UTSW	17	86,488,197 (GRCm38)	missense	probably damaging	1.00
R8869:Prkce	UTSW	17	86,168,942 (GRCm38)	critical splice donor site	probably null
R9342:Prkce	UTSW	17	86,474,449 (GRCm38)	missense	probably damaging	1.00
RF010:Prkce	UTSW	17	86,488,199 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAAAGCGAGGCTGTCCCTAG -3'
(R):5'- AGACAGGCAGTGCTTTGGTG -3'

Sequencing Primer
(F):5'- CTGGAAGGTGTTCTTAACCCTGC -3'
(R):5'- TGGCATAAGAGTGATGGCC -3'

Posted On

2014-06-23