Mutagenetix > Incidental Mutations

Incidental Mutation 'R0403:Prkce'

35744

Institutional Source

Beutler Lab

Gene Symbol

Prkce

Ensembl Gene

ENSMUSG00000045038

Gene Name

protein kinase C, epsilon

Synonyms

Pkce, PKCepsilon, PKC[e], 5830406C15Rik

MMRRC Submission

038608-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0403 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

86167785-86657919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86168653 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 21 (T21A)

Ref Sequence

ENSEMBL: ENSMUSP00000138615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097274] [ENSMUST00000097275] [ENSMUST00000142003]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097274
AA Change: T21A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: T21A

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

possibly damaging
Transcript: ENSMUST00000097275
AA Change: T21A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: T21A

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: ENSMUST00000142003
AA Change: T21A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138615
Gene: ENSMUSG00000045038
AA Change: T21A

Domain	Start	End	E-Value	Type
C2	7	114	5.78e-12	SMART

Meta Mutation Damage Score

0.3124

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,973,880		probably null	Het
Adgrg3	C	T	8: 95,036,922	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,818,839	C244S	probably damaging	Het
Ap4b1	T	A	3: 103,821,396	M590K	probably benign	Het
Arhgap15	C	T	2: 44,063,766	T168I	probably damaging	Het
Arntl2	T	A	6: 146,822,655	H348Q	probably damaging	Het
Atp8b1	A	G	18: 64,540,310	V997A	probably damaging	Het
Atrn	G	A	2: 130,906,859	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,271,216	A151S	probably benign	Het
Baz2b	A	T	2: 59,969,377	D199E	possibly damaging	Het
Cblb	A	G	16: 52,152,626	D440G	probably benign	Het
Cdon	T	C	9: 35,473,500	V694A	probably benign	Het
Cep250	A	T	2: 155,992,349	R2065W	probably damaging	Het
Ces2b	G	T	8: 104,833,945	A131S	probably damaging	Het
Chrna9	A	T	5: 65,967,892	T59S	possibly damaging	Het
Cog3	T	A	14: 75,742,327		probably benign	Het
Cpa1	G	A	6: 30,641,857	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,998,513	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,249,601		probably null	Het
Ddx60	A	G	8: 61,994,541		probably benign	Het
Dhx16	T	C	17: 35,883,050		probably null	Het
Dnah9	T	A	11: 66,084,789	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,524,070	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,804,436	D325V	probably damaging	Het
Entpd6	C	A	2: 150,760,170	T194K	possibly damaging	Het
Fam208b	A	T	13: 3,582,052	Y816*	probably null	Het
Fat2	A	T	11: 55,270,349	V3185E	probably benign	Het
Flrt1	A	G	19: 7,095,919	L421P	probably benign	Het
Fmn2	A	T	1: 174,694,278	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,775,588		probably null	Het
Fndc1	T	C	17: 7,753,723	D1459G	probably damaging	Het
Fzr1	A	G	10: 81,369,368	S265P	possibly damaging	Het
Gm13119	A	G	4: 144,362,646	N178S	probably benign	Het
Gm14085	T	C	2: 122,521,854	L364S	probably damaging	Het
Gpr142	G	A	11: 114,806,029	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,357,620	V24L	possibly damaging	Het
Herc2	G	A	7: 56,159,417	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,820,479	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,908,659	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,355,591	I186V	probably benign	Het
Itga2b	C	T	11: 102,467,326		probably null	Het
Itgae	A	C	11: 73,123,183	D736A	possibly damaging	Het
Itpkc	T	A	7: 27,208,345	M645L	probably benign	Het
Jchain	T	C	5: 88,521,378	R139G	probably benign	Het
Kif13a	A	G	13: 46,791,401	V908A	probably damaging	Het
Kif1b	T	A	4: 149,181,967	K389*	probably null	Het
Klhl12	T	C	1: 134,485,856	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,853,053	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191	N27Y	probably damaging	Het
Lpar2	T	A	8: 69,824,152	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,740,979	N128S	probably damaging	Het
Lum	G	T	10: 97,572,043	V337F	probably benign	Het
Mag	T	C	7: 30,906,980	D344G	probably damaging	Het
Maip1	G	A	1: 57,407,196	A142T	probably benign	Het
Mlh3	A	G	12: 85,268,968	V148A	possibly damaging	Het
Nav3	A	G	10: 109,767,103	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,033,337	S868P	possibly damaging	Het
Nek1	A	G	8: 61,106,855	E907G	probably damaging	Het
Nfam1	G	A	15: 83,016,379	T134I	probably benign	Het
Nr0b2	T	C	4: 133,553,759	V112A	probably damaging	Het
Nrp1	A	G	8: 128,457,969	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,369,790	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,934,611	A282V	probably damaging	Het
Nxf1	T	C	19: 8,765,028	I337T	probably damaging	Het
Obscn	C	T	11: 59,076,540	G479D	probably damaging	Het
Olfr45	T	C	7: 140,691,309	S135P	possibly damaging	Het
Oprd1	T	A	4: 132,113,768	D293V	probably benign	Het
P3h2	T	G	16: 25,969,950	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,085,367	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Ppic	C	A	18: 53,411,071	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 20,957,041	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,584,102	S46A	probably benign	Het
Prkg2	T	C	5: 98,994,645	E210G	possibly damaging	Het
Prss35	A	G	9: 86,756,037	M287V	probably damaging	Het
Psd	G	A	19: 46,320,972		probably benign	Het
Ptch2	A	T	4: 117,110,839	K843*	probably null	Het
Rab44	C	A	17: 29,145,261	T603K	probably damaging	Het
Rasal3	T	A	17: 32,392,790		probably null	Het
Rbbp6	A	G	7: 122,992,296	T526A	probably damaging	Het
Ros1	A	T	10: 52,143,438		probably benign	Het
Sec24b	T	A	3: 129,989,676	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,999,534	S685P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Setmar	A	T	6: 108,075,962	H139L	probably benign	Het
Slc4a7	T	C	14: 14,766,808	V710A	probably benign	Het
Smarcc1	T	A	9: 110,237,808		probably null	Het
Smchd1	G	A	17: 71,394,902	L1032F	probably damaging	Het
Speg	T	C	1: 75,430,784		probably benign	Het
Tcea1	C	G	1: 4,889,503	R134G	probably benign	Het
Tchhl1	C	T	3: 93,471,029	Q347*	probably null	Het
Tecrl	A	T	5: 83,354,758		probably benign	Het
Tepsin	T	C	11: 120,093,682		probably benign	Het
Tmem40	G	A	6: 115,733,985		probably benign	Het
Tpr	G	A	1: 150,407,414		probably benign	Het
Ttll12	A	T	15: 83,580,658		probably benign	Het
Ttn	T	A	2: 76,909,608	D3529V	probably benign	Het
Usp34	T	A	11: 23,333,838	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,338,461	S327T	probably benign	Het
Zbtb4	T	A	11: 69,777,639	M396K	probably damaging	Het
Zfp352	C	T	4: 90,225,009	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,476,845	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,971,689	V65F	possibly damaging	Het

Other mutations in Prkce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Prkce	APN	17	86625462	missense	probably damaging	0.99
IGL01401:Prkce	APN	17	86168840	missense	probably damaging	1.00
IGL01508:Prkce	APN	17	86630085	missense	probably damaging	1.00
IGL02500:Prkce	APN	17	86168914	missense	probably benign	0.16
IGL02957:Prkce	APN	17	86496026	missense	possibly damaging	0.74
IGL03114:Prkce	APN	17	86654555	missense	probably damaging	0.97
Pinnacles	UTSW	17	86476851	missense	probably damaging	1.00
R0063:Prkce	UTSW	17	86482111	splice site	probably benign
R0063:Prkce	UTSW	17	86482111	splice site	probably benign
R0900:Prkce	UTSW	17	86625458	missense	probably damaging	1.00
R0919:Prkce	UTSW	17	86630160	missense	probably benign	0.06
R1413:Prkce	UTSW	17	86496018	missense	possibly damaging	0.81
R1430:Prkce	UTSW	17	86559137	splice site	probably benign
R1843:Prkce	UTSW	17	86475546	nonsense	probably null
R2129:Prkce	UTSW	17	86496035	missense	possibly damaging	0.89
R2341:Prkce	UTSW	17	86474442	missense	probably damaging	1.00
R2511:Prkce	UTSW	17	86625326	missense	probably damaging	1.00
R2679:Prkce	UTSW	17	86176226	intron	probably benign
R3724:Prkce	UTSW	17	86168623	nonsense	probably null
R3853:Prkce	UTSW	17	86168849	missense	probably damaging	1.00
R4364:Prkce	UTSW	17	86476851	missense	probably damaging	1.00
R4467:Prkce	UTSW	17	86619911	missense	possibly damaging	0.68
R4523:Prkce	UTSW	17	86490750	critical splice acceptor site	probably null
R4838:Prkce	UTSW	17	86630083	missense	probably benign	0.07
R5140:Prkce	UTSW	17	86482142	missense	probably benign	0.12
R5579:Prkce	UTSW	17	86619948	missense	probably damaging	1.00
R6026:Prkce	UTSW	17	86493230	missense	probably benign	0.02
R6048:Prkce	UTSW	17	86493347	missense	probably benign
R6212:Prkce	UTSW	17	86559301	missense	probably damaging	1.00
R6484:Prkce	UTSW	17	86490809	missense	probably benign
R6788:Prkce	UTSW	17	86630061	missense	probably damaging	1.00
R6915:Prkce	UTSW	17	86493407	missense	probably damaging	1.00
R7349:Prkce	UTSW	17	86493355	missense	probably benign
R7447:Prkce	UTSW	17	86559259	missense	probably damaging	1.00
R7566:Prkce	UTSW	17	86493329	missense	probably benign	0.00
R7577:Prkce	UTSW	17	86493293	nonsense	probably null
R7638:Prkce	UTSW	17	86168600	missense	probably benign	0.26
RF010:Prkce	UTSW	17	86488199	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCCGGCGAGGAAATACATGCAC -3'
(R):5'- ACCAATGCTCAGGCAGCAAGTC -3'

Sequencing Primer
(F):5'- ATGCACTCGCTGAGAATCG -3'
(R):5'- AAGTGACGGCTCCCATTCTG -3'

Posted On

2013-05-09