Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Prkce'

590106

Institutional Source

Beutler Lab

Gene Symbol

Prkce

Ensembl Gene

ENSMUSG00000045038

Gene Name

protein kinase C, epsilon

Synonyms

Pkce, PKCepsilon, PKC[e], 5830406C15Rik

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86167785-86657919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86168600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000094873 (fasta)

Gene Model

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

AlphaFold

P16054

Predicted Effect

probably benign
Transcript: ENSMUST00000097274
AA Change: V3A

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: V3A

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 benign
Transcript: ENSMUST00000097275
AA Change: V3A

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: V3A

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 benign
Transcript: ENSMUST00000142003
AA Change: V3A

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138615
Gene: ENSMUSG00000045038
AA Change: V3A

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

Meta Mutation Damage Score

0.0798

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	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
R0403:Prkce	UTSW	17	86168653	missense	probably damaging	0.98
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
R8237:Prkce	UTSW	17	86559218	missense	probably damaging	1.00
R8711:Prkce	UTSW	17	86488197	missense	probably damaging	1.00
R8869:Prkce	UTSW	17	86168942	critical splice donor site	probably null
R9342:Prkce	UTSW	17	86474449	missense	probably damaging	1.00
RF010:Prkce	UTSW	17	86488199	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CATGCACTCGCTGAGAATCG -3'
(R):5'- AAGACAGCCAGCTCGATCTTG -3'

Sequencing Primer
(F):5'- CTGAGAATCGGCGGCGC -3'
(R):5'- AACTCATCGTGCCAGGC -3'

Posted On

2019-10-24