Mutagenetix > Incidental Mutation

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

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 (GRCm38)

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]

AlphaFold

P16054

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 (GRCm38)		probably null	Het
Adgrg3	C	T	8: 95,036,922 (GRCm38)	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469 (GRCm38)	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,818,839 (GRCm38)	C244S	probably damaging	Het
Ap4b1	T	A	3: 103,821,396 (GRCm38)	M590K	probably benign	Het
Arhgap15	C	T	2: 44,063,766 (GRCm38)	T168I	probably damaging	Het
Atp8b1	A	G	18: 64,540,310 (GRCm38)	V997A	probably damaging	Het
Atrn	G	A	2: 130,906,859 (GRCm38)	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,271,216 (GRCm38)	A151S	probably benign	Het
Baz2b	A	T	2: 59,969,377 (GRCm38)	D199E	possibly damaging	Het
Bmal2	T	A	6: 146,822,655 (GRCm38)	H348Q	probably damaging	Het
Cblb	A	G	16: 52,152,626 (GRCm38)	D440G	probably benign	Het
Cdon	T	C	9: 35,473,500 (GRCm38)	V694A	probably benign	Het
Cep250	A	T	2: 155,992,349 (GRCm38)	R2065W	probably damaging	Het
Ces2b	G	T	8: 104,833,945 (GRCm38)	A131S	probably damaging	Het
Chrna9	A	T	5: 65,967,892 (GRCm38)	T59S	possibly damaging	Het
Cog3	T	A	14: 75,742,327 (GRCm38)		probably benign	Het
Cpa1	G	A	6: 30,641,857 (GRCm38)	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,998,513 (GRCm38)	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,249,601 (GRCm38)		probably null	Het
Ddx60	A	G	8: 61,994,541 (GRCm38)		probably benign	Het
Dhx16	T	C	17: 35,883,050 (GRCm38)		probably null	Het
Dnah9	T	A	11: 66,084,789 (GRCm38)	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,524,070 (GRCm38)	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,804,436 (GRCm38)	D325V	probably damaging	Het
Entpd6	C	A	2: 150,760,170 (GRCm38)	T194K	possibly damaging	Het
Fat2	A	T	11: 55,270,349 (GRCm38)	V3185E	probably benign	Het
Flrt1	A	G	19: 7,095,919 (GRCm38)	L421P	probably benign	Het
Fmn2	A	T	1: 174,694,278 (GRCm38)	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,753,723 (GRCm38)	D1459G	probably damaging	Het
Fndc1	T	C	17: 7,775,588 (GRCm38)		probably null	Het
Fzr1	A	G	10: 81,369,368 (GRCm38)	S265P	possibly damaging	Het
Gpr142	G	A	11: 114,806,029 (GRCm38)	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,357,620 (GRCm38)	V24L	possibly damaging	Het
Herc2	G	A	7: 56,159,417 (GRCm38)	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,820,479 (GRCm38)	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,908,659 (GRCm38)	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,355,591 (GRCm38)	I186V	probably benign	Het
Itga2b	C	T	11: 102,467,326 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,123,183 (GRCm38)	D736A	possibly damaging	Het
Itpkc	T	A	7: 27,208,345 (GRCm38)	M645L	probably benign	Het
Jchain	T	C	5: 88,521,378 (GRCm38)	R139G	probably benign	Het
Kif13a	A	G	13: 46,791,401 (GRCm38)	V908A	probably damaging	Het
Kif1b	T	A	4: 149,181,967 (GRCm38)	K389*	probably null	Het
Klhl12	T	C	1: 134,485,856 (GRCm38)	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,853,053 (GRCm38)	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191 (GRCm38)	N27Y	probably damaging	Het
Lpar2	T	A	8: 69,824,152 (GRCm38)	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,740,979 (GRCm38)	N128S	probably damaging	Het
Lum	G	T	10: 97,572,043 (GRCm38)	V337F	probably benign	Het
Mag	T	C	7: 30,906,980 (GRCm38)	D344G	probably damaging	Het
Maip1	G	A	1: 57,407,196 (GRCm38)	A142T	probably benign	Het
Mlh3	A	G	12: 85,268,968 (GRCm38)	V148A	possibly damaging	Het
Nav3	A	G	10: 109,767,103 (GRCm38)	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,033,337 (GRCm38)	S868P	possibly damaging	Het
Nek1	A	G	8: 61,106,855 (GRCm38)	E907G	probably damaging	Het
Nfam1	G	A	15: 83,016,379 (GRCm38)	T134I	probably benign	Het
Nr0b2	T	C	4: 133,553,759 (GRCm38)	V112A	probably damaging	Het
Nrp1	A	G	8: 128,457,969 (GRCm38)	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,369,790 (GRCm38)	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,934,611 (GRCm38)	A282V	probably damaging	Het
Nxf1	T	C	19: 8,765,028 (GRCm38)	I337T	probably damaging	Het
Obscn	C	T	11: 59,076,540 (GRCm38)	G479D	probably damaging	Het
Oprd1	T	A	4: 132,113,768 (GRCm38)	D293V	probably benign	Het
Or13a17	T	C	7: 140,691,309 (GRCm38)	S135P	possibly damaging	Het
P3h2	T	G	16: 25,969,950 (GRCm38)	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,085,367 (GRCm38)	Y214C	probably damaging	Het
Pkd1l3	G	A	8: 109,623,663 (GRCm38)	S380N	probably benign	Het
Pkd1l3	C	G	8: 109,623,649 (GRCm38)	D375E	possibly damaging	Het
Ppic	C	A	18: 53,411,071 (GRCm38)	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 20,957,041 (GRCm38)	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,584,102 (GRCm38)	S46A	probably benign	Het
Pramel31	A	G	4: 144,362,646 (GRCm38)	N178S	probably benign	Het
Prkg2	T	C	5: 98,994,645 (GRCm38)	E210G	possibly damaging	Het
Prss35	A	G	9: 86,756,037 (GRCm38)	M287V	probably damaging	Het
Psd	G	A	19: 46,320,972 (GRCm38)		probably benign	Het
Ptch2	A	T	4: 117,110,839 (GRCm38)	K843*	probably null	Het
Rab44	C	A	17: 29,145,261 (GRCm38)	T603K	probably damaging	Het
Rasal3	T	A	17: 32,392,790 (GRCm38)		probably null	Het
Rbbp6	A	G	7: 122,992,296 (GRCm38)	T526A	probably damaging	Het
Ros1	A	T	10: 52,143,438 (GRCm38)		probably benign	Het
Sec24b	A	G	3: 129,999,534 (GRCm38)	S685P	probably damaging	Het
Sec24b	T	A	3: 129,989,676 (GRCm38)	L1104F	possibly damaging	Het
Sema6a	G	A	18: 47,290,045 (GRCm38)		probably null	Het
Setmar	A	T	6: 108,075,962 (GRCm38)	H139L	probably benign	Het
Slc28a2b	T	C	2: 122,521,854 (GRCm38)	L364S	probably damaging	Het
Slc4a7	T	C	14: 14,766,808 (GRCm38)	V710A	probably benign	Het
Smarcc1	T	A	9: 110,237,808 (GRCm38)		probably null	Het
Smchd1	G	A	17: 71,394,902 (GRCm38)	L1032F	probably damaging	Het
Speg	T	C	1: 75,430,784 (GRCm38)		probably benign	Het
Tasor2	A	T	13: 3,582,052 (GRCm38)	Y816*	probably null	Het
Tcea1	C	G	1: 4,889,503 (GRCm38)	R134G	probably benign	Het
Tchhl1	C	T	3: 93,471,029 (GRCm38)	Q347*	probably null	Het
Tecrl	A	T	5: 83,354,758 (GRCm38)		probably benign	Het
Tepsin	T	C	11: 120,093,682 (GRCm38)		probably benign	Het
Tmem40	G	A	6: 115,733,985 (GRCm38)		probably benign	Het
Tpr	G	A	1: 150,407,414 (GRCm38)		probably benign	Het
Ttll12	A	T	15: 83,580,658 (GRCm38)		probably benign	Het
Ttn	T	A	2: 76,909,608 (GRCm38)	D3529V	probably benign	Het
Usp34	T	A	11: 23,333,838 (GRCm38)	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,338,461 (GRCm38)	S327T	probably benign	Het
Zbtb4	T	A	11: 69,777,639 (GRCm38)	M396K	probably damaging	Het
Zfp352	C	T	4: 90,225,009 (GRCm38)	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,476,845 (GRCm38)	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,971,689 (GRCm38)	V65F	possibly damaging	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
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
R1843:Prkce	UTSW	17	86,475,546 (GRCm38)	nonsense	probably null
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'- TCCGGCGAGGAAATACATGCAC -3'
(R):5'- ACCAATGCTCAGGCAGCAAGTC -3'

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

Posted On

2013-05-09