Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Cyp2j6'

487016

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j6

Ensembl Gene

ENSMUSG00000052914

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 6

Synonyms

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96404375-96441898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 96424323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 145 (L145V)

Ref Sequence

ENSEMBL: ENSMUSP00000030303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030303]

AlphaFold

O54750

Predicted Effect

probably damaging
Transcript: ENSMUST00000030303
AA Change: L145V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: L145V

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	44	497	6.6e-138	PFAM

Meta Mutation Damage Score

0.4800

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Ctsl	T	C	13: 64,515,786 (GRCm39)	Y95C	probably damaging	Het
Cyp2c54	T	C	19: 40,036,005 (GRCm39)	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Mtmr14	A	G	6: 113,246,469 (GRCm39)	S81G	possibly damaging	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Or5k1	A	G	16: 58,617,655 (GRCm39)	Y185H	probably damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina3c	C	A	12: 104,115,690 (GRCm39)	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Stox1	A	G	10: 62,500,721 (GRCm39)	L613P	probably damaging	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	probably benign	Het

Other mutations in Cyp2j6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Cyp2j6	APN	4	96,424,283 (GRCm39)	missense	possibly damaging	0.78
IGL01543:Cyp2j6	APN	4	96,414,161 (GRCm39)	missense	possibly damaging	0.78
IGL02324:Cyp2j6	APN	4	96,414,170 (GRCm39)	missense	probably damaging	0.99
IGL02727:Cyp2j6	APN	4	96,434,001 (GRCm39)	missense	probably benign
IGL02963:Cyp2j6	APN	4	96,406,421 (GRCm39)	missense	probably damaging	1.00
IGL03099:Cyp2j6	APN	4	96,424,328 (GRCm39)	missense	possibly damaging	0.65
R0109:Cyp2j6	UTSW	4	96,406,394 (GRCm39)	missense	probably damaging	0.99
R0109:Cyp2j6	UTSW	4	96,406,394 (GRCm39)	missense	probably damaging	0.99
R0376:Cyp2j6	UTSW	4	96,414,260 (GRCm39)	missense	probably damaging	0.99
R0448:Cyp2j6	UTSW	4	96,433,965 (GRCm39)	missense	probably benign
R0471:Cyp2j6	UTSW	4	96,419,985 (GRCm39)	nonsense	probably null
R0734:Cyp2j6	UTSW	4	96,412,081 (GRCm39)	splice site	probably benign
R1497:Cyp2j6	UTSW	4	96,419,898 (GRCm39)	missense	probably damaging	1.00
R1686:Cyp2j6	UTSW	4	96,412,014 (GRCm39)	missense	probably benign	0.08
R2079:Cyp2j6	UTSW	4	96,419,962 (GRCm39)	missense	possibly damaging	0.87
R2293:Cyp2j6	UTSW	4	96,417,670 (GRCm39)	missense	possibly damaging	0.87
R2350:Cyp2j6	UTSW	4	96,417,645 (GRCm39)	missense	probably damaging	1.00
R2971:Cyp2j6	UTSW	4	96,420,018 (GRCm39)	missense	probably benign	0.06
R3927:Cyp2j6	UTSW	4	96,441,525 (GRCm39)	missense	probably benign	0.15
R4020:Cyp2j6	UTSW	4	96,406,407 (GRCm39)	missense	probably benign	0.03
R5087:Cyp2j6	UTSW	4	96,419,936 (GRCm39)	missense	probably damaging	0.99
R5309:Cyp2j6	UTSW	4	96,423,793 (GRCm39)	missense	probably damaging	1.00
R5861:Cyp2j6	UTSW	4	96,434,040 (GRCm39)	missense	possibly damaging	0.81
R5882:Cyp2j6	UTSW	4	96,423,839 (GRCm39)	missense	probably benign	0.00
R6123:Cyp2j6	UTSW	4	96,406,266 (GRCm39)	makesense	probably null
R6180:Cyp2j6	UTSW	4	96,424,323 (GRCm39)	missense	probably damaging	1.00
R6181:Cyp2j6	UTSW	4	96,424,323 (GRCm39)	missense	probably damaging	1.00
R6185:Cyp2j6	UTSW	4	96,424,323 (GRCm39)	missense	probably damaging	1.00
R6186:Cyp2j6	UTSW	4	96,424,323 (GRCm39)	missense	probably damaging	1.00
R6217:Cyp2j6	UTSW	4	96,406,398 (GRCm39)	missense	probably damaging	1.00
R6784:Cyp2j6	UTSW	4	96,423,741 (GRCm39)	missense	possibly damaging	0.70
R7038:Cyp2j6	UTSW	4	96,423,708 (GRCm39)	missense	probably benign
R7146:Cyp2j6	UTSW	4	96,434,019 (GRCm39)	missense	probably damaging	1.00
R7379:Cyp2j6	UTSW	4	96,414,183 (GRCm39)	missense	probably damaging	0.99
R7470:Cyp2j6	UTSW	4	96,423,708 (GRCm39)	missense	probably benign
R7536:Cyp2j6	UTSW	4	96,423,774 (GRCm39)	missense	probably damaging	1.00
R7789:Cyp2j6	UTSW	4	96,433,953 (GRCm39)	missense	probably benign	0.00
R8321:Cyp2j6	UTSW	4	96,441,684 (GRCm39)	missense	probably benign	0.07
R8836:Cyp2j6	UTSW	4	96,411,983 (GRCm39)	missense	probably damaging	1.00
R8897:Cyp2j6	UTSW	4	96,414,087 (GRCm39)	missense	probably benign	0.23
R9315:Cyp2j6	UTSW	4	96,420,035 (GRCm39)	missense	probably benign	0.05
R9507:Cyp2j6	UTSW	4	96,406,344 (GRCm39)	nonsense	probably null
R9563:Cyp2j6	UTSW	4	96,414,245 (GRCm39)	missense	probably damaging	1.00
R9564:Cyp2j6	UTSW	4	96,414,245 (GRCm39)	missense	probably damaging	1.00
R9565:Cyp2j6	UTSW	4	96,414,245 (GRCm39)	missense	probably damaging	1.00
R9618:Cyp2j6	UTSW	4	96,414,085 (GRCm39)	missense	probably benign	0.36
R9745:Cyp2j6	UTSW	4	96,441,621 (GRCm39)	missense	possibly damaging	0.82
Z1176:Cyp2j6	UTSW	4	96,424,305 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACAACTGGGCTGGGAAC -3'
(R):5'- AATGAAGTCCCACATTGGCC -3'

Sequencing Primer
(F):5'- CTGGGAACATGGCTAGATGCTC -3'
(R):5'- CTTCCTTTCAGGATTGATCT -3'

Posted On

2017-10-10