Mutagenetix > Incidental Mutation

Incidental Mutation 'R7536:Cyp2j6'

583581

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j6

Ensembl Gene

ENSMUSG00000052914

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 6

Synonyms

MMRRC Submission

045608-MU

Accession Numbers

Essential gene?

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

Stock #

R7536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96404375-96441898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96423774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 198 (G198V)

Ref Sequence

ENSEMBL: ENSMUSP00000030303 (fasta)

Gene Model

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

AlphaFold

O54750

Predicted Effect

probably damaging
Transcript: ENSMUST00000030303
AA Change: G198V

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

SMART Domains

Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: G198V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
AI597479	C	G	1: 43,150,505 (GRCm39)	A205G	possibly damaging	Het
Akr1c14	T	A	13: 4,113,690 (GRCm39)	V74E	probably damaging	Het
Armh4	G	T	14: 50,011,703 (GRCm39)		probably null	Het
Bbs9	A	T	9: 22,582,096 (GRCm39)	Q596L	probably damaging	Het
Bub3	A	G	7: 131,170,432 (GRCm39)	D318G	probably damaging	Het
Cela1	A	G	15: 100,573,245 (GRCm39)	V248A	probably damaging	Het
Cer1	C	A	4: 82,803,205 (GRCm39)	R39L	probably benign	Het
Clec16a	A	G	16: 10,456,708 (GRCm39)	T624A	possibly damaging	Het
Coro1c	C	A	5: 113,983,350 (GRCm39)	G393W	probably damaging	Het
Crym	A	G	7: 119,800,331 (GRCm39)	L97P	probably damaging	Het
Cyp2a5	T	G	7: 26,539,903 (GRCm39)	L317R	probably damaging	Het
Dnajb6	A	G	5: 29,962,804 (GRCm39)	E238G	possibly damaging	Het
Dnhd1	C	A	7: 105,358,768 (GRCm39)	T3419K	probably damaging	Het
Dpep3	A	T	8: 106,704,032 (GRCm39)	I262K	probably damaging	Het
Dscam	T	G	16: 96,442,226 (GRCm39)		probably null	Het
Farsb	A	G	1: 78,420,391 (GRCm39)	V500A	possibly damaging	Het
Fbxl20	A	T	11: 97,986,209 (GRCm39)	C136*	probably null	Het
Fbxo43	G	T	15: 36,161,997 (GRCm39)	D403E	probably benign	Het
Frem1	A	G	4: 82,874,432 (GRCm39)	S1397P	probably damaging	Het
Fut8	A	G	12: 77,521,852 (GRCm39)	Y497C	probably damaging	Het
Gbp3	A	T	3: 142,272,156 (GRCm39)	R219S	probably damaging	Het
Gm14295	T	A	2: 176,502,722 (GRCm39)	H737Q	possibly damaging	Het
Gpr89	C	A	3: 96,798,209 (GRCm39)	R149L	probably damaging	Het
Greb1	A	T	12: 16,732,186 (GRCm39)	Y1592N	probably damaging	Het
Gria4	A	C	9: 4,464,298 (GRCm39)	Y555D	probably damaging	Het
Hspa1b	T	A	17: 35,177,851 (GRCm39)	T45S	possibly damaging	Het
Kif5b	A	T	18: 6,216,235 (GRCm39)	N571K	probably benign	Het
Mapkbp1	T	A	2: 119,849,066 (GRCm39)	M694K	probably damaging	Het
Med24	G	A	11: 98,603,447 (GRCm39)	H439Y	possibly damaging	Het
Mgl2	G	T	11: 70,027,833 (GRCm39)	R347L	probably benign	Het
Mms22l	T	A	4: 24,581,240 (GRCm39)	L850Q	probably damaging	Het
Mrpl51	T	C	6: 125,169,530 (GRCm39)	V44A	possibly damaging	Het
Mylk3	T	C	8: 86,080,233 (GRCm39)	I485V	probably benign	Het
Or10ag54	C	T	2: 87,099,943 (GRCm39)	Q273*	probably null	Het
Or7e174	C	A	9: 20,012,826 (GRCm39)	T257K	probably damaging	Het
Pde4dip	A	G	3: 97,664,560 (GRCm39)	L434P	probably damaging	Het
Pla2g4a	T	C	1: 149,755,768 (GRCm39)	Y223C	probably damaging	Het
Plcl1	C	T	1: 55,752,640 (GRCm39)	Q995*	probably null	Het
Pls1	C	T	9: 95,644,110 (GRCm39)	C462Y	probably damaging	Het
Ppp6r3	T	C	19: 3,557,341 (GRCm39)	E249G	possibly damaging	Het
Prb1a	T	A	6: 132,184,184 (GRCm39)	N483I	unknown	Het
R3hdm1	A	G	1: 128,109,948 (GRCm39)		probably null	Het
Rasgrp3	T	C	17: 75,821,128 (GRCm39)	F445S	probably damaging	Het
Rnf39	G	T	17: 37,254,009 (GRCm39)	L10F	probably damaging	Het
Rnh1	T	C	7: 140,740,725 (GRCm39)	D410G	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bp2	A	G	5: 34,700,901 (GRCm39)	T35A	probably benign	Het
Skint6	T	A	4: 112,668,744 (GRCm39)		probably null	Het
Slc13a1	A	T	6: 24,100,330 (GRCm39)	D384E	probably damaging	Het
Slc27a6	A	G	18: 58,689,698 (GRCm39)	T55A	probably damaging	Het
Slc46a2	G	A	4: 59,914,141 (GRCm39)	Q261*	probably null	Het
Spata31d1e	C	T	13: 59,889,556 (GRCm39)	V755M	probably damaging	Het
St7	C	G	6: 17,886,019 (GRCm39)	P327R	probably damaging	Het
Stx1a	T	C	5: 135,078,694 (GRCm39)	I268T	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tmem145	T	C	7: 25,007,294 (GRCm39)	S171P	probably damaging	Het
Traf2	A	G	2: 25,427,118 (GRCm39)	Y78H	possibly damaging	Het
Tsc22d1	A	G	14: 76,742,203 (GRCm39)	Y16C	probably benign	Het
Ttc39b	A	T	4: 83,158,215 (GRCm39)	Y503*	probably null	Het
Ttn	T	C	2: 76,547,681 (GRCm39)	D32163G	probably benign	Het
Uba6	A	T	5: 86,272,191 (GRCm39)	S833T	probably benign	Het
Wdtc1	A	G	4: 133,022,561 (GRCm39)	L595P	probably damaging	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
R6182: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
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'- AAGAGCCCAGCAGTTACATATG -3'
(R):5'- CAGGGCCTCTTACATGTGTATTTC -3'

Sequencing Primer
(F):5'- GCCCTACCCTTCAAAGAT -3'
(R):5'- CCTCTTACATGTGTATTTCTGGAATG -3'

Posted On

2019-10-17