Mutagenetix > Incidental Mutation

Incidental Mutation 'R2293:Cyp2j6'

245070

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j6

Ensembl Gene

ENSMUSG00000052914

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 6

Synonyms

MMRRC Submission

040292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R2293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96404375-96441898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96417670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 318 (T318S)

Ref Sequence

ENSEMBL: ENSMUSP00000030303 (fasta)

Gene Model

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

AlphaFold

O54750

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030303
AA Change: T318S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: T318S

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,428 (GRCm39)	N640S	probably benign	Het
Aox4	T	A	1: 58,261,096 (GRCm39)	I143N	probably damaging	Het
Arhgef11	C	T	3: 87,635,297 (GRCm39)	R869C	probably damaging	Het
Bcl6	T	C	16: 23,796,359 (GRCm39)	N23D	probably damaging	Het
Brca2	T	A	5: 150,483,999 (GRCm39)	F2939L	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Dlg5	A	C	14: 24,208,180 (GRCm39)	S1009A	probably benign	Het
Dlx6	A	G	6: 6,867,246 (GRCm39)	Y283C	probably damaging	Het
Dnah10	T	C	5: 124,896,285 (GRCm39)	Y3550H	probably damaging	Het
Dock7	T	C	4: 98,854,606 (GRCm39)	S1553G	probably damaging	Het
Ice1	C	A	13: 70,763,076 (GRCm39)	D193Y	probably damaging	Het
Mdga2	A	T	12: 66,615,759 (GRCm39)	L547*	probably null	Het
Mgat4a	C	A	1: 37,491,673 (GRCm39)	R215L	probably damaging	Het
Msantd2	A	G	9: 37,401,100 (GRCm39)	T69A	probably damaging	Het
Muc5ac	A	G	7: 141,360,936 (GRCm39)	T1416A	probably damaging	Het
Nup214	T	C	2: 31,916,887 (GRCm39)	S1181P	probably benign	Het
Pip5k1c	A	G	10: 81,149,918 (GRCm39)	E42G	possibly damaging	Het
Slc12a5	A	G	2: 164,834,250 (GRCm39)	E757G	probably benign	Het
Slc16a14	A	T	1: 84,890,564 (GRCm39)	M247K	probably benign	Het
Slc35b2	T	A	17: 45,878,067 (GRCm39)	V398E	probably damaging	Het
Slc44a5	C	A	3: 153,945,934 (GRCm39)	L156I	probably benign	Het
Trmt11	G	C	10: 30,423,744 (GRCm39)	P387R	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
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
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'- TGCAGAAGACATTCCCATTCCC -3'
(R):5'- TCATTGTGTCCTGAGGAGATTAAAG -3'

Sequencing Primer
(F):5'- TTCCCATTCCCAAGTACACACTG -3'
(R):5'- TGTGTCCTGAGGAGATTAAAGATAAC -3'

Posted On

2014-10-30