Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Cyp2j6'

732027

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j6

Ensembl Gene

ENSMUSG00000052914

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96404375-96441898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96441621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 23 (V23E)

Ref Sequence

ENSEMBL: ENSMUSP00000030303 (fasta)

Gene Model

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

AlphaFold

O54750

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030303
AA Change: V23E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: V23E

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: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	possibly 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
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
Z1176:Cyp2j6	UTSW	4	96,424,305 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTCCCCTGTTCCTGTAGC -3'
(R):5'- TTTGTCACTTCCTGCGAGAG -3'

Sequencing Primer
(F):5'- CTGTAGCTCAGGATTAAGTCAGGAC -3'
(R):5'- TCCAGGGAGGAAACCAGAG -3'

Posted On

2022-11-14