Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Cyp2j6'

39430

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j6

Ensembl Gene

ENSMUSG00000052914

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 6

Synonyms

MMRRC Submission

038648-MU

Accession Numbers

Essential gene?

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

Stock #

R0448 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

96404375-96441898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96433965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 115 (V115A)

Ref Sequence

ENSEMBL: ENSMUSP00000030303 (fasta)

Gene Model

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

AlphaFold

O54750

Predicted Effect

probably benign
Transcript: ENSMUST00000030303
AA Change: V115A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: V115A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Adam9	A	G	8: 25,454,926 (GRCm39)	S732P	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nfatc4	T	G	14: 56,069,111 (GRCm39)	D625E	possibly damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Or4k45	T	A	2: 111,395,559 (GRCm39)	I77F	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rcbtb2	T	C	14: 73,415,869 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,536,405 (GRCm39)	N134S	probably benign	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,024,811 (GRCm39)	F462S	probably damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	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
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
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'- TGTAACCTCACACTTCCTAAAAGATGGC -3'
(R):5'- TCTCAGGGATGCAGTGGGTGAC -3'

Sequencing Primer
(F):5'- TCACACTTCCTAAAAGATGGCAATTC -3'
(R):5'- ACAAGGCTCTCTTCATAGTGTCAG -3'

Posted On

2013-05-23