Mutagenetix > Incidental Mutation

Incidental Mutation 'R7154:Cyp2e1'

557144

Institutional Source

Beutler Lab

Gene Symbol

Cyp2e1

Ensembl Gene

ENSMUSG00000025479

Gene Name

cytochrome P450, family 2, subfamily e, polypeptide 1

Synonyms

Cyp2e

MMRRC Submission

045256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140343732-140354903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140350050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 245 (Y245C)

Ref Sequence

ENSEMBL: ENSMUSP00000026552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000209253] [ENSMUST00000210235]

AlphaFold

Q05421

Predicted Effect

probably damaging
Transcript: ENSMUST00000026552
AA Change: Y245C

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

SMART Domains

Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: Y245C

Domain	Start	End	E-Value	Type
transmembrane domain	2	23	N/A	INTRINSIC
Pfam:p450	33	489	1.4e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209253

Predicted Effect

probably benign
Transcript: ENSMUST00000210235

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

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 induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered responses to xenobiotics including decreased urethane-induced tumors and allylnitrile- or acetamenophen-associated mortality but increased allylnitrile-induced vestibular function loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Adgre1	G	A	17: 57,751,087 (GRCm39)		probably null	Het
Agap2	A	G	10: 126,927,524 (GRCm39)	D1135G	probably benign	Het
Akp3	T	C	1: 87,052,946 (GRCm39)	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,220,905 (GRCm39)	W71R	probably damaging	Het
Asic3	G	A	5: 24,618,660 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,630,930 (GRCm39)	N139K	possibly damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
Auts2	A	T	5: 131,480,731 (GRCm39)	S255T		Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cacnb1	A	G	11: 97,895,959 (GRCm39)	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 123,364,883 (GRCm39)	Q300*	probably null	Het
Ccer1	A	T	10: 97,530,201 (GRCm39)	D288V	unknown	Het
Col18a1	G	A	10: 76,908,799 (GRCm39)	P611S	probably benign	Het
Cpa6	T	A	1: 10,407,694 (GRCm39)	D281V	possibly damaging	Het
Cyp4a31	T	C	4: 115,431,963 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,589,966 (GRCm39)		probably null	Het
Entpd1	T	C	19: 40,713,430 (GRCm39)	Y188H	probably damaging	Het
Epb42	T	C	2: 120,863,843 (GRCm39)	D111G	probably benign	Het
Espl1	A	G	15: 102,232,484 (GRCm39)	D2064G	probably damaging	Het
Fat3	A	C	9: 15,908,160 (GRCm39)	V2614G	probably damaging	Het
Fos	A	T	12: 85,520,931 (GRCm39)	M40L	probably benign	Het
Frmd4b	T	A	6: 97,283,707 (GRCm39)	E434V	probably damaging	Het
Galnt6	A	T	15: 100,591,345 (GRCm39)	D586E	probably benign	Het
Gapvd1	T	C	2: 34,615,075 (GRCm39)	K474R	probably damaging	Het
Gimap8	T	A	6: 48,633,122 (GRCm39)	F314I	probably damaging	Het
Gm14393	T	G	2: 174,903,576 (GRCm39)	K110N	probably damaging	Het
Gm4131	C	A	14: 62,718,382 (GRCm39)	A75S	probably damaging	Het
Heatr6	G	A	11: 83,668,067 (GRCm39)	V854I	probably benign	Het
Hic2	T	A	16: 17,076,806 (GRCm39)	M545K	possibly damaging	Het
Ift70b	C	T	2: 75,768,405 (GRCm39)	R116H	possibly damaging	Het
Ip6k1	A	G	9: 107,922,861 (GRCm39)	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,032,527 (GRCm39)		probably null	Het
Kxd1	T	C	8: 70,968,084 (GRCm39)	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,393,682 (GRCm39)	V581G	probably benign	Het
Mex3d	A	T	10: 80,222,584 (GRCm39)	V224E		Het
Mtx2	T	A	2: 74,706,762 (GRCm39)	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,338,468 (GRCm39)		probably null	Het
Myh6	A	G	14: 55,197,764 (GRCm39)	I458T	probably benign	Het
Ndufs6	A	G	13: 73,468,411 (GRCm39)	V96A	possibly damaging	Het
Nemf	A	T	12: 69,363,515 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,349,950 (GRCm39)	S2397G	probably benign	Het
Or4c15b	A	G	2: 89,113,204 (GRCm39)	I91T	probably damaging	Het
Or6ae1	T	C	7: 139,741,997 (GRCm39)	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,901,649 (GRCm39)	E619G	probably benign	Het
Pfkl	T	C	10: 77,837,289 (GRCm39)	R95G	probably benign	Het
Plat	T	A	8: 23,268,521 (GRCm39)	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,862,314 (GRCm39)	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,651,758 (GRCm39)	H578Q	probably benign	Het
Rnf145	C	A	11: 44,415,822 (GRCm39)	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,309,405 (GRCm39)	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,825,748 (GRCm39)	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 126,195,078 (GRCm39)	K887E	probably benign	Het
Spopfm2	A	G	3: 94,083,526 (GRCm39)	I95T	probably benign	Het
Stard9	C	A	2: 120,531,795 (GRCm39)	T2684N	probably benign	Het
Stard9	A	C	2: 120,535,023 (GRCm39)	Q3760P	probably benign	Het
Stpg2	A	G	3: 138,921,056 (GRCm39)	E87G	probably benign	Het
Syne2	A	G	12: 76,106,231 (GRCm39)	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,775,601 (GRCm39)	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,331,156 (GRCm39)	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,810,093 (GRCm39)	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,339,328 (GRCm39)	I215N	possibly damaging	Het
Tpd52	G	A	3: 9,028,916 (GRCm39)	Q43*	probably null	Het
Trpa1	T	A	1: 14,952,457 (GRCm39)	N858I	possibly damaging	Het
Ttll5	A	G	12: 85,972,538 (GRCm39)	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,194,732 (GRCm39)	T62I	probably benign	Het
Wdr59	A	T	8: 112,185,367 (GRCm39)	N874K		Het

Other mutations in Cyp2e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Cyp2e1	APN	7	140,349,066 (GRCm39)	missense	probably benign	0.17
IGL01755:Cyp2e1	APN	7	140,354,469 (GRCm39)	critical splice acceptor site	probably null
IGL01884:Cyp2e1	APN	7	140,353,663 (GRCm39)	missense	probably benign	0.16
IGL01950:Cyp2e1	APN	7	140,344,874 (GRCm39)	critical splice donor site	probably null
IGL01964:Cyp2e1	APN	7	140,343,779 (GRCm39)	missense	probably damaging	1.00
IGL02430:Cyp2e1	APN	7	140,350,139 (GRCm39)	missense	probably damaging	1.00
IGL02505:Cyp2e1	APN	7	140,349,069 (GRCm39)	missense	probably damaging	1.00
IGL02596:Cyp2e1	APN	7	140,350,031 (GRCm39)	missense	probably damaging	0.99
IGL02725:Cyp2e1	APN	7	140,343,828 (GRCm39)	missense	probably null	1.00
IGL02887:Cyp2e1	APN	7	140,343,824 (GRCm39)	missense	probably damaging	1.00
IGL03114:Cyp2e1	APN	7	140,353,042 (GRCm39)	missense	possibly damaging	0.95
IGL03146:Cyp2e1	APN	7	140,350,134 (GRCm39)	missense	probably benign	0.00
IGL03340:Cyp2e1	APN	7	140,344,767 (GRCm39)	missense	probably damaging	1.00
R1396:Cyp2e1	UTSW	7	140,352,992 (GRCm39)	missense	probably damaging	0.98
R2111:Cyp2e1	UTSW	7	140,353,547 (GRCm39)	missense	probably damaging	1.00
R2230:Cyp2e1	UTSW	7	140,344,827 (GRCm39)	missense	probably damaging	1.00
R2231:Cyp2e1	UTSW	7	140,344,827 (GRCm39)	missense	probably damaging	1.00
R2383:Cyp2e1	UTSW	7	140,349,981 (GRCm39)	missense	probably benign	0.06
R3778:Cyp2e1	UTSW	7	140,343,822 (GRCm39)	missense	possibly damaging	0.58
R4082:Cyp2e1	UTSW	7	140,350,991 (GRCm39)	missense	possibly damaging	0.67
R4707:Cyp2e1	UTSW	7	140,343,821 (GRCm39)	missense	possibly damaging	0.58
R4751:Cyp2e1	UTSW	7	140,354,629 (GRCm39)	nonsense	probably null
R4784:Cyp2e1	UTSW	7	140,343,821 (GRCm39)	missense	possibly damaging	0.58
R4792:Cyp2e1	UTSW	7	140,353,588 (GRCm39)	missense	probably benign
R4917:Cyp2e1	UTSW	7	140,354,527 (GRCm39)	missense	possibly damaging	0.94
R4934:Cyp2e1	UTSW	7	140,350,030 (GRCm39)	missense	probably damaging	1.00
R5092:Cyp2e1	UTSW	7	140,354,648 (GRCm39)	missense	probably damaging	1.00
R5388:Cyp2e1	UTSW	7	140,343,906 (GRCm39)	missense	probably damaging	1.00
R5423:Cyp2e1	UTSW	7	140,350,031 (GRCm39)	missense	probably benign	0.01
R6740:Cyp2e1	UTSW	7	140,343,693 (GRCm39)	unclassified	probably benign
R7065:Cyp2e1	UTSW	7	140,343,906 (GRCm39)	missense	probably damaging	1.00
R8054:Cyp2e1	UTSW	7	140,350,871 (GRCm39)	missense	possibly damaging	0.80
R9130:Cyp2e1	UTSW	7	140,353,022 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGACTTGGAGAACAGCACTCTC -3'
(R):5'- GATGCAACTGTGGTGCTCAG -3'

Sequencing Primer
(F):5'- TTGGAGAACAGCACTCTCAAAAG -3'
(R):5'- GCGTCAGCACCAGAGATTG -3'

Posted On

2019-06-26