Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Ephx2'

72476

Institutional Source

Beutler Lab

Gene Symbol

Ephx2

Ensembl Gene

ENSMUSG00000022040

Gene Name

epoxide hydrolase 2, cytoplasmic

Synonyms

Eph2, sEH, sEP

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66321823-66361949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66339628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 199 (F199I)

Ref Sequence

ENSEMBL: ENSMUSP00000152894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070515] [ENSMUST00000224698] [ENSMUST00000225309]

AlphaFold

P34914

Predicted Effect

probably damaging
Transcript: ENSMUST00000070515
AA Change: F265I

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

SMART Domains

Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: F265I

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	3	197	1.2e-8	PFAM
Pfam:HAD_2	6	203	2.5e-17	PFAM
Pfam:Hydrolase_4	256	529	6.6e-11	PFAM
Pfam:Abhydrolase_1	257	530	7.2e-38	PFAM
Pfam:Abhydrolase_5	258	524	3.5e-14	PFAM
Pfam:Abhydrolase_6	259	536	2.7e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224698
AA Change: F247I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225309
AA Change: F199I

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

Meta Mutation Damage Score

0.9290

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

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 epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Males homozygous for a targeted null mutation display a significant reduction in blood pressure both in the absence and presence of dietary salt loading. Both sexes exhibit altered arachidonic acid metabolism and reduced renal formation of epoxyeicosatrienoic and dihydroxyeicosatrienoic acids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dcc	T	A	18: 71,475,776 (GRCm39)		probably benign	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Gars1	T	G	6: 55,054,565 (GRCm39)		probably null	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Krt77	T	C	15: 101,769,561 (GRCm39)		probably null	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Plbd1	C	T	6: 136,618,145 (GRCm39)	V24M	probably damaging	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tfb2m	T	C	1: 179,373,398 (GRCm39)	E100G	probably damaging	Het
Tom1	C	T	8: 75,778,934 (GRCm39)		probably benign	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Ephx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ephx2	APN	14	66,330,286 (GRCm39)	missense	probably benign
IGL01143:Ephx2	APN	14	66,326,971 (GRCm39)	missense	probably damaging	1.00
IGL02058:Ephx2	APN	14	66,341,173 (GRCm39)	critical splice donor site	probably null
IGL02164:Ephx2	APN	14	66,341,169 (GRCm39)	splice site	probably benign
IGL02606:Ephx2	APN	14	66,323,741 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Ephx2	UTSW	14	66,339,671 (GRCm39)	missense	probably damaging	0.99
R0396:Ephx2	UTSW	14	66,345,512 (GRCm39)	missense	probably benign	0.03
R0732:Ephx2	UTSW	14	66,324,412 (GRCm39)	critical splice donor site	probably null
R1444:Ephx2	UTSW	14	66,344,769 (GRCm39)	missense	probably damaging	1.00
R1689:Ephx2	UTSW	14	66,324,475 (GRCm39)	nonsense	probably null
R1735:Ephx2	UTSW	14	66,325,752 (GRCm39)	missense	probably benign
R1871:Ephx2	UTSW	14	66,322,183 (GRCm39)	missense	probably damaging	1.00
R4210:Ephx2	UTSW	14	66,322,393 (GRCm39)	missense	probably damaging	1.00
R5130:Ephx2	UTSW	14	66,345,511 (GRCm39)	missense	probably damaging	0.97
R5800:Ephx2	UTSW	14	66,344,751 (GRCm39)	missense	probably benign	0.38
R6013:Ephx2	UTSW	14	66,347,691 (GRCm39)	missense	probably benign	0.19
R6076:Ephx2	UTSW	14	66,330,297 (GRCm39)	missense	probably damaging	1.00
R6193:Ephx2	UTSW	14	66,349,669 (GRCm39)	missense	probably benign	0.12
R6193:Ephx2	UTSW	14	66,326,961 (GRCm39)	missense	probably benign	0.01
R7324:Ephx2	UTSW	14	66,322,803 (GRCm39)	missense	probably damaging	1.00
R7390:Ephx2	UTSW	14	66,347,904 (GRCm39)
R7504:Ephx2	UTSW	14	66,339,066 (GRCm39)	missense	probably damaging	0.99
R7759:Ephx2	UTSW	14	66,326,968 (GRCm39)	missense	possibly damaging	0.67
R7814:Ephx2	UTSW	14	66,347,678 (GRCm39)	missense	probably benign	0.09
R7863:Ephx2	UTSW	14	66,344,692 (GRCm39)	nonsense	probably null
R8003:Ephx2	UTSW	14	66,361,782 (GRCm39)	critical splice donor site	probably null
R8157:Ephx2	UTSW	14	66,345,506 (GRCm39)	missense	probably damaging	1.00
R8169:Ephx2	UTSW	14	66,349,602 (GRCm39)	splice site	probably null
R8804:Ephx2	UTSW	14	66,324,469 (GRCm39)	missense	probably benign	0.02
R8817:Ephx2	UTSW	14	66,344,725 (GRCm39)	missense	probably benign	0.10
R8931:Ephx2	UTSW	14	66,322,441 (GRCm39)	splice site	probably benign
R9072:Ephx2	UTSW	14	66,323,688 (GRCm39)	nonsense	probably null
R9073:Ephx2	UTSW	14	66,323,688 (GRCm39)	nonsense	probably null
R9647:Ephx2	UTSW	14	66,326,957 (GRCm39)	missense	probably benign
RF023:Ephx2	UTSW	14	66,322,378 (GRCm39)	critical splice donor site	probably null
Z1088:Ephx2	UTSW	14	66,344,767 (GRCm39)	missense	probably benign	0.00
Z1177:Ephx2	UTSW	14	66,322,774 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGGAGCACACTGAGCAGAAC -3'
(R):5'- TGCAATGGCTGTGGAATGTTACCTG -3'

Sequencing Primer
(F):5'- ACATCTAGTCTGACAAGCTGCTG -3'
(R):5'- ATGTTACCTGTCTAAGGAAGCCC -3'

Posted On

2013-09-30