Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Ephx2'

568772

Institutional Source

Beutler Lab

Gene Symbol

Ephx2

Ensembl Gene

ENSMUSG00000022040

Gene Name

epoxide hydrolase 2, cytoplasmic

Synonyms

Eph2, sEH, sEP

MMRRC Submission

045418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66321823-66361949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66322803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 490 (V490A)

Ref Sequence

ENSEMBL: ENSMUSP00000069209 (fasta)

Gene Model

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

AlphaFold

P34914

PDB Structure

CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE. [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CPU INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CIU INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CDU INHIBITOR [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070515
AA Change: V490A

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

SMART Domains

Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: V490A

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: V472A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225309
AA Change: V424A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly 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
R0762:Ephx2	UTSW	14	66,339,628 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCACAGTAGAGACCGTCTG -3'
(R):5'- ACCATCTCTGAGGAGCTTGG -3'

Sequencing Primer
(F):5'- GGAGGACCCTTTTATTACTCAGGAC -3'
(R):5'- CATCTCTGAGGAGCTTGGTGGAG -3'

Posted On

2019-09-13