Incidental Mutation 'R8169:Ephx2'
ID 643797
Institutional Source Beutler Lab
Gene Symbol Ephx2
Ensembl Gene ENSMUSG00000022040
Gene Name epoxide hydrolase 2, cytoplasmic
Synonyms Eph2, sEH, sEP
MMRRC Submission 067595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8169 (G1)
Quality Score 108.008
Status Validated
Chromosome 14
Chromosomal Location 66321823-66361949 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 66349602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070515]
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 null
Transcript: ENSMUST00000070515
SMART Domains Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (80/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik C A 5: 139,349,812 (GRCm39) G79V probably damaging Het
4930562C15Rik T A 16: 4,684,082 (GRCm39) Y226N probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Bach1 G A 16: 87,519,390 (GRCm39) C560Y possibly damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Casq2 G T 3: 102,017,628 (GRCm39) A103S possibly damaging Het
Cfap100 A G 6: 90,394,656 (GRCm39) F57S Het
Clca3a2 A T 3: 144,783,653 (GRCm39) L654Q probably damaging Het
Cntnap5c T A 17: 58,411,765 (GRCm39) probably null Het
Cplane2 A G 4: 140,945,530 (GRCm39) H127R probably damaging Het
Crtc2 G C 3: 90,170,883 (GRCm39) G652A probably damaging Het
Csnk1g2 A G 10: 80,475,636 (GRCm39) D401G probably damaging Het
Dars1 T C 1: 128,304,002 (GRCm39) N242D probably null Het
Dnah10 T C 5: 124,877,946 (GRCm39) L2677P probably damaging Het
Dnal1 G A 12: 84,171,330 (GRCm39) A3T probably benign Het
Dpep2 C T 8: 106,722,849 (GRCm39) V60I Het
Eeig1 T C 2: 32,453,760 (GRCm39) I203T probably benign Het
Ehmt2 T A 17: 35,122,339 (GRCm39) I302N probably benign Het
Eif3a C T 19: 60,750,628 (GRCm39) R1309Q unknown Het
Eno4 T A 19: 58,935,084 (GRCm39) Y100N probably benign Het
Fbxw14 A T 9: 109,106,284 (GRCm39) I251K probably benign Het
Fcgbp T C 7: 27,784,919 (GRCm39) probably null Het
Foxm1 A C 6: 128,348,671 (GRCm39) probably null Het
Fscn3 T A 6: 28,430,328 (GRCm39) I166N possibly damaging Het
Gdpd4 G T 7: 97,621,335 (GRCm39) V193L probably benign Het
Gnpat T G 8: 125,606,869 (GRCm39) C352G probably benign Het
H2-Q7 T A 17: 35,658,910 (GRCm39) Y120* probably null Het
Klri1 G A 6: 129,694,070 (GRCm39) R6C probably benign Het
Kmo T C 1: 175,476,729 (GRCm39) V154A probably benign Het
Kmt2c A G 5: 25,559,685 (GRCm39) L1031P probably damaging Het
Lrrc14b T G 13: 74,511,286 (GRCm39) T265P possibly damaging Het
Lrrc2 C T 9: 110,809,954 (GRCm39) T330I probably benign Het
Lyn T A 4: 3,783,050 (GRCm39) S428T probably damaging Het
Lypd10 T A 7: 24,412,000 (GRCm39) M60K probably benign Het
Mfsd8 T A 3: 40,791,550 (GRCm39) M59L probably benign Het
Mok T A 12: 110,774,799 (GRCm39) Q341L probably benign Het
Muc21 T C 17: 35,932,072 (GRCm39) T705A unknown Het
Myh3 C A 11: 66,979,856 (GRCm39) N598K probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp4e A G 7: 23,019,931 (GRCm39) I139M probably benign Het
Or11g25 T C 14: 50,723,692 (GRCm39) V259A probably benign Het
Or3a10 T A 11: 73,935,707 (GRCm39) Q131L possibly damaging Het
Or4b13 G A 2: 90,082,442 (GRCm39) R297* probably null Het
Or51g2 A G 7: 102,622,545 (GRCm39) L218P probably damaging Het
Or52n2b A T 7: 104,565,619 (GRCm39) Y295N possibly damaging Het
Osbpl7 G A 11: 96,945,676 (GRCm39) S312N probably damaging Het
Paxip1 A G 5: 27,977,093 (GRCm39) L323P unknown Het
Pcdh18 T A 3: 49,699,684 (GRCm39) H926L probably damaging Het
Pcm1 T G 8: 41,763,153 (GRCm39) S1460R possibly damaging Het
Pdha2 A G 3: 140,917,155 (GRCm39) S118P possibly damaging Het
Pdss1 A T 2: 22,791,824 (GRCm39) Y86F probably benign Het
Ppargc1a A T 5: 51,631,026 (GRCm39) D534E probably benign Het
Prune2 A G 19: 17,102,455 (GRCm39) K2538R probably benign Het
Ptprq A T 10: 107,418,351 (GRCm39) I1675N probably damaging Het
Rgma C T 7: 73,025,630 (GRCm39) P3L probably benign Het
Ros1 A G 10: 51,940,768 (GRCm39) probably null Het
Sema4g C T 19: 44,987,410 (GRCm39) R519W probably damaging Het
Serpinc1 T A 1: 160,820,971 (GRCm39) F139L probably damaging Het
Slc22a29 A G 19: 8,184,696 (GRCm39) I198T probably damaging Het
Slc4a5 T C 6: 83,280,373 (GRCm39) V1007A probably benign Het
Sptbn1 T C 11: 30,147,783 (GRCm39) Y17C possibly damaging Het
Tex261 C A 6: 83,751,999 (GRCm39) probably null Het
Timmdc1 T A 16: 38,331,148 (GRCm39) T128S probably benign Het
Tmem120b C A 5: 123,237,999 (GRCm39) Y96* probably null Het
Tmem196 T A 12: 119,982,311 (GRCm39) F182I possibly damaging Het
Tnxb G A 17: 34,918,181 (GRCm39) V2365M possibly damaging Het
Tph1 T C 7: 46,303,233 (GRCm39) silent Het
Trmt9b A T 8: 36,978,857 (GRCm39) K153N probably damaging Het
Trpc1 G A 9: 95,592,323 (GRCm39) Q551* probably null Het
Tubgcp3 T C 8: 12,666,099 (GRCm39) N828D probably benign Het
Unc13a C A 8: 72,108,933 (GRCm39) G478W probably damaging Het
Usp15 T A 10: 122,961,798 (GRCm39) T627S Het
Vmn1r115 A T 7: 20,578,144 (GRCm39) I256N probably damaging Het
Vmn2r6 T A 3: 64,447,310 (GRCm39) K585N probably benign Het
Vsir G T 10: 60,194,047 (GRCm39) probably null Het
Xirp2 A G 2: 67,343,543 (GRCm39) D1928G probably benign Het
Xylt1 A G 7: 117,249,846 (GRCm39) Y672C probably damaging Het
Yrdc A G 4: 124,744,880 (GRCm39) S105G probably benign Het
Zfc3h1 T A 10: 115,254,616 (GRCm39) N1403K probably damaging Het
Zfp160 A T 17: 21,247,298 (GRCm39) H616L probably damaging Het
Zfp637 T A 6: 117,822,252 (GRCm39) F127I probably damaging Het
Zfp69 G T 4: 120,787,731 (GRCm39) A528D probably damaging Het
Zpr1 T A 9: 46,189,645 (GRCm39) L342Q possibly damaging Het
Other mutations in Ephx2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGAGCCCCTCTTCACGAGA -3'
(R):5'- TGATACTATCTATGACACAGACAGC -3'

Sequencing Primer
(F):5'- CTTCACGAGAAGGCCCTC -3'
(R):5'- GCCTGAAAGGGTTACTTGCTACAC -3'
Posted On 2020-08-19