Incidental Mutation 'R5130:Ephx2'
ID 394971
Institutional Source Beutler Lab
Gene Symbol Ephx2
Ensembl Gene ENSMUSG00000022040
Gene Name epoxide hydrolase 2, cytoplasmic
Synonyms Eph2, sEH, sEP
MMRRC Submission 042718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5130 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 66321823-66361949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66345511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 151 (I151K)
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: I151K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: I151K

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000224698
AA Change: I133K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000225309
AA Change: I85K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.8948 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 96% (51/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T C 1: 161,780,184 (GRCm39) N110S possibly damaging Het
Acss3 T C 10: 106,840,586 (GRCm39) I392V possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arhgef11 A G 3: 87,633,321 (GRCm39) H696R possibly damaging Het
Baiap3 G T 17: 25,464,316 (GRCm39) D847E probably benign Het
Cdc27 T C 11: 104,425,600 (GRCm39) K72R probably benign Het
Cry2 T C 2: 92,254,944 (GRCm39) E137G probably benign Het
Dhodh A T 8: 110,322,388 (GRCm39) L237Q possibly damaging Het
Dscam A T 16: 96,620,979 (GRCm39) N576K probably benign Het
Eng A G 2: 32,571,518 (GRCm39) N636S probably damaging Het
Fahd1 A G 17: 25,068,733 (GRCm39) C115R probably damaging Het
Fer1l4 T A 2: 155,891,386 (GRCm39) I143F possibly damaging Het
Iqgap3 C A 3: 88,016,161 (GRCm39) N981K probably damaging Het
Kcna5 T C 6: 126,511,496 (GRCm39) I211V probably benign Het
Mcm9 A T 10: 53,506,495 (GRCm39) V14E possibly damaging Het
Mlh1 A G 9: 111,058,906 (GRCm39) probably null Het
Mylk A G 16: 34,809,367 (GRCm39) K1775E probably damaging Het
Myo18b T C 5: 113,021,769 (GRCm39) D541G probably benign Het
Ncapd2 A T 6: 125,146,887 (GRCm39) M1233K possibly damaging Het
Nf2 A T 11: 4,779,862 (GRCm39) probably benign Het
Nova2 C T 7: 18,660,069 (GRCm39) T22I unknown Het
Or3a1d A T 11: 74,237,993 (GRCm39) M19K probably damaging Het
Or7g28 T A 9: 19,272,369 (GRCm39) Y94F possibly damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcdha2 A T 18: 37,073,722 (GRCm39) N451I probably damaging Het
Pcdhb12 T A 18: 37,568,877 (GRCm39) F8I probably benign Het
Pdzph1 A C 17: 59,229,604 (GRCm39) L1018W probably damaging Het
Prdm9 T C 17: 15,764,729 (GRCm39) R684G probably benign Het
Rabep1 T A 11: 70,795,557 (GRCm39) V261E probably damaging Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Samd9l A T 6: 3,374,548 (GRCm39) D904E possibly damaging Het
Siah3 A T 14: 75,763,381 (GRCm39) K211* probably null Het
Slc5a8 T A 10: 88,762,077 (GRCm39) N572K probably benign Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Sowahb T A 5: 93,190,630 (GRCm39) K696N possibly damaging Het
St7l A T 3: 104,803,080 (GRCm39) H330L probably damaging Het
Tnrc6c T A 11: 117,629,176 (GRCm39) probably null Het
Ttc28 G T 5: 111,040,722 (GRCm39) V37F probably benign Het
Uaca C A 9: 60,787,510 (GRCm39) Q1409K probably damaging Het
V1rd19 T A 7: 23,702,537 (GRCm39) M1K probably null Het
Vmn1r225 A G 17: 20,723,047 (GRCm39) R163G possibly damaging Het
Wdr87-ps T C 7: 29,228,699 (GRCm39) noncoding transcript Het
Zc3h3 C A 15: 75,651,139 (GRCm39) V694L probably damaging Het
Zfp442 G T 2: 150,251,530 (GRCm39) T123K possibly damaging Het
Zmym1 A T 4: 126,942,451 (GRCm39) S646T probably 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
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'- GTGTACCCCAGCCTGTAAAC -3'
(R):5'- ATCAGTTAGCAGGAGCCACAG -3'

Sequencing Primer
(F):5'- AGCCTGTAAACTCAATGGTTCC -3'
(R):5'- ATTCTCAGAAGCCCCTTGGAG -3'
Posted On 2016-06-21