Incidental Mutation 'R1689:Ephx2'
ID 189596
Institutional Source Beutler Lab
Gene Symbol Ephx2
Ensembl Gene ENSMUSG00000022040
Gene Name epoxide hydrolase 2, cytoplasmic
Synonyms Eph2, sEH, sEP
MMRRC Submission 039722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1689 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 66321823-66361949 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 66324475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 373 (K373*)
Ref Sequence ENSEMBL: ENSMUSP00000152894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070515] [ENSMUST00000224698] [ENSMUST00000225309]
AlphaFold P34914
Predicted Effect probably null
Transcript: ENSMUST00000070515
AA Change: K439*
SMART Domains Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: K439*

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 probably null
Transcript: ENSMUST00000224698
AA Change: K421*
Predicted Effect probably null
Transcript: ENSMUST00000225309
AA Change: K373*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,769,827 (GRCm39) K896R probably benign Het
Adcy9 A T 16: 4,115,426 (GRCm39) probably null Het
Adgre1 T C 17: 57,756,921 (GRCm39) F726S probably benign Het
Ahctf1 A T 1: 179,595,948 (GRCm39) S148T probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Ammecr1l C A 18: 31,913,741 (GRCm39) A289D probably benign Het
Amotl1 T C 9: 14,504,518 (GRCm39) Y230C probably damaging Het
Armc6 A T 8: 70,682,187 (GRCm39) S65R probably benign Het
Atad2b T A 12: 5,084,575 (GRCm39) Y1440* probably null Het
Atf6b T A 17: 34,869,276 (GRCm39) D164E probably damaging Het
B4galt6 C T 18: 20,839,553 (GRCm39) S127N probably benign Het
Bcl11a A T 11: 24,113,167 (GRCm39) Y170F probably damaging Het
Bcl11a A T 11: 24,114,406 (GRCm39) D583V possibly damaging Het
Btnl1 T A 17: 34,600,182 (GRCm39) Y228* probably null Het
Cav2 A G 6: 17,281,421 (GRCm39) H21R probably benign Het
Celsr2 T A 3: 108,314,620 (GRCm39) D1135V possibly damaging Het
Cntnap1 A C 11: 101,079,699 (GRCm39) probably null Het
Cysltr2 T C 14: 73,267,470 (GRCm39) D80G possibly damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkh A T 14: 78,855,984 (GRCm39) M363K possibly damaging Het
Eml5 C T 12: 98,797,194 (GRCm39) V1112M probably damaging Het
Entpd7 A G 19: 43,713,915 (GRCm39) T425A probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbxw10 A T 11: 62,750,862 (GRCm39) I482L probably damaging Het
Fbxw8 T C 5: 118,215,682 (GRCm39) S443G probably damaging Het
Fdft1 T C 14: 63,394,138 (GRCm39) E191G probably benign Het
Fgd2 A G 17: 29,582,696 (GRCm39) E26G probably benign Het
Gabra4 T C 5: 71,790,885 (GRCm39) probably null Het
Gc A G 5: 89,589,059 (GRCm39) probably null Het
Heatr1 T A 13: 12,439,506 (GRCm39) D1361E probably benign Het
Hid1 A G 11: 115,251,183 (GRCm39) F118L probably damaging Het
Igsf8 G T 1: 172,146,504 (GRCm39) G564W probably damaging Het
Il12rb2 A G 6: 67,313,744 (GRCm39) V4A probably benign Het
Irak3 T C 10: 119,982,457 (GRCm39) E335G probably damaging Het
Itgb8 T G 12: 119,134,555 (GRCm39) Q504P probably benign Het
Kbtbd12 A T 6: 88,595,567 (GRCm39) Y88N probably damaging Het
Klk1b5 T C 7: 43,869,969 (GRCm39) I226T probably damaging Het
L3hypdh A T 12: 72,131,527 (GRCm39) I135N probably damaging Het
Lrp2 G T 2: 69,333,873 (GRCm39) T1456K probably benign Het
Mrgprd C A 7: 144,875,454 (GRCm39) Y108* probably null Het
Muc6 C T 7: 141,234,265 (GRCm39) G742D probably damaging Het
Nalcn T A 14: 123,522,666 (GRCm39) I1572F probably damaging Het
Nceh1 A G 3: 27,280,231 (GRCm39) Y126C probably damaging Het
Or14j1 T C 17: 38,146,495 (GRCm39) S202P possibly damaging Het
Or1ak2 A G 2: 36,827,989 (GRCm39) N286S probably damaging Het
Or7d11 A T 9: 19,966,422 (GRCm39) N112K possibly damaging Het
Pacs1 G T 19: 5,322,643 (GRCm39) probably benign Het
Pappa2 A G 1: 158,784,968 (GRCm39) L14P probably damaging Het
Pdlim2 C T 14: 70,408,688 (GRCm39) G176D probably damaging Het
Pramel17 T A 4: 101,694,376 (GRCm39) K169I possibly damaging Het
Ptpra T C 2: 130,345,412 (GRCm39) F5L probably benign Het
Qrfprl A G 6: 65,358,591 (GRCm39) N105S possibly damaging Het
Ralgapa1 A G 12: 55,723,552 (GRCm39) L2114P possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Senp2 T A 16: 21,845,416 (GRCm39) Y217N probably damaging Het
Sned1 C T 1: 93,211,094 (GRCm39) R1061C probably damaging Het
Spag16 C T 1: 70,500,277 (GRCm39) T535I probably benign Het
Supt20 T A 3: 54,619,583 (GRCm39) L355* probably null Het
Tmem132b A G 5: 125,864,678 (GRCm39) H928R possibly damaging Het
Tpo A T 12: 30,148,245 (GRCm39) L552H probably damaging Het
Tsfm A T 10: 126,864,324 (GRCm39) N130K probably damaging Het
Usp48 T A 4: 137,383,418 (GRCm39) probably null Het
Vsig10 A G 5: 117,490,825 (GRCm39) D544G probably benign Het
Vsig10l C T 7: 43,114,792 (GRCm39) T433I possibly damaging Het
Wdr81 A G 11: 75,336,422 (GRCm39) F1655L probably damaging Het
Wfdc3 T A 2: 164,576,111 (GRCm39) D60V 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
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'- GGCATTCGATCACAGACAGGTCAC -3'
(R):5'- AGGAGCACTAGCTTGCTCTCCTAC -3'

Sequencing Primer
(F):5'- TGGAGAACTACCTCCATGCTC -3'
(R):5'- CTTCAGGAGACAACATGGCTTTC -3'
Posted On 2014-05-14