Incidental Mutation 'R6930:Or7e178'
ID 539954
Institutional Source Beutler Lab
Gene Symbol Or7e178
Ensembl Gene ENSMUSG00000066896
Gene Name olfactory receptor family 7 subfamily E member 178
Synonyms MTPCR34, MOR145-1, Olfr18, GA_x6K02T2PVTD-14054886-14053957
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 20225188-20247390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20225395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 266 (Y266H)
Ref Sequence ENSEMBL: ENSMUSP00000153832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086473] [ENSMUST00000212943]
AlphaFold Q0VAX9
Predicted Effect probably damaging
Transcript: ENSMUST00000086473
AA Change: Y274H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083664
Gene: ENSMUSG00000066896
AA Change: Y274H

DomainStartEndE-ValueType
Pfam:7tm_4 53 330 1.2e-54 PFAM
Pfam:7TM_GPCR_Srsx 57 234 3.2e-9 PFAM
Pfam:7tm_1 63 312 4.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212943
AA Change: Y266H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2654 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,466,563 (GRCm39) D156E probably benign Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Akr1e1 T C 13: 4,652,714 (GRCm39) D41G probably damaging Het
Alcam T C 16: 52,126,018 (GRCm39) I100V probably benign Het
Atr T C 9: 95,748,688 (GRCm39) I411T probably benign Het
Bbs4 T C 9: 59,230,764 (GRCm39) S453G probably benign Het
Brdt C T 5: 107,507,081 (GRCm39) L494F probably benign Het
Ccser1 T C 6: 62,357,009 (GRCm39) S816P probably benign Het
Cdk10 T C 8: 123,957,347 (GRCm39) I157T probably damaging Het
Ceacam5 G A 7: 17,484,759 (GRCm39) probably null Het
Chst15 T C 7: 131,870,759 (GRCm39) I259V possibly damaging Het
Cracdl A T 1: 37,664,026 (GRCm39) I624N possibly damaging Het
Csmd1 A T 8: 16,142,409 (GRCm39) M1498K probably damaging Het
D630045J12Rik T C 6: 38,135,151 (GRCm39) D1343G probably damaging Het
Denr T C 5: 124,046,250 (GRCm39) Y27H probably benign Het
Dop1a T C 9: 86,413,825 (GRCm39) probably null Het
Epg5 T C 18: 78,057,378 (GRCm39) F1819S probably damaging Het
Flg2 T A 3: 93,108,642 (GRCm39) Y223* probably null Het
Fry T C 5: 150,351,695 (GRCm39) L1733P probably benign Het
Gabrb2 T C 11: 42,488,440 (GRCm39) V302A probably damaging Het
Gimap9 G A 6: 48,654,601 (GRCm39) D53N probably damaging Het
Gje1 G T 10: 14,593,886 (GRCm39) L3I possibly damaging Het
Gm49383 G T 12: 69,239,586 (GRCm39) A645E probably damaging Het
Gm8947 G A 1: 151,068,347 (GRCm39) G60D probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gys2 A G 6: 142,405,106 (GRCm39) probably null Het
Hace1 A G 10: 45,494,598 (GRCm39) H136R probably damaging Het
Herc3 T G 6: 58,893,444 (GRCm39) V902G probably damaging Het
Hspbp1 T C 7: 4,687,606 (GRCm39) R2G probably benign Het
Iqch T A 9: 63,387,856 (GRCm39) K811N possibly damaging Het
Kmt2a A G 9: 44,753,962 (GRCm39) probably benign Het
Lonrf2 A T 1: 38,843,417 (GRCm39) V372D probably benign Het
Lpin2 T C 17: 71,551,786 (GRCm39) Y729H probably damaging Het
Lrrc32 A G 7: 98,148,471 (GRCm39) N417S possibly damaging Het
Malrd1 T A 2: 15,802,478 (GRCm39) C1064S unknown Het
Mast3 G A 8: 71,252,115 (GRCm39) R20* probably null Het
Mypn A C 10: 62,952,718 (GRCm39) I174S probably damaging Het
Nrg1 G A 8: 32,308,534 (GRCm39) T505M probably damaging Het
Or13p8 A G 4: 118,584,338 (GRCm39) K298R probably damaging Het
Or6y1 A G 1: 174,276,677 (GRCm39) I163V probably damaging Het
Or7a42 A G 10: 78,791,615 (GRCm39) D192G possibly damaging Het
Phf3 T C 1: 30,850,958 (GRCm39) E1132G probably damaging Het
Pla2g4d A T 2: 120,101,114 (GRCm39) M521K probably damaging Het
Plekhg1 A G 10: 3,913,770 (GRCm39) H1164R possibly damaging Het
Plxnb2 A G 15: 89,044,592 (GRCm39) V1218A probably benign Het
Pold1 A G 7: 44,191,630 (GRCm39) S119P probably benign Het
Pole T A 5: 110,441,156 (GRCm39) D203E probably benign Het
Rapgefl1 T A 11: 98,737,947 (GRCm39) L387Q probably damaging Het
Rbm33 T C 5: 28,557,504 (GRCm39) I199T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 C A 11: 50,289,207 (GRCm39) R545L probably benign Het
Ryr3 T A 2: 112,690,699 (GRCm39) D1117V probably damaging Het
Sap130 T C 18: 31,815,141 (GRCm39) V621A possibly damaging Het
Sparcl1 T A 5: 104,234,940 (GRCm39) Y525F probably damaging Het
Spon2 A G 5: 33,373,771 (GRCm39) V180A probably benign Het
Trav10n G A 14: 53,359,947 (GRCm39) V75M probably benign Het
Ttc34 T C 4: 154,923,543 (GRCm39) L84P probably damaging Het
Vmn1r23 C T 6: 57,903,130 (GRCm39) R216K probably benign Het
Vmn2r61 A G 7: 41,949,364 (GRCm39) T595A probably benign Het
Vmn2r66 T A 7: 84,661,216 (GRCm39) I5F possibly damaging Het
Zfp879 C T 11: 50,723,839 (GRCm39) G406R probably damaging Het
Zic2 A T 14: 122,713,869 (GRCm39) D261V probably damaging Het
Other mutations in Or7e178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Or7e178 APN 9 20,226,015 (GRCm39) missense probably damaging 1.00
IGL02412:Or7e178 APN 9 20,225,935 (GRCm39) missense probably benign
IGL03288:Or7e178 APN 9 20,247,207 (GRCm39) critical splice donor site probably null
IGL03395:Or7e178 APN 9 20,225,847 (GRCm39) missense probably damaging 1.00
R0332:Or7e178 UTSW 9 20,225,352 (GRCm39) missense probably benign 0.00
R0346:Or7e178 UTSW 9 20,225,707 (GRCm39) missense probably benign 0.20
R0569:Or7e178 UTSW 9 20,225,875 (GRCm39) missense probably damaging 1.00
R0798:Or7e178 UTSW 9 20,225,495 (GRCm39) nonsense probably null
R0865:Or7e178 UTSW 9 20,226,045 (GRCm39) missense probably damaging 1.00
R1082:Or7e178 UTSW 9 20,225,765 (GRCm39) missense possibly damaging 0.52
R1905:Or7e178 UTSW 9 20,226,142 (GRCm39) missense probably benign
R4245:Or7e178 UTSW 9 20,225,629 (GRCm39) missense possibly damaging 0.87
R5566:Or7e178 UTSW 9 20,225,265 (GRCm39) missense probably benign
R6306:Or7e178 UTSW 9 20,225,742 (GRCm39) missense probably benign 0.25
R6721:Or7e178 UTSW 9 20,225,576 (GRCm39) missense probably benign 0.24
R6787:Or7e178 UTSW 9 20,247,221 (GRCm39) missense probably benign
R7196:Or7e178 UTSW 9 20,225,494 (GRCm39) missense probably benign 0.38
R7711:Or7e178 UTSW 9 20,225,319 (GRCm39) missense possibly damaging 0.66
R8023:Or7e178 UTSW 9 20,225,545 (GRCm39) missense probably benign 0.00
R8029:Or7e178 UTSW 9 20,225,643 (GRCm39) missense possibly damaging 0.59
R8050:Or7e178 UTSW 9 20,225,941 (GRCm39) missense probably damaging 1.00
R8058:Or7e178 UTSW 9 20,225,476 (GRCm39) missense probably damaging 0.99
R8159:Or7e178 UTSW 9 20,226,015 (GRCm39) missense possibly damaging 0.96
R8201:Or7e178 UTSW 9 20,225,908 (GRCm39) missense probably benign 0.10
R9022:Or7e178 UTSW 9 20,225,268 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTCTGAGGAGCCGCCAC -3'
(R):5'- TGAACCCTCGTCTTTGTGGC -3'

Sequencing Primer
(F):5'- ACATGGCCCTCTTTATGTCCTGG -3'
(R):5'- GTCTCTCAGCTGCATAATTCAGTAG -3'
Posted On 2018-11-06