Incidental Mutation 'R2106:Or8w1'
ID 230935
Institutional Source Beutler Lab
Gene Symbol Or8w1
Ensembl Gene ENSMUSG00000068818
Gene Name olfactory receptor family 8 subfamily U member 1
Synonyms GA_x6K02T2Q125-49140947-49140021, MOR177-1, Olfr1132
MMRRC Submission 040110-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2106 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87465163-87466089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87465503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 196 (E196G)
Ref Sequence ENSEMBL: ENSMUSP00000149683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090711] [ENSMUST00000213302] [ENSMUST00000216082] [ENSMUST00000216756]
AlphaFold Q8VG97
Predicted Effect probably benign
Transcript: ENSMUST00000090711
AA Change: E196G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088213
Gene: ENSMUSG00000068818
AA Change: E196G

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-45 PFAM
Pfam:7tm_1 41 290 4.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213302
Predicted Effect probably benign
Transcript: ENSMUST00000216082
AA Change: E196G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216756
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,992,837 (GRCm39) F650S probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
Ankrd61 A T 5: 143,828,564 (GRCm39) L95Q probably damaging Het
Atp11a A G 8: 12,885,228 (GRCm39) T22A probably benign Het
Brca1 A G 11: 101,415,803 (GRCm39) V777A possibly damaging Het
Ccdc40 G T 11: 119,155,123 (GRCm39) R1121L probably damaging Het
Cdhr4 A C 9: 107,874,693 (GRCm39) S588R possibly damaging Het
Cfap69 T C 5: 5,645,979 (GRCm39) N517D probably benign Het
Chrm2 T C 6: 36,500,382 (GRCm39) Y80H probably damaging Het
Cimip2a A G 2: 25,110,663 (GRCm39) Y157C probably damaging Het
Csgalnact2 G T 6: 118,086,090 (GRCm39) Y534* probably null Het
Defb35 A G 8: 22,430,809 (GRCm39) E61G unknown Het
Dhx15 A T 5: 52,327,428 (GRCm39) D95E probably benign Het
Dhx57 A G 17: 80,582,792 (GRCm39) V271A probably damaging Het
Dlg1 T C 16: 31,631,574 (GRCm39) S444P probably damaging Het
Edem1 T A 6: 108,825,686 (GRCm39) N406K probably damaging Het
Eif4g3 A T 4: 137,810,230 (GRCm39) probably benign Het
Epb41 A G 4: 131,717,152 (GRCm39) I56T probably damaging Het
Epg5 T A 18: 78,034,578 (GRCm39) Y1442* probably null Het
Fat2 T C 11: 55,147,390 (GRCm39) T3951A probably benign Het
Fryl A G 5: 73,255,674 (GRCm39) S786P probably damaging Het
Fyb2 A G 4: 104,802,769 (GRCm39) T224A probably benign Het
Ginm1 A T 10: 7,651,090 (GRCm39) F105L probably damaging Het
Heatr1 T C 13: 12,426,939 (GRCm39) V688A probably benign Het
Hnmt T G 2: 23,909,130 (GRCm39) Q94H probably benign Het
Ice1 A G 13: 70,753,741 (GRCm39) Y782H probably benign Het
Immt T C 6: 71,848,499 (GRCm39) V418A possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krt84 T C 15: 101,439,301 (GRCm39) N248D probably damaging Het
Lig1 C A 7: 13,039,863 (GRCm39) R692S probably damaging Het
Lvrn G T 18: 47,011,356 (GRCm39) A438S probably damaging Het
Mast4 C T 13: 102,887,054 (GRCm39) V1204I probably damaging Het
Med21 G T 6: 146,550,710 (GRCm39) D74Y probably damaging Het
Nat8 T C 6: 85,807,506 (GRCm39) D209G probably benign Het
Nipal1 C A 5: 72,820,902 (GRCm39) F132L probably damaging Het
Npr2 A T 4: 43,644,329 (GRCm39) I613F probably damaging Het
Nrcam A G 12: 44,617,073 (GRCm39) T706A probably benign Het
Or5w1b A G 2: 87,475,895 (GRCm39) S191P probably damaging Het
Pam A G 1: 97,759,215 (GRCm39) V823A probably damaging Het
Pdik1l A T 4: 134,011,565 (GRCm39) Y93N probably damaging Het
Perm1 T C 4: 156,303,336 (GRCm39) W627R probably damaging Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Prmt5 T C 14: 54,745,374 (GRCm39) I598V probably benign Het
Rab11fip5 T C 6: 85,351,369 (GRCm39) I48V probably damaging Het
Rad51d T A 11: 82,770,134 (GRCm39) K261N probably damaging Het
Rapgef6 T G 11: 54,559,512 (GRCm39) I1050S probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr3 T C 2: 112,468,474 (GRCm39) E4688G probably damaging Het
Siva1 G T 12: 112,613,440 (GRCm39) R96L probably damaging Het
Slc13a4 T C 6: 35,264,799 (GRCm39) N140S probably damaging Het
Slc26a5 T A 5: 22,028,542 (GRCm39) D342V probably damaging Het
Slfn9 A G 11: 82,878,506 (GRCm39) S208P possibly damaging Het
Sspo C A 6: 48,443,250 (GRCm39) T1899N possibly damaging Het
Sytl1 T C 4: 132,984,774 (GRCm39) D200G probably benign Het
Tas2r118 T C 6: 23,969,569 (GRCm39) N164S probably benign Het
Tbc1d17 A G 7: 44,497,692 (GRCm39) probably null Het
Tex14 T C 11: 87,377,076 (GRCm39) M140T possibly damaging Het
Tm6sf2 T C 8: 70,532,396 (GRCm39) F352S probably benign Het
Tmem88 A G 11: 69,288,685 (GRCm39) L78P probably benign Het
Trafd1 A G 5: 121,511,274 (GRCm39) S515P probably benign Het
Trpm6 A T 19: 18,790,714 (GRCm39) E583V possibly damaging Het
Ttc23l A G 15: 10,547,342 (GRCm39) C91R probably damaging Het
Ubap1l T C 9: 65,281,089 (GRCm39) S256P probably benign Het
Vmn1r26 T G 6: 57,985,710 (GRCm39) S160R possibly damaging Het
Vmn2r97 A G 17: 19,168,100 (GRCm39) S785G probably damaging Het
Wdr27 T G 17: 15,141,116 (GRCm39) R278S probably benign Het
Wdr7 T C 18: 63,911,109 (GRCm39) S834P probably damaging Het
Zdhhc12 C T 2: 29,981,814 (GRCm39) C116Y probably damaging Het
Zfp946 T C 17: 22,672,466 (GRCm39) F22L probably benign Het
Zfp948 G T 17: 21,807,953 (GRCm39) E382* probably null Het
Zfp956 T A 6: 47,941,359 (GRCm39) *573K probably null Het
Zim1 T G 7: 6,681,073 (GRCm39) T197P probably benign Het
Other mutations in Or8w1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Or8w1 APN 2 87,465,728 (GRCm39) missense probably damaging 1.00
IGL01780:Or8w1 APN 2 87,465,424 (GRCm39) missense possibly damaging 0.56
R1235:Or8w1 UTSW 2 87,465,159 (GRCm39) splice site probably null
R1471:Or8w1 UTSW 2 87,466,014 (GRCm39) missense probably benign
R3711:Or8w1 UTSW 2 87,466,025 (GRCm39) missense probably benign
R4024:Or8w1 UTSW 2 87,465,499 (GRCm39) missense probably damaging 0.97
R4522:Or8w1 UTSW 2 87,465,495 (GRCm39) missense probably benign
R6531:Or8w1 UTSW 2 87,465,873 (GRCm39) missense probably damaging 1.00
R7768:Or8w1 UTSW 2 87,465,657 (GRCm39) missense probably benign
R8036:Or8w1 UTSW 2 87,465,847 (GRCm39) missense probably benign 0.36
R8158:Or8w1 UTSW 2 87,465,233 (GRCm39) missense probably damaging 1.00
R9026:Or8w1 UTSW 2 87,465,369 (GRCm39) missense probably damaging 1.00
R9136:Or8w1 UTSW 2 87,465,341 (GRCm39) missense probably benign 0.32
R9428:Or8w1 UTSW 2 87,465,774 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTGGCCGGAAATACATGAAG -3'
(R):5'- GCTCTACACAGTGAACATGTCC -3'

Sequencing Primer
(F):5'- GAGCATAGTCCCCTGGAATACTG -3'
(R):5'- AGTGAACATGTCCAGCCG -3'
Posted On 2014-09-18