Incidental Mutation 'R6531:Or8w1'
ID 522318
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 044657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6531 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87465163-87466089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87465873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 73 (Y73H)
Ref Sequence ENSEMBL: ENSMUSP00000149683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090711] [ENSMUST00000216082]
AlphaFold Q8VG97
Predicted Effect probably damaging
Transcript: ENSMUST00000090711
AA Change: Y73H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088213
Gene: ENSMUSG00000068818
AA Change: Y73H

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-45 PFAM
Pfam:7tm_1 41 290 4.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118805
Predicted Effect probably damaging
Transcript: ENSMUST00000216082
AA Change: Y73H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3513 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.6%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,926,980 (GRCm39) E880G possibly damaging Het
Acsbg2 T A 17: 57,153,617 (GRCm39) I529F probably damaging Het
Ahcyl2 T G 6: 29,886,161 (GRCm39) M359R probably benign Het
Aldh5a1 G T 13: 25,102,547 (GRCm39) D305E probably benign Het
Catsper2 C G 2: 121,230,261 (GRCm39) V358L possibly damaging Het
Cd200r4 C T 16: 44,653,868 (GRCm39) Q222* probably null Het
Col4a2 T A 8: 11,458,135 (GRCm39) D270E probably benign Het
Cux1 T C 5: 136,303,973 (GRCm39) D1401G probably benign Het
Cyp3a59 T A 5: 146,035,027 (GRCm39) M235K probably benign Het
Dock3 T C 9: 106,844,415 (GRCm39) D895G probably benign Het
Dync1h1 T C 12: 110,584,354 (GRCm39) F586L probably damaging Het
Elmo1 G T 13: 20,756,616 (GRCm39) R568L possibly damaging Het
Epb41 T C 4: 131,684,947 (GRCm39) T711A probably benign Het
Grm7 T A 6: 111,335,386 (GRCm39) M599K probably benign Het
Hivep3 A T 4: 119,980,073 (GRCm39) K1704* probably null Het
Ighv1-62-3 C A 12: 115,424,626 (GRCm39) C115F probably damaging Het
Krt78 A G 15: 101,860,708 (GRCm39) Y200H probably benign Het
Lamb2 A T 9: 108,360,925 (GRCm39) H549L possibly damaging Het
Mroh3 A G 1: 136,112,091 (GRCm39) I759T probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nol6 G T 4: 41,118,154 (GRCm39) P828T probably benign Het
Or1j15 G A 2: 36,459,353 (GRCm39) V248I probably damaging Het
Or4c3 A G 2: 89,851,801 (GRCm39) V203A probably benign Het
Or5m5 A G 2: 85,814,651 (GRCm39) I156V probably benign Het
Ovgp1 A C 3: 105,894,387 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,962,313 (GRCm39) Q230L possibly damaging Het
Pkn1 C T 8: 84,396,922 (GRCm39) V910I probably benign Het
Plcb1 T A 2: 135,167,722 (GRCm39) probably null Het
Ppp1r12c A G 7: 4,485,788 (GRCm39) probably null Het
Rassf5 T A 1: 131,172,551 (GRCm39) Q106L possibly damaging Het
Rfc1 T C 5: 65,470,322 (GRCm39) K62E possibly damaging Het
Sf3b1 C T 1: 55,058,554 (GRCm39) E12K probably damaging Het
Slc4a1ap A T 5: 31,705,982 (GRCm39) D691V probably benign Het
Speg T A 1: 75,399,401 (GRCm39) F2283I probably benign Het
Styxl2 A T 1: 165,937,615 (GRCm39) probably null Het
Synj2 A G 17: 6,084,114 (GRCm39) K267E probably damaging Het
Tg A T 15: 66,711,211 (GRCm39) Y991F probably damaging Het
Tlk1 A T 2: 70,572,427 (GRCm39) D380E probably benign Het
Trim43b A T 9: 88,967,418 (GRCm39) L405H probably damaging Het
Ttf2 A G 3: 100,863,576 (GRCm39) I586T probably damaging Het
Ugt2b36 T A 5: 87,229,445 (GRCm39) R213S probably damaging Het
Vmn1r198 T A 13: 22,538,577 (GRCm39) M21K probably benign Het
Wdr35 A T 12: 9,028,685 (GRCm39) Y101F probably benign Het
Zfp367 T C 13: 64,292,064 (GRCm39) Y189C probably damaging 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
R2106:Or8w1 UTSW 2 87,465,503 (GRCm39) missense probably benign 0.22
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
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'- AGGTAAACTCCAGCCATCAGG -3'
(R):5'- GGAATTACCAAGAACCCTGACATG -3'

Sequencing Primer
(F):5'- GACATGTTCACTGTGTAGAGCAATG -3'
(R):5'- GACATGAGAGTGACCTTCTTCAC -3'
Posted On 2018-06-06