Incidental Mutation 'R4024:Or8w1'
ID 313374
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 041612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4024 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87465163-87466089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87465499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 197 (L197F)
Ref Sequence ENSEMBL: ENSMUSP00000149683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090711] [ENSMUST00000213302] [ENSMUST00000216082] [ENSMUST00000216756]
AlphaFold Q8VG97
Predicted Effect probably damaging
Transcript: ENSMUST00000090711
AA Change: L197F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088213
Gene: ENSMUSG00000068818
AA Change: L197F

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 damaging
Transcript: ENSMUST00000216082
AA Change: L197F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000216756
Meta Mutation Damage Score 0.2784 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (58/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,215,251 (GRCm39) Y842H probably damaging Het
Adamts9 A G 6: 92,849,765 (GRCm39) probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Armc2 A G 10: 41,869,054 (GRCm39) S37P probably benign Het
Bhmt2 G A 13: 93,799,839 (GRCm39) probably benign Het
Bpifb1 A T 2: 154,054,966 (GRCm39) D286V probably damaging Het
Cadps T A 14: 12,705,539 (GRCm38) E285D probably damaging Het
Cap2 C T 13: 46,791,317 (GRCm39) probably benign Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Cmip A G 8: 118,174,155 (GRCm39) I412V possibly damaging Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Colec10 A G 15: 54,325,947 (GRCm39) D259G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dzank1 T C 2: 144,324,147 (GRCm39) S565G probably benign Het
Eef2k A G 7: 120,457,821 (GRCm39) Y60C probably benign Het
Fbxl4 T C 4: 22,377,074 (GRCm39) V170A possibly damaging Het
Foxk2 T A 11: 121,176,439 (GRCm39) I195N possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gpr6 G A 10: 40,947,264 (GRCm39) T106M probably damaging Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Hnmt T C 2: 23,893,777 (GRCm39) D239G probably benign Het
Igf2 A G 7: 142,208,044 (GRCm39) V111A probably benign Het
Lrriq3 G A 3: 154,893,939 (GRCm39) E547K probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Mroh8 A G 2: 157,098,272 (GRCm39) V292A probably benign Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nisch A G 14: 30,898,776 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,026,154 (GRCm39) T195A probably benign Het
Or10aa3 C T 1: 173,878,683 (GRCm39) T248I probably benign Het
Or2t47 G A 11: 58,442,222 (GRCm39) T281I possibly damaging Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Plekhn1 A G 4: 156,309,207 (GRCm39) V233A probably damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Sash1 T C 10: 8,605,681 (GRCm39) D903G probably benign Het
Scn8a A G 15: 100,937,674 (GRCm39) D1681G probably damaging Het
Slk A G 19: 47,610,809 (GRCm39) probably null Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tlr11 C T 14: 50,600,303 (GRCm39) T763I probably benign Het
Ttbk2 T C 2: 120,590,736 (GRCm39) T308A possibly damaging Het
Tyk2 G A 9: 21,027,215 (GRCm39) L552F probably damaging Het
Ubp1 A G 9: 113,773,951 (GRCm39) D50G probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A T 9: 120,873,915 (GRCm39) I1172N possibly damaging Het
Usf3 T A 16: 44,036,528 (GRCm39) V336E possibly damaging Het
Vangl2 T C 1: 171,835,608 (GRCm39) S355G probably benign Het
Vmn1r216 A G 13: 23,284,061 (GRCm39) D248G probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vsig10l T C 7: 43,117,510 (GRCm39) V701A probably benign Het
Wdfy3 A G 5: 102,071,961 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,544 (GRCm39) C258S possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q 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
R2106:Or8w1 UTSW 2 87,465,503 (GRCm39) missense probably benign 0.22
R3711:Or8w1 UTSW 2 87,466,025 (GRCm39) missense probably benign
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'- AAGAGCATAGTCCCCTGGAATAC -3'
(R):5'- AGGCCATCAGTAACCCATTGC -3'

Sequencing Primer
(F):5'- TAGTCCCCTGGAATACTGCAACAG -3'
(R):5'- TGCTCTACACAGTGAACATGTC -3'
Posted On 2015-04-30