Incidental Mutation 'R6491:Or8b46'
ID 522879
Institutional Source Beutler Lab
Gene Symbol Or8b46
Ensembl Gene ENSMUSG00000060114
Gene Name olfactory receptor family 8 subfamily B member 46
Synonyms GA_x6K02T2PVTD-32239063-32239995, Olfr910, MOR165-3
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38449178-38451125 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38558751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 23 (L23P)
Ref Sequence ENSEMBL: ENSMUSP00000149860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000215191] [ENSMUST00000215291]
AlphaFold Q8VG76
Predicted Effect probably damaging
Transcript: ENSMUST00000215191
AA Change: L23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215291
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Ap2a1 A T 7: 44,565,588 (GRCm39) I93K probably damaging Het
Arnt T A 3: 95,383,454 (GRCm39) M240K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Mtdh T G 15: 34,116,473 (GRCm39) N17K probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 A G 4: 100,267,109 (GRCm39) N270S possibly damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Tjp1 A T 7: 64,986,865 (GRCm39) F207I possibly damaging Het
Trappc3 A G 4: 126,169,022 (GRCm39) I171V probably benign Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null Het
Other mutations in Or8b46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02740:Or8b46 APN 9 38,450,226 (GRCm39) missense probably damaging 1.00
R0096:Or8b46 UTSW 9 38,450,832 (GRCm39) missense probably damaging 0.96
R0550:Or8b46 UTSW 9 38,450,676 (GRCm39) missense probably damaging 0.97
R1375:Or8b46 UTSW 9 38,450,830 (GRCm39) missense possibly damaging 0.63
R1698:Or8b46 UTSW 9 38,450,552 (GRCm39) nonsense probably null
R2067:Or8b46 UTSW 9 38,450,576 (GRCm39) missense probably benign 0.09
R2111:Or8b46 UTSW 9 38,450,576 (GRCm39) missense probably benign 0.09
R2519:Or8b46 UTSW 9 38,450,281 (GRCm39) missense probably damaging 0.99
R4742:Or8b46 UTSW 9 38,450,952 (GRCm39) missense probably damaging 1.00
R4782:Or8b46 UTSW 9 38,450,371 (GRCm39) missense probably damaging 1.00
R7101:Or8b46 UTSW 9 38,450,966 (GRCm39) missense probably benign 0.02
R8108:Or8b46 UTSW 9 38,450,706 (GRCm39) missense probably damaging 0.97
R8270:Or8b46 UTSW 9 38,450,644 (GRCm39) missense noncoding transcript
R8426:Or8b46 UTSW 9 38,450,620 (GRCm39) missense probably damaging 0.98
R8446:Or8b46 UTSW 9 38,450,964 (GRCm39) missense probably benign 0.10
R9004:Or8b46 UTSW 9 38,450,530 (GRCm39) missense probably benign 0.29
R9463:Or8b46 UTSW 9 38,450,665 (GRCm39) missense probably damaging 0.97
Z1088:Or8b46 UTSW 9 38,450,445 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTTGGGTCATGCATCCTCT -3'
(R):5'- TGACGGACACAAAAGAGCAT -3'

Sequencing Primer
(F):5'- GGGTCATGCATCCTCTATAGG -3'
(R):5'- AGGAAAAAGTTATGTTGGTGATACTC -3'
Posted On 2018-06-06