Incidental Mutation 'H2330:Or8d6'
ID 517
Institutional Source Beutler Lab
Gene Symbol Or8d6
Ensembl Gene ENSMUSG00000051493
Gene Name olfactory receptor family 8 subfamily D member 6
Synonyms Olfr974, GA_x6K02T2PVTD-33640290-33641222, MOR171-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # H2330 of strain 521
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 39853355-39854490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39854216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 220 (F220S)
Ref Sequence ENSEMBL: ENSMUSP00000149630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062833] [ENSMUST00000213246]
AlphaFold Q8VH09
Predicted Effect probably damaging
Transcript: ENSMUST00000062833
AA Change: F220S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: F220S

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.6e-52 PFAM
Pfam:7tm_1 41 290 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213246
AA Change: F220S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2810 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 79.5%
Het Detection Efficiency 59.4%
Validation Efficiency 87% (227/262)
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: 3 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Azin1 A G 15: 38,497,520 (GRCm39) I191T probably damaging Het
Gabrb2 G A 11: 42,312,258 (GRCm39) probably benign Homo
Psme4 A G 11: 30,801,210 (GRCm39) E1455G probably benign Homo
Other mutations in Or8d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Or8d6 APN 9 39,853,976 (GRCm39) missense probably benign 0.08
IGL01638:Or8d6 APN 9 39,853,816 (GRCm39) missense probably benign 0.03
IGL02826:Or8d6 APN 9 39,854,254 (GRCm39) missense probably damaging 1.00
IGL03136:Or8d6 APN 9 39,854,332 (GRCm39) missense probably damaging 1.00
R0005:Or8d6 UTSW 9 39,854,252 (GRCm39) missense probably benign
R0106:Or8d6 UTSW 9 39,854,119 (GRCm39) frame shift probably null
R1769:Or8d6 UTSW 9 39,854,251 (GRCm39) missense probably benign 0.43
R1870:Or8d6 UTSW 9 39,854,117 (GRCm39) missense probably damaging 0.99
R4416:Or8d6 UTSW 9 39,853,724 (GRCm39) missense probably damaging 1.00
R4860:Or8d6 UTSW 9 39,853,800 (GRCm39) missense probably benign 0.04
R4860:Or8d6 UTSW 9 39,853,800 (GRCm39) missense probably benign 0.04
R5105:Or8d6 UTSW 9 39,853,694 (GRCm39) missense probably benign 0.19
R5273:Or8d6 UTSW 9 39,853,853 (GRCm39) missense probably benign
R6520:Or8d6 UTSW 9 39,853,658 (GRCm39) missense possibly damaging 0.90
R7203:Or8d6 UTSW 9 39,853,805 (GRCm39) missense probably benign 0.01
R7923:Or8d6 UTSW 9 39,854,263 (GRCm39) nonsense probably null
R8037:Or8d6 UTSW 9 39,854,177 (GRCm39) missense probably damaging 0.98
R8038:Or8d6 UTSW 9 39,854,177 (GRCm39) missense probably damaging 0.98
R8712:Or8d6 UTSW 9 39,853,891 (GRCm39) missense probably damaging 0.99
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 659 of the Olfr974 transcript. The mutated nucleotide causes a phenylalanine to serine substitution at amino acid 220 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The  Olfr974 gene encodes the 310 amino acid olfactory receptor 974.  Olfactory receptors are G-protein coupled receptors (GPCRs) and typically contain seven transmembrane domains (Uniprot Q8VH09).

The F220S change is located in the fifth transmembrane domain (SMART), and is predicted to be probably damaging by the PolyPhen program.

Posted On 2010-11-02