|Institutional Source||Beutler Lab|
|Gene Name||olfactory receptor 517|
|Is this an essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R8160 (G1)|
|Chromosomal Location||108867208-108872379 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 108868788 bp|
|Amino Acid Change||Arginine to Glutamine at position 122 (R122Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081805 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084753]|
|Predicted Effect||possibly damaging
AA Change: R122Q
PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: R122Q
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
|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||
|Other mutations in Olfr517||
(F):5'- ATGCAAGCTCCAGTACTGC -3'
(R):5'- GCCTGCATATCCCCATGTAC -3'
(F):5'- CAGTACTGCTGGGGTTTCAC -3'
(R):5'- ATATCCCCATGTACCTGTTCTTGCAG -3'