|Institutional Source||Beutler Lab|
|Gene Name||olfactory receptor 1048|
|Is this an essential gene?||Probably non essential (E-score: 0.132)|
|Stock #||R8217 (G1)|
|Chromosomal Location||86233951-86240289 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 86236518 bp|
|Amino Acid Change||Valine to Methionine at position 106 (V106M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097484 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099900]|
|Predicted Effect||probably benign
AA Change: V106M
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: V106M
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
|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 Olfr1048||
(F):5'- CACAGCTTGGAAGACACTGTAGAG -3'
(R):5'- TTACACACAGGCCTGAGCTG -3'
(F):5'- CACTGTAGAGATAGGGAATGCC -3'
(R):5'- CATAGTCATCTACGGAGTTGCCATG -3'