|Institutional Source||Beutler Lab|
|Gene Name||olfactory receptor 248|
|Synonyms||GA_x6K02T2P20D-20771141-20770212, GA_x6K02T2MFC0-1145-1312, MOR267-7, Olfr415|
|Is this an essential gene?||Probably non essential (E-score: 0.089)|
|Stock #||R2009 (G1)|
|Chromosomal Location||174391046-174392055 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 174391429 bp|
|Amino Acid Change||Arginine to Leucine at position 120 (R120L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074799 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075329]|
|Predicted Effect||possibly damaging
AA Change: R120L
PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: R120L
|Meta Mutation Damage Score||0.2346|
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
|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 Olfr248||
(F):5'- TTGGGCAGACAGATATCTCCAC -3'
(R):5'- CTCAGAACTGCCCTCATATGG -3'
(F):5'- GACAGATATCTCCACACTCCTATG -3'
(R):5'- CCCTCATATGGCAGAAGAAGTGTC -3'