|Institutional Source||Beutler Lab|
|Gene Name||olfactory receptor 512|
|Is this an essential gene?||Probably non essential (E-score: 0.094)|
|Stock #||R6295 (G1)|
|Chromosomal Location||108713320-108714375 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 108713638 bp|
|Amino Acid Change||Valine to Alanine at position 95 (V95A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074730] [ENSMUST00000209620]|
|Predicted Effect||probably damaging
AA Change: V95A
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V95A
|Predicted Effect||possibly damaging
AA Change: V83A
PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|Meta Mutation Damage Score||0.2606|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
|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 Olfr512||
(F):5'- CCTGAACTTCAAGATCAGATGTTTGG -3'
(R):5'- TGGTACCTGAGACCCATGAG -3'
(F):5'- CAAGATCAGATGTTTGGGACTTTCC -3'
(R):5'- GTACCTGAGACCCATGAGAACATAAC -3'