Incidental Mutation 'IGL02371:Olfr1287'
ID290919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1287
Ensembl Gene ENSMUSG00000095586
Gene Nameolfactory receptor 1287
SynonymsMOR248-15, GA_x6K02T2Q125-72500603-72501520
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02371
Quality Score
Status
Chromosome2
Chromosomal Location111449142-111450059 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111450009 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 290 (R290G)
Ref Sequence ENSEMBL: ENSMUSP00000074850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075390]
Predicted Effect probably damaging
Transcript: ENSMUST00000075390
AA Change: R290G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: R290G

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 6.7e-48 PFAM
Pfam:7tm_1 41 287 9.5e-20 PFAM
Meta Mutation Damage Score 0.7394 question?
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 T C 10: 18,646,539 T580A probably benign Het
Casp2 T A 6: 42,267,968 D100E probably benign Het
Cd1d1 C A 3: 86,998,881 R29L probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyct A G 2: 76,354,090 *106R probably null Het
Enam A G 5: 88,502,809 I726V probably benign Het
Epha3 T G 16: 63,585,020 probably null Het
Erbb4 T C 1: 68,290,294 D632G probably benign Het
Fam217a T C 13: 34,911,401 N125S possibly damaging Het
Fbxo32 A T 15: 58,181,464 probably benign Het
Foxa1 T C 12: 57,542,700 T245A probably damaging Het
Gars T C 6: 55,065,467 V395A probably benign Het
Gimap5 A T 6: 48,753,003 N169I probably damaging Het
Itgav A G 2: 83,770,053 M266V probably damaging Het
Klhl14 G A 18: 21,652,181 S63F probably damaging Het
Lpp G A 16: 24,761,611 A26T probably damaging Het
Lrrc17 T C 5: 21,560,996 Y159H probably damaging Het
Lzts1 A T 8: 69,138,798 S233T probably damaging Het
Mdn1 T C 4: 32,676,860 probably benign Het
Nrf1 A T 6: 30,118,991 I382F possibly damaging Het
Olfr24 G T 9: 18,754,704 S310R probably benign Het
Olfr266 A T 3: 106,822,046 F171Y probably damaging Het
Pde9a T A 17: 31,420,285 V63D possibly damaging Het
Plcg1 T A 2: 160,753,507 N484K probably damaging Het
Plekhg4 T A 8: 105,379,059 probably null Het
Pot1b A G 17: 55,695,092 Y161H possibly damaging Het
Ptchd4 G A 17: 42,316,974 G109S possibly damaging Het
Rad51ap1 T C 6: 126,927,564 N119S probably benign Het
Rbm22 C T 18: 60,571,956 probably benign Het
Stk36 T A 1: 74,622,255 S480R probably benign Het
Ugt2b5 A T 5: 87,127,676 probably null Het
Other mutations in Olfr1287
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Olfr1287 APN 2 111449889 missense probably benign 0.13
IGL01748:Olfr1287 APN 2 111449530 missense probably damaging 1.00
IGL02264:Olfr1287 APN 2 111449862 missense probably benign 0.05
IGL02385:Olfr1287 APN 2 111449350 missense probably damaging 1.00
IGL02704:Olfr1287 APN 2 111449147 missense probably benign 0.00
R0368:Olfr1287 UTSW 2 111449788 missense probably benign 0.07
R1520:Olfr1287 UTSW 2 111449274 missense probably benign 0.00
R2036:Olfr1287 UTSW 2 111449626 missense possibly damaging 0.80
R2890:Olfr1287 UTSW 2 111449289 missense probably benign 0.12
R3757:Olfr1287 UTSW 2 111449257 missense possibly damaging 0.95
R3801:Olfr1287 UTSW 2 111449565 missense probably benign 0.07
R3958:Olfr1287 UTSW 2 111449885 missense possibly damaging 0.50
R4077:Olfr1287 UTSW 2 111449503 missense probably damaging 0.99
R4763:Olfr1287 UTSW 2 111449678 nonsense probably null
R4955:Olfr1287 UTSW 2 111449605 missense probably damaging 1.00
R4975:Olfr1287 UTSW 2 111449683 missense probably benign 0.16
R5046:Olfr1287 UTSW 2 111449589 missense probably benign 0.01
R5512:Olfr1287 UTSW 2 111449754 missense probably benign 0.00
R5708:Olfr1287 UTSW 2 111450009 missense probably damaging 1.00
R5771:Olfr1287 UTSW 2 111450061 unclassified probably null
R5780:Olfr1287 UTSW 2 111449833 missense probably benign 0.03
R6981:Olfr1287 UTSW 2 111449352 missense probably benign 0.00
R7073:Olfr1287 UTSW 2 111449286 missense probably benign 0.22
R7633:Olfr1287 UTSW 2 111449622 missense probably benign
RF037:Olfr1287 UTSW 2 111449551 missense not run
RF039:Olfr1287 UTSW 2 111449551 missense not run
Z1088:Olfr1287 UTSW 2 111449457 missense probably benign 0.02
Z1176:Olfr1287 UTSW 2 111449784 missense probably damaging 0.96
Posted On2015-04-16