Incidental Mutation 'IGL02555:Olfr1249'
ID298461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1249
Ensembl Gene ENSMUSG00000075079
Gene Nameolfactory receptor 1249
SynonymsMOR231-16P, MOR231-16P, GA_x6K02T2Q125-51072323-51071367, MOR231-25_p, MOR231-17P, Olfr1541-ps1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL02555
Quality Score
Status
Chromosome2
Chromosomal Location89628902-89634983 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 89630203 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 232 (R232C)
Ref Sequence ENSEMBL: ENSMUSP00000149072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099769] [ENSMUST00000216124]
Predicted Effect probably damaging
Transcript: ENSMUST00000099769
AA Change: R232C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097357
Gene: ENSMUSG00000075079
AA Change: R232C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 4.9e-47 PFAM
Pfam:7tm_1 39 285 1.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216124
AA Change: R232C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Adam9 T C 8: 24,966,736 N661D probably damaging Het
Amy1 C T 3: 113,564,892 E164K probably benign Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Fmnl2 A G 2: 53,126,851 probably null Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Kcnk5 A T 14: 20,141,985 H369Q probably benign Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Scaf4 C T 16: 90,250,305 A395T unknown Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Tubgcp3 A T 8: 12,639,595 M557K probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K probably damaging Het
Other mutations in Olfr1249
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Olfr1249 APN 2 89630620 nonsense probably null
IGL02127:Olfr1249 APN 2 89630754 missense probably damaging 0.97
IGL02645:Olfr1249 APN 2 89630335 missense probably benign 0.05
IGL03112:Olfr1249 APN 2 89630334 missense probably benign 0.11
R1460:Olfr1249 UTSW 2 89629938 unclassified probably null
R1496:Olfr1249 UTSW 2 89630014 missense possibly damaging 0.96
R4634:Olfr1249 UTSW 2 89630172 missense possibly damaging 0.93
R4635:Olfr1249 UTSW 2 89630172 missense possibly damaging 0.93
R4636:Olfr1249 UTSW 2 89630172 missense possibly damaging 0.93
R5668:Olfr1249 UTSW 2 89630344 missense probably damaging 1.00
R5787:Olfr1249 UTSW 2 89630674 missense probably benign 0.05
R5888:Olfr1249 UTSW 2 89630799 missense probably damaging 0.99
R6267:Olfr1249 UTSW 2 89630631 missense probably damaging 0.98
R6296:Olfr1249 UTSW 2 89630631 missense probably damaging 0.98
Posted On2015-04-16