Incidental Mutation 'IGL02175:Olfr1241'
ID283071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1241
Ensembl Gene ENSMUSG00000075086
Gene Nameolfactory receptor 1241
SynonymsMOR231-14, GA_x6K02T2Q125-50926215-50925271
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02175
Quality Score
Status
Chromosome2
Chromosomal Location89481314-89487126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89482282 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 284 (I284M)
Ref Sequence ENSEMBL: ENSMUSP00000149914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099778] [ENSMUST00000214743] [ENSMUST00000215055]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099778
AA Change: I284M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: I284M

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 8.5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214743
AA Change: I284M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215055
AA Change: I284M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,535,013 probably null Het
Adgrf5 A G 17: 43,451,010 I1199V probably damaging Het
Atm T A 9: 53,480,665 H1808L probably damaging Het
Cadps C T 14: 12,467,092 V942M probably damaging Het
Capns1 T C 7: 30,190,532 D116G probably benign Het
Ccdc110 T G 8: 45,940,623 M124R probably benign Het
Cdh23 T C 10: 60,331,308 N1855S possibly damaging Het
Dstyk T A 1: 132,449,391 L245* probably null Het
Dync2h1 A G 9: 7,111,548 Y289H possibly damaging Het
Efcab6 G A 15: 83,896,100 A1044V probably damaging Het
Egr1 T C 18: 34,863,055 S297P probably benign Het
Ercc6l2 T C 13: 63,869,190 probably benign Het
Frem2 C T 3: 53,655,599 A496T possibly damaging Het
Hook2 T A 8: 84,991,402 W53R probably damaging Het
Med19 T A 2: 84,678,663 probably null Het
Mgrn1 A G 16: 4,920,368 N262S probably benign Het
Nbas T G 12: 13,566,259 probably null Het
Ndc80 A C 17: 71,511,419 M314R probably benign Het
Nelfcd A T 2: 174,420,382 T89S probably benign Het
Nlrp4a A T 7: 26,475,097 E969D probably damaging Het
Ntrk3 A G 7: 78,247,228 V687A probably damaging Het
Oc90 A C 15: 65,883,825 S224R possibly damaging Het
Plxnb1 C T 9: 109,100,846 H257Y possibly damaging Het
Prpf3 A G 3: 95,834,107 V579A probably damaging Het
Rarres1 T C 3: 67,495,756 N104S probably benign Het
Serpina1d T C 12: 103,765,696 probably null Het
Sik2 G A 9: 50,895,609 Q834* probably null Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Snx13 T A 12: 35,132,062 N703K possibly damaging Het
Spaca9 T C 2: 28,695,924 I43V probably benign Het
Tor1aip2 T C 1: 156,065,006 S353P probably damaging Het
Trmt1l T C 1: 151,448,484 S361P probably benign Het
Trpm2 T C 10: 77,937,907 H558R probably benign Het
Vmn1r75 T C 7: 11,880,847 C127R probably damaging Het
Zfp879 A T 11: 50,837,916 Y84N probably benign Het
Other mutations in Olfr1241
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Olfr1241 APN 2 89482847 missense probably benign 0.38
IGL02625:Olfr1241 APN 2 89482674 missense probably damaging 1.00
R0109:Olfr1241 UTSW 2 89482803 missense probably benign 0.10
R0109:Olfr1241 UTSW 2 89482803 missense probably benign 0.10
R1468:Olfr1241 UTSW 2 89482511 missense possibly damaging 0.94
R1468:Olfr1241 UTSW 2 89482511 missense possibly damaging 0.94
R1511:Olfr1241 UTSW 2 89482248 missense probably null 0.01
R1527:Olfr1241 UTSW 2 89482532 missense probably benign 0.10
R1528:Olfr1241 UTSW 2 89482553 missense probably damaging 1.00
R1585:Olfr1241 UTSW 2 89482971 missense probably benign 0.00
R2483:Olfr1241 UTSW 2 89483127 nonsense probably null
R2972:Olfr1241 UTSW 2 89482776 missense possibly damaging 0.52
R3692:Olfr1241 UTSW 2 89482896 missense probably benign
R4592:Olfr1241 UTSW 2 89482756 missense probably damaging 1.00
R4883:Olfr1241 UTSW 2 89482308 missense probably benign
R7104:Olfr1241 UTSW 2 89483114 missense possibly damaging 0.70
R7347:Olfr1241 UTSW 2 89482455 missense probably benign 0.05
Posted On2015-04-16