Incidental Mutation 'IGL01289:Olfr1241'
ID72845
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: 0.096) question?
Stock #IGL01289
Quality Score
Status
Chromosome2
Chromosomal Location89481314-89487126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89482847 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 96 (M96T)
Ref Sequence ENSEMBL: ENSMUSP00000149914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099778] [ENSMUST00000214743] [ENSMUST00000215055]
Predicted Effect probably benign
Transcript: ENSMUST00000099778
AA Change: M96T

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: M96T

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 8.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214743
AA Change: M96T

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215055
AA Change: M96T

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
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
4933402N03Rik T A 7: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Mcee T A 7: 64,400,318 F66I probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Npy5r T A 8: 66,681,866 N92Y possibly damaging Het
Rnf224 G T 2: 25,236,247 D31E possibly damaging Het
Timd2 T C 11: 46,679,672 E192G probably benign Het
Ttll13 T A 7: 80,260,439 C777S probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Zdhhc24 G T 19: 4,878,822 W25L probably damaging Het
Other mutations in Olfr1241
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02175:Olfr1241 APN 2 89482282 missense possibly damaging 0.96
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 On2013-10-07