Incidental Mutation 'IGL02457:Olfr450'
ID294451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr450
Ensembl Gene ENSMUSG00000054431
Gene Nameolfactory receptor 450
SynonymsMOR257-3, GA_x6K02T2P3E9-4742413-4741481
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02457
Quality Score
Status
Chromosome6
Chromosomal Location42811939-42819081 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42818242 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 257 (I257N)
Ref Sequence ENSEMBL: ENSMUSP00000151908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067503] [ENSMUST00000218832]
Predicted Effect probably damaging
Transcript: ENSMUST00000067503
AA Change: I257N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068823
Gene: ENSMUSG00000054431
AA Change: I257N

DomainStartEndE-ValueType
Pfam:7tm_4 33 308 8.2e-49 PFAM
Pfam:7tm_1 43 291 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218832
AA Change: I257N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,494,334 D343G probably benign Het
Acot10 T C 15: 20,666,143 S171G possibly damaging Het
Actr3b T C 5: 25,849,162 probably null Het
Adamts17 T C 7: 67,027,814 M492T probably damaging Het
Akap4 A C X: 7,077,468 N670T probably benign Het
Atrip A G 9: 109,065,231 S55P possibly damaging Het
Bend3 A T 10: 43,509,950 E113V probably damaging Het
Ccdc158 A C 5: 92,650,048 I411S probably damaging Het
Cd163l1 G A 7: 140,220,395 G30S probably benign Het
Cfap97 G T 8: 46,170,278 C235F possibly damaging Het
Chil4 T C 3: 106,214,399 N45D probably benign Het
D430041D05Rik A G 2: 104,249,345 V1131A probably damaging Het
Defb38 T C 8: 19,026,536 probably benign Het
Dnah10 T A 5: 124,789,796 W2260R probably damaging Het
Ecsit A G 9: 22,078,204 S14P probably damaging Het
Eif3l T C 15: 79,078,096 F106L probably benign Het
Erich5 G T 15: 34,470,853 G76V probably damaging Het
Evpl A G 11: 116,230,113 L432P possibly damaging Het
Fbxw10 T C 11: 62,874,982 F698L probably damaging Het
Frem2 A T 3: 53,521,049 S2866T probably damaging Het
Fuca1 G A 4: 135,934,762 V334I probably benign Het
Hprt T A X: 53,002,133 H60Q probably benign Het
Kirrel2 T C 7: 30,452,740 N481S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lilr4b T A 10: 51,481,238 Y57N probably benign Het
Lix1l A G 3: 96,614,476 Y126C probably damaging Het
Lox T C 18: 52,521,316 D347G probably damaging Het
Mak16 C T 8: 31,164,725 R147Q possibly damaging Het
Ndst2 G A 14: 20,729,554 A206V possibly damaging Het
Olfr356 A T 2: 36,937,748 I210F probably damaging Het
Phldb1 T C 9: 44,716,474 M225V probably benign Het
Pofut1 C T 2: 153,248,596 Q137* probably null Het
Polr2a T C 11: 69,743,250 probably benign Het
Prdm5 T A 6: 65,881,116 L388Q probably damaging Het
Rad51c A G 11: 87,380,855 S344P possibly damaging Het
Sdk1 C T 5: 141,953,016 P398L probably damaging Het
Sec63 G A 10: 42,801,733 probably benign Het
Sgo1 A T 17: 53,676,961 L463Q probably damaging Het
Slc5a6 A G 5: 31,040,658 L291P probably damaging Het
Smarcb1 T C 10: 75,921,371 T9A probably benign Het
Sp3 A G 2: 72,971,469 W67R probably damaging Het
Ssxb9 A C X: 21,174,995 S23A probably benign Het
Syne1 A G 10: 5,342,167 L1367S probably damaging Het
Tbc1d23 T A 16: 57,170,391 I690F probably damaging Het
Tdgf1 C T 9: 110,942,623 C32Y probably damaging Het
Tmed5 A T 5: 108,124,550 S227R probably benign Het
Tnrc6c T A 11: 117,722,977 S814T probably benign Het
Trbv2 C T 6: 41,047,971 T107I probably benign Het
Trpm6 T C 19: 18,825,791 V866A probably damaging Het
Trpm6 A T 19: 18,827,398 K905* probably null Het
Ttn A G 2: 76,709,310 V34444A probably benign Het
Vmn1r86 C T 7: 13,102,780 M56I probably benign Het
Vmn2r17 A C 5: 109,453,146 D770A probably damaging Het
Wnk4 T C 11: 101,269,563 probably benign Het
Xaf1 T C 11: 72,303,431 M46T possibly damaging Het
Other mutations in Olfr450
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Olfr450 APN 6 42818274 missense probably damaging 0.99
IGL01720:Olfr450 APN 6 42817593 missense probably benign 0.00
R0376:Olfr450 UTSW 6 42818292 missense probably benign 0.00
R1804:Olfr450 UTSW 6 42818221 missense possibly damaging 0.66
R1823:Olfr450 UTSW 6 42818268 missense possibly damaging 0.49
R2115:Olfr450 UTSW 6 42817497 missense possibly damaging 0.65
R4817:Olfr450 UTSW 6 42817962 missense possibly damaging 0.78
R5730:Olfr450 UTSW 6 42818160 nonsense probably null
R5938:Olfr450 UTSW 6 42817767 missense probably damaging 1.00
R6514:Olfr450 UTSW 6 42817996 missense probably damaging 0.97
R7050:Olfr450 UTSW 6 42817570 missense possibly damaging 0.61
R7211:Olfr450 UTSW 6 42818016 missense probably benign 0.41
Z1177:Olfr450 UTSW 6 42818199 missense possibly damaging 0.93
Posted On2015-04-16