Incidental Mutation 'IGL01575:Olfr488'
ID91213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr488
Ensembl Gene ENSMUSG00000096465
Gene Nameolfactory receptor 488
SynonymsGA_x6K02T2PBJ9-10586187-10585243, MOR204-15
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.360) question?
Stock #IGL01575
Quality Score
Status
Chromosome7
Chromosomal Location108251617-108258347 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 108255535 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 201 (V201G)
Ref Sequence ENSEMBL: ENSMUSP00000149427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072968] [ENSMUST00000211345] [ENSMUST00000211508] [ENSMUST00000215173]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072968
AA Change: V201G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072735
Gene: ENSMUSG00000096465
AA Change: V201G

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 5.7e-53 PFAM
Pfam:7tm_1 44 293 2.6e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211345
AA Change: V201G
Predicted Effect possibly damaging
Transcript: ENSMUST00000211508
AA Change: V201G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215173
AA Change: V201G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,285,176 probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Boll A G 1: 55,323,648 probably null Het
Cngb1 G A 8: 95,264,520 P226S possibly damaging Het
Commd3 G A 2: 18,674,717 probably null Het
Ddx46 C T 13: 55,654,183 probably benign Het
Dmrtb1 A G 4: 107,684,068 I32T probably benign Het
Dnah7a T C 1: 53,427,820 probably benign Het
Dppa5a A G 9: 78,367,780 I80T possibly damaging Het
Galntl6 T C 8: 58,427,676 probably benign Het
Gm9803 T C 10: 43,524,415 V55A probably benign Het
Hmgcr A G 13: 96,656,595 Y510H possibly damaging Het
Idua G T 5: 108,682,107 R505L possibly damaging Het
Ifna15 A G 4: 88,557,807 F147L probably damaging Het
Itga4 T C 2: 79,288,255 S433P probably damaging Het
Kcnc1 T C 7: 46,428,099 Y442H possibly damaging Het
Kmt2d A G 15: 98,846,855 probably benign Het
Mpp7 A G 18: 7,403,365 probably benign Het
Olfr292 T C 7: 86,695,293 V279A probably benign Het
Olfr790 A G 10: 129,501,567 I228V probably benign Het
Phf14 T C 6: 11,990,051 L693S probably damaging Het
Pkd1 A G 17: 24,573,128 N1263S probably damaging Het
Rhbdl1 G T 17: 25,836,138 A32E possibly damaging Het
Samd9l A G 6: 3,376,734 S176P possibly damaging Het
Scn1a G T 2: 66,273,236 F1893L probably damaging Het
Serpina3f C A 12: 104,218,440 P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 Q294K probably benign Het
Sspo G A 6: 48,459,042 S1154N probably benign Het
Tdrd6 A G 17: 43,627,980 S726P probably benign Het
Tiam2 A T 17: 3,454,316 E24V probably damaging Het
Tmf1 T C 6: 97,175,936 E392G probably damaging Het
Tns2 T C 15: 102,113,191 V1089A probably damaging Het
Tspyl1 C A 10: 34,283,090 N270K probably damaging Het
Usp32 A T 11: 85,022,802 V901D probably damaging Het
Vldlr A G 19: 27,246,631 I764V probably benign Het
Wnk2 A G 13: 49,146,676 V186A probably damaging Het
Zdhhc18 A G 4: 133,613,899 V221A probably damaging Het
Other mutations in Olfr488
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02510:Olfr488 APN 7 108256141 utr 5 prime probably benign
IGL02943:Olfr488 APN 7 108255416 missense possibly damaging 0.80
IGL02962:Olfr488 APN 7 108255703 missense possibly damaging 0.78
PIT4472001:Olfr488 UTSW 7 108256103 missense possibly damaging 0.46
R0980:Olfr488 UTSW 7 108256022 small deletion probably benign
R0981:Olfr488 UTSW 7 108256021 small deletion probably benign
R0981:Olfr488 UTSW 7 108256022 small deletion probably benign
R1957:Olfr488 UTSW 7 108255196 nonsense probably null
R3147:Olfr488 UTSW 7 108255676 missense possibly damaging 0.89
R4163:Olfr488 UTSW 7 108255832 missense probably benign 0.06
R4190:Olfr488 UTSW 7 108256123 missense probably benign
R4911:Olfr488 UTSW 7 108256037 missense possibly damaging 0.81
R5274:Olfr488 UTSW 7 108255635 missense probably benign 0.02
R5684:Olfr488 UTSW 7 108256039 missense possibly damaging 0.75
R6394:Olfr488 UTSW 7 108255763 missense possibly damaging 0.95
R6467:Olfr488 UTSW 7 108255902 missense probably damaging 0.99
R7173:Olfr488 UTSW 7 108255748 missense possibly damaging 0.78
R7317:Olfr488 UTSW 7 108255218 missense probably benign 0.00
R7348:Olfr488 UTSW 7 108256123 missense probably benign
R7485:Olfr488 UTSW 7 108255838 missense probably damaging 1.00
Posted On2013-12-09