Incidental Mutation 'IGL01300:Olfr118'
ID75219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr118
Ensembl Gene ENSMUSG00000080990
Gene Nameolfactory receptor 118
SynonymsMOR263-13, GA_x6K02T2PSCP-2131124-2132089
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01300
Quality Score
Status
Chromosome17
Chromosomal Location37666988-37673476 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 37672887 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 288 (T288K)
Ref Sequence ENSEMBL: ENSMUSP00000151212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122036] [ENSMUST00000215811] [ENSMUST00000216551]
Predicted Effect probably damaging
Transcript: ENSMUST00000122036
AA Change: T288K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: T288K

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 32 173 2e-6 PFAM
Pfam:7tm_4 37 314 2.1e-57 PFAM
Pfam:7TM_GPCR_Srsx 41 311 5.8e-6 PFAM
Pfam:7tm_1 47 296 1.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215811
AA Change: T288K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216551
AA Change: T288K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Anxa8 A G 14: 34,099,743 D300G probably benign Het
Cacna1g T C 11: 94,433,912 H1161R probably benign Het
Col14a1 G A 15: 55,467,976 R1471Q unknown Het
Gm14496 A T 2: 182,000,960 E808V probably damaging Het
Gm1968 T C 16: 29,962,220 noncoding transcript Het
Gzmb G A 14: 56,260,196 R196C probably benign Het
Hkdc1 A G 10: 62,395,261 probably benign Het
Itgal T A 7: 127,314,118 V629E probably damaging Het
Jak2 T A 19: 29,309,683 Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 probably benign Het
Mmd T C 11: 90,249,711 M1T probably null Het
Myh6 A G 14: 54,963,091 V191A possibly damaging Het
Mynn A G 3: 30,613,606 N485S probably damaging Het
Naa30 C T 14: 49,173,257 T214M probably damaging Het
Ncoa3 A T 2: 166,068,461 T1265S probably benign Het
Olfr338 T C 2: 36,377,042 S89P probably benign Het
Prex1 A G 2: 166,638,407 C138R possibly damaging Het
Prom2 A T 2: 127,535,089 L535H probably benign Het
Pros1 T C 16: 62,913,811 F327L possibly damaging Het
Ros1 A G 10: 52,101,713 M1479T probably benign Het
Scn9a G A 2: 66,488,053 Q1465* probably null Het
Serpinb3b A G 1: 107,155,843 probably benign Het
Sipa1l3 G A 7: 29,399,828 Q339* probably null Het
Slc34a2 A C 5: 53,068,127 probably null Het
Smc3 T A 19: 53,641,852 probably benign Het
Tmem30a A G 9: 79,775,100 probably null Het
Trappc11 A T 8: 47,501,868 D878E probably benign Het
Trrap C T 5: 144,804,818 T1325M probably damaging Het
Ttc12 A T 9: 49,447,922 probably benign Het
Vmn1r237 T A 17: 21,314,075 I20N probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Vmn2r74 A G 7: 85,957,206 Y311H probably benign Het
Vnn3 T A 10: 23,864,365 F189I possibly damaging Het
Other mutations in Olfr118
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02456:Olfr118 APN 17 37672449 missense possibly damaging 0.90
IGL02750:Olfr118 APN 17 37672609 nonsense probably null
IGL03083:Olfr118 APN 17 37672660 nonsense probably null
IGL03339:Olfr118 APN 17 37672557 missense possibly damaging 0.87
R0032:Olfr118 UTSW 17 37672487 missense probably damaging 1.00
R1457:Olfr118 UTSW 17 37672925 nonsense probably null
R1542:Olfr118 UTSW 17 37672251 missense probably damaging 1.00
R1771:Olfr118 UTSW 17 37672663 missense probably damaging 1.00
R1893:Olfr118 UTSW 17 37672856 nonsense probably null
R2395:Olfr118 UTSW 17 37672696 nonsense probably null
R3619:Olfr118 UTSW 17 37672640 missense probably benign 0.05
R3917:Olfr118 UTSW 17 37672793 missense probably damaging 1.00
R3937:Olfr118 UTSW 17 37672967 missense probably benign 0.01
R5600:Olfr118 UTSW 17 37672285 missense possibly damaging 0.91
R6415:Olfr118 UTSW 17 37672557 missense possibly damaging 0.87
R6462:Olfr118 UTSW 17 37672220 missense probably damaging 1.00
R7355:Olfr118 UTSW 17 37672410 missense probably benign 0.02
R7861:Olfr118 UTSW 17 37672517 missense possibly damaging 0.91
R7913:Olfr118 UTSW 17 37672108 missense probably benign
R7952:Olfr118 UTSW 17 37672817 missense probably damaging 1.00
R7969:Olfr118 UTSW 17 37672656 missense probably damaging 1.00
R8879:Olfr118 UTSW 17 37672411 nonsense probably null
RF003:Olfr118 UTSW 17 37672858 missense probably damaging 1.00
Posted On2013-10-07