Incidental Mutation 'IGL02373:Olfr818'
ID290988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr818
Ensembl Gene ENSMUSG00000058071
Gene Nameolfactory receptor 818
SynonymsGA_x6K02T2PULF-11624146-11623190, MOR110-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.039) question?
Stock #IGL02373
Quality Score
Status
Chromosome10
Chromosomal Location129944396-129949100 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129945465 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 84 (L84S)
Ref Sequence ENSEMBL: ENSMUSP00000145108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074308] [ENSMUST00000205227] [ENSMUST00000215527]
Predicted Effect probably benign
Transcript: ENSMUST00000074308
AA Change: L199S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: L199S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-47 PFAM
Pfam:7tm_1 39 287 3.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205227
AA Change: L84S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071
AA Change: L84S

DomainStartEndE-ValueType
Pfam:7tm_1 1 122 5e-13 PFAM
Pfam:7tm_4 1 123 8.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215527
AA Change: L199S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,249,805 L462F probably damaging Het
Adgrv1 T C 13: 81,459,713 D4080G possibly damaging Het
Apc A C 18: 34,316,159 D2002A probably damaging Het
Apobr T A 7: 126,585,391 F25I probably damaging Het
Cyp4a10 T A 4: 115,521,077 L120* probably null Het
Daam2 A G 17: 49,473,380 S704P probably damaging Het
Dcst1 G T 3: 89,357,891 N217K probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fmn1 C A 2: 113,364,126 P57Q unknown Het
Galnt1 G A 18: 24,280,035 G464D possibly damaging Het
Ggcx T A 6: 72,427,919 W437R probably damaging Het
Gm11487 T C 4: 73,403,643 M52V probably benign Het
Igkv13-54-1 T C 6: 69,617,320 noncoding transcript Het
Iglon5 T C 7: 43,479,219 E58G probably benign Het
Met C T 6: 17,491,529 P97S probably damaging Het
Myg1 T A 15: 102,336,833 M158K probably damaging Het
Ncald T A 15: 37,372,209 M131L probably benign Het
Nipa2 T C 7: 55,933,128 I290V probably benign Het
Olfr1307 C A 2: 111,944,833 V208L probably benign Het
Olfr507 A T 7: 108,622,103 Y97F probably benign Het
Ppfia3 C T 7: 45,358,849 R48Q probably damaging Het
Rab12 A G 17: 66,498,065 L156P probably damaging Het
Slc28a3 C T 13: 58,578,404 probably null Het
Slc4a11 T C 2: 130,684,898 N770S probably benign Het
Tanc1 T C 2: 59,796,028 probably null Het
Vmn2r-ps130 A T 17: 23,076,892 R679* probably null Het
Vwa5b2 G A 16: 20,604,844 R1169H probably damaging Het
Other mutations in Olfr818
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Olfr818 APN 10 129945911 missense possibly damaging 0.95
IGL00951:Olfr818 APN 10 129945712 missense probably damaging 0.99
IGL01700:Olfr818 APN 10 129945941 missense probably damaging 1.00
IGL02313:Olfr818 APN 10 129945903 missense probably damaging 1.00
IGL02983:Olfr818 APN 10 129945189 missense probably damaging 1.00
R0730:Olfr818 UTSW 10 129945111 missense probably benign 0.04
R1574:Olfr818 UTSW 10 129945510 missense probably damaging 1.00
R1574:Olfr818 UTSW 10 129945510 missense probably damaging 1.00
R1789:Olfr818 UTSW 10 129945582 nonsense probably null
R1824:Olfr818 UTSW 10 129945337 missense possibly damaging 0.67
R2107:Olfr818 UTSW 10 129945712 missense probably damaging 0.99
R2398:Olfr818 UTSW 10 129945207 missense probably benign 0.04
R5799:Olfr818 UTSW 10 129945911 missense possibly damaging 0.95
R6048:Olfr818 UTSW 10 129945826 missense possibly damaging 0.67
R7027:Olfr818 UTSW 10 129945172 missense possibly damaging 0.60
Posted On2015-04-16