Incidental Mutation 'IGL02713:Olfr518'
ID304635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr518
Ensembl Gene ENSMUSG00000046431
Gene Nameolfactory receptor 518
SynonymsMOR268-5, GA_x6K02T2PBJ9-11211854-11210853
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.268) question?
Stock #IGL02713
Quality Score
Status
Chromosome7
Chromosomal Location108880188-108885006 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 108880853 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 251 (T251I)
Ref Sequence ENSEMBL: ENSMUSP00000151883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059617] [ENSMUST00000217803]
Predicted Effect probably damaging
Transcript: ENSMUST00000059617
AA Change: T251I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431
AA Change: T251I

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:7tm_4 50 327 7.1e-60 PFAM
Pfam:7tm_1 60 318 1.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217803
AA Change: T251I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,624,137 K893N possibly damaging Het
Acan A G 7: 79,100,244 T1588A possibly damaging Het
Apeh A T 9: 108,085,672 L700Q probably damaging Het
Arid1b T C 17: 5,343,011 I2272T probably damaging Het
Best3 T G 10: 117,024,529 F565V probably benign Het
Birc6 A G 17: 74,579,324 N521S probably benign Het
Cd209f T A 8: 4,103,732 R191S probably benign Het
Clec4e A T 6: 123,286,304 Y63* probably null Het
Cyp26c1 C T 19: 37,693,219 T490M probably damaging Het
Cyp2b9 T A 7: 26,173,520 H29Q probably benign Het
Cyp2d10 A C 15: 82,406,082 probably benign Het
Dgat1 C A 15: 76,503,534 R291L probably damaging Het
Dyrk1a C A 16: 94,685,345 probably benign Het
Esp4 T C 17: 40,602,406 F55L probably benign Het
Fam227a G A 15: 79,636,796 probably benign Het
Ggt1 T C 10: 75,574,344 Y37H probably damaging Het
Grsf1 A T 5: 88,672,730 I64K probably damaging Het
Itga6 C T 2: 71,816,713 T89I possibly damaging Het
Jph2 T C 2: 163,375,917 T280A probably damaging Het
Lipm A G 19: 34,101,170 M1V probably null Het
Nbeal1 C T 1: 60,235,237 A513V possibly damaging Het
Olfr1491 A T 19: 13,705,189 I121F possibly damaging Het
Olfr514 A T 7: 108,825,594 M135K probably damaging Het
Olfr61 A T 7: 140,637,916 I72F probably damaging Het
Olfr888 C T 9: 38,109,327 P214S probably damaging Het
Olfr995 T A 2: 85,438,637 I174F probably damaging Het
Orc6 A G 8: 85,307,586 E146G probably benign Het
Patl2 A G 2: 122,125,847 S179P probably benign Het
Pdzd8 C A 19: 59,345,458 G44C probably damaging Het
Phox2b A G 5: 67,096,595 probably benign Het
Ppp4r3b T G 11: 29,188,445 H264Q probably damaging Het
Ptprk T C 10: 28,592,811 I1409T possibly damaging Het
Pum1 T A 4: 130,766,012 I842N probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sgca T A 11: 94,971,305 N174Y probably damaging Het
Slc7a14 A T 3: 31,257,763 L36Q probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stard13 G A 5: 151,042,186 Q935* probably null Het
Suds3 C T 5: 117,094,905 probably null Het
Sv2b A T 7: 75,124,163 L520Q possibly damaging Het
Tmem26 T C 10: 68,751,295 F191S probably damaging Het
Other mutations in Olfr518
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02995:Olfr518 APN 7 108880991 missense probably damaging 1.00
IGL03162:Olfr518 APN 7 108881604 start codon destroyed probably null
IGL03389:Olfr518 APN 7 108880775 missense probably damaging 0.99
R0731:Olfr518 UTSW 7 108881533 missense probably damaging 1.00
R1669:Olfr518 UTSW 7 108880713 missense probably benign 0.00
R2235:Olfr518 UTSW 7 108880965 missense probably benign 0.09
R4740:Olfr518 UTSW 7 108881482 missense probably benign 0.05
R4902:Olfr518 UTSW 7 108881417 missense probably benign 0.00
R5343:Olfr518 UTSW 7 108880998 missense possibly damaging 0.87
R6744:Olfr518 UTSW 7 108880830 missense probably damaging 0.99
X0066:Olfr518 UTSW 7 108881472 missense probably benign 0.00
Posted On2015-04-16