Incidental Mutation 'IGL03400:Olfr1018'
ID421388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1018
Ensembl Gene ENSMUSG00000043892
Gene Nameolfactory receptor 1018
SynonymsGA_x6K02T2Q125-47301584-47302519, MOR260-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03400
Quality Score
Status
Chromosome2
Chromosomal Location85818479-85824221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85823750 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 260 (Y260H)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
Predicted Effect probably damaging
Transcript: ENSMUST00000054201
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: Y260H

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214416
AA Change: Y260H

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bmp3 T C 5: 98,872,098 S127P probably damaging Het
Ccdc84 A G 9: 44,413,189 V185A probably benign Het
Cemip A G 7: 83,958,516 S761P probably damaging Het
Ces3b A G 8: 105,092,936 T495A probably damaging Het
Cops3 A T 11: 59,818,088 D413E probably benign Het
Cyp4f16 A G 17: 32,550,353 I406V probably benign Het
Efcab6 A T 15: 83,867,045 probably benign Het
Emsy A G 7: 98,602,726 V703A possibly damaging Het
Fancb T C X: 164,995,591 S587P possibly damaging Het
Farp1 A G 14: 121,207,321 Y80C probably damaging Het
Fgf10 T C 13: 118,781,615 probably null Het
Fgf13 A G X: 59,125,888 probably benign Het
Filip1 T C 9: 79,820,473 K288R probably benign Het
L3mbtl3 T C 10: 26,315,526 N458S unknown Het
Nek11 C T 9: 105,204,866 A513T probably benign Het
Olfr1320 T A X: 49,683,904 L134Q probably damaging Het
Olfr512 A C 7: 108,713,526 I46L probably benign Het
Palld G T 8: 61,513,455 A630E probably damaging Het
Pdk1 T C 2: 71,895,747 M333T probably benign Het
Rab9 T C X: 166,457,748 N189S probably benign Het
Shtn1 C T 19: 59,032,258 probably benign Het
Sntg1 T C 1: 8,463,414 I339V probably damaging Het
Spns3 A G 11: 72,499,675 V418A possibly damaging Het
St14 T A 9: 31,096,971 probably benign Het
Tedc2 T C 17: 24,219,803 D180G probably benign Het
Trim33 T C 3: 103,329,143 I523T probably damaging Het
Ttn T A 2: 76,720,864 M23068L probably benign Het
Ttn T C 2: 76,748,922 M15549V probably damaging Het
Tubgcp6 A G 15: 89,108,099 probably benign Het
Ube3c A G 5: 29,601,347 Y329C probably benign Het
Zmym4 G T 4: 126,923,127 D259E probably benign Het
Other mutations in Olfr1018
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Olfr1018 APN 2 85822988 missense probably benign 0.00
IGL02795:Olfr1018 APN 2 85823512 nonsense probably null
IGL03189:Olfr1018 APN 2 85823558 missense probably benign 0.27
IGL03329:Olfr1018 APN 2 85823385 missense probably benign 0.02
IGL02796:Olfr1018 UTSW 2 85823589 missense probably benign 0.00
R5322:Olfr1018 UTSW 2 85823187 missense probably damaging 0.99
R5597:Olfr1018 UTSW 2 85823460 missense probably damaging 0.96
R6521:Olfr1018 UTSW 2 85823450 missense probably benign 0.01
R6725:Olfr1018 UTSW 2 85823790 missense probably damaging 0.97
R7068:Olfr1018 UTSW 2 85823052 missense probably benign 0.00
R7105:Olfr1018 UTSW 2 85823880 missense probably benign 0.22
R8011:Olfr1018 UTSW 2 85823613 missense possibly damaging 0.90
Z1176:Olfr1018 UTSW 2 85823021 missense probably damaging 1.00
Posted On2016-08-02