Incidental Mutation 'IGL03329:Olfr1018'
ID416783
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 #IGL03329
Quality Score
Status
Chromosome2
Chromosomal Location85818479-85824221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 85823385 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 138 (D138A)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
Predicted Effect probably benign
Transcript: ENSMUST00000054201
AA Change: D138A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: D138A

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214416
AA Change: D138A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,298,047 D2598G probably benign Het
Abcf2 T G 5: 24,571,248 probably null Het
Acsl1 T A 8: 46,492,994 C55S possibly damaging Het
Adam22 T A 5: 8,149,210 M249L possibly damaging Het
Alk A G 17: 71,899,164 probably benign Het
Ambn T G 5: 88,461,668 S78R probably benign Het
Apbb1ip T A 2: 22,867,717 V449D possibly damaging Het
Atp13a5 A T 16: 29,334,065 Y194* probably null Het
Cacul1 A T 19: 60,543,051 F260Y probably damaging Het
Cfap46 A G 7: 139,601,165 I2640T probably damaging Het
Chd7 T C 4: 8,841,108 S1446P probably damaging Het
Clcn2 G A 16: 20,712,152 T276I probably damaging Het
Dcbld1 T G 10: 52,319,625 Y310D probably damaging Het
Dennd4c G A 4: 86,777,876 V157I probably damaging Het
Dennd5b G T 6: 148,998,260 T1213K possibly damaging Het
Dusp8 A T 7: 142,084,360 L177* probably null Het
Erbb4 T C 1: 68,328,122 S479G probably benign Het
Gpbp1 T A 13: 111,453,253 probably benign Het
Hmcn1 T A 1: 150,732,910 Q1507L probably damaging Het
Inppl1 G T 7: 101,824,380 T1021K possibly damaging Het
Klk1b9 A G 7: 43,979,414 E114G probably benign Het
Klre1 T C 6: 129,585,697 probably benign Het
Lancl1 T C 1: 67,021,050 Y72C probably damaging Het
Lexm G T 4: 106,607,404 R353S possibly damaging Het
Lilra6 A G 7: 3,914,648 probably benign Het
Magi2 T C 5: 20,466,128 V490A possibly damaging Het
Myo3b T A 2: 70,254,459 N720K probably damaging Het
Olfr857 T C 9: 19,713,301 V158A probably benign Het
Ppp2r3a T A 9: 101,126,431 probably benign Het
Rbm47 T C 5: 66,026,693 D189G probably damaging Het
Scn2a G A 2: 65,764,629 D1941N probably benign Het
Sgpp2 T C 1: 78,390,563 I111T probably benign Het
Sh3bp2 T C 5: 34,559,202 V319A probably benign Het
Slc12a3 A C 8: 94,365,891 Q980P possibly damaging Het
Slc39a8 G T 3: 135,884,713 G389V probably damaging Het
Slc5a3 T C 16: 92,077,460 I135T probably damaging Het
Smu1 A G 4: 40,739,568 V414A possibly damaging Het
Tlr12 A G 4: 128,616,852 F535S possibly damaging Het
Trim47 A G 11: 116,106,428 V501A probably damaging Het
Vmn1r16 A T 6: 57,323,618 N6K probably damaging Het
Vwce G A 19: 10,659,996 C711Y possibly damaging Het
Wdr25 C T 12: 108,898,336 L136F probably benign Het
Xpo1 A G 11: 23,284,306 Q437R probably benign Het
Zfp169 C A 13: 48,490,794 probably benign Het
Zfp607b A T 7: 27,703,870 I584F probably damaging Het
Zzef1 T A 11: 72,917,273 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
IGL03400:Olfr1018 APN 2 85823750 missense probably damaging 1.00
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