Incidental Mutation 'IGL03086:Olfr1389'
ID418096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1389
Ensembl Gene ENSMUSG00000107573
Gene Nameolfactory receptor 1389
SynonymsGA_x6K02T2QP88-6004387-6003452, MOR256-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL03086
Quality Score
Status
Chromosome11
Chromosomal Location49423067-49432968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49430805 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 110 (T110A)
Ref Sequence ENSEMBL: ENSMUSP00000149222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000203369] [ENSMUST00000216641] [ENSMUST00000217595]
Predicted Effect probably benign
Transcript: ENSMUST00000203369
AA Change: T110A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000145461
Gene: ENSMUSG00000107573
AA Change: T110A

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 1.9e-49 PFAM
Pfam:7tm_1 41 289 6.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216641
AA Change: T110A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000217595
AA Change: T110A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,643,278 I1158T possibly damaging Het
Ankrd11 A G 8: 122,894,510 S868P probably damaging Het
Atad3a C T 4: 155,748,670 probably null Het
Cadm4 A T 7: 24,500,815 N250Y probably damaging Het
Cd300c2 T C 11: 115,000,823 E75G possibly damaging Het
Cdc23 A C 18: 34,637,186 probably benign Het
Cep97 A G 16: 55,915,296 S380P probably benign Het
Ckap5 T A 2: 91,570,276 probably benign Het
Col6a4 A T 9: 106,082,862 probably benign Het
Dclk1 G A 3: 55,247,367 V73M probably damaging Het
Dnah8 T C 17: 30,742,780 L2297P probably damaging Het
Eif2a A G 3: 58,541,117 I124V probably benign Het
Fam227b A T 2: 126,119,031 I226K probably benign Het
Fcgr1 G T 3: 96,284,498 Y331* probably null Het
Helq T C 5: 100,796,927 T106A possibly damaging Het
Ly9 A T 1: 171,605,170 Y92N probably benign Het
Myom1 G A 17: 71,108,671 C1256Y probably damaging Het
Ndc80 G A 17: 71,520,925 T104I probably benign Het
Olfr513 A T 7: 108,755,796 probably benign Het
Olfr54 T A 11: 51,027,730 C243S probably damaging Het
Olfr570 T C 7: 102,900,406 F13S probably damaging Het
Phtf2 T C 5: 20,764,275 N679S probably damaging Het
Polq G A 16: 37,091,049 R2382K probably benign Het
Recql4 C T 15: 76,706,268 R672Q probably benign Het
Selenbp2 A G 3: 94,699,638 N197S probably damaging Het
Sirpb1a C A 3: 15,426,328 probably null Het
Slc12a2 T A 18: 57,921,784 D832E probably benign Het
Slc13a1 G A 6: 24,118,003 A245V probably damaging Het
Unc80 A G 1: 66,509,474 D635G probably damaging Het
Utp18 T C 11: 93,876,056 Q275R probably damaging Het
Wdr35 A G 12: 9,008,692 probably null Het
Zfyve26 A G 12: 79,295,564 V36A probably damaging Het
Other mutations in Olfr1389
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Olfr1389 APN 11 49431032 missense probably damaging 1.00
IGL02468:Olfr1389 APN 11 49431114 missense probably damaging 0.99
IGL02607:Olfr1389 APN 11 49430512 missense probably damaging 1.00
IGL02721:Olfr1389 APN 11 49430641 nonsense probably null
IGL02812:Olfr1389 APN 11 49430922 missense probably damaging 1.00
IGL03047:Olfr1389 UTSW 11 49430967 missense probably benign 0.10
PIT4531001:Olfr1389 UTSW 11 49430926 missense probably benign 0.01
R0413:Olfr1389 UTSW 11 49431385 missense possibly damaging 0.82
R0598:Olfr1389 UTSW 11 49431403 missense probably benign 0.00
R0653:Olfr1389 UTSW 11 49431251 nonsense probably null
R1654:Olfr1389 UTSW 11 49430502 missense probably benign 0.00
R2321:Olfr1389 UTSW 11 49431280 missense probably benign 0.00
R4995:Olfr1389 UTSW 11 49430655 missense probably damaging 1.00
R5670:Olfr1389 UTSW 11 49431208 missense probably damaging 1.00
R6127:Olfr1389 UTSW 11 49430806 missense probably damaging 0.97
R6327:Olfr1389 UTSW 11 49431001 missense probably damaging 1.00
R6935:Olfr1389 UTSW 11 49430998 missense probably damaging 0.97
Posted On2016-08-02