Incidental Mutation 'IGL00236:Olfr1489'
ID2053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1489
Ensembl Gene ENSMUSG00000045678
Gene Nameolfactory receptor 1489
SynonymsGA_x6K02T2RE5P-3965668-3966609, MOR202-19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00236
Quality Score
Status
Chromosome19
Chromosomal Location13631621-13643987 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13633539 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 143 (I143F)
Ref Sequence ENSEMBL: ENSMUSP00000149711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053113] [ENSMUST00000217182]
Predicted Effect probably benign
Transcript: ENSMUST00000053113
AA Change: I143F

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: I143F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.7e-53 PFAM
Pfam:7tm_1 39 289 1.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104103
Predicted Effect probably benign
Transcript: ENSMUST00000217182
AA Change: I143F

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Olfr1489
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03052:Olfr1489 UTSW 19 13633726 missense probably benign 0.00
R0179:Olfr1489 UTSW 19 13633140 missense probably damaging 1.00
R0270:Olfr1489 UTSW 19 13633684 missense probably damaging 1.00
R0633:Olfr1489 UTSW 19 13633336 missense probably damaging 0.99
R4466:Olfr1489 UTSW 19 13633437 missense probably damaging 0.97
R4884:Olfr1489 UTSW 19 13634027 missense probably benign 0.14
R5247:Olfr1489 UTSW 19 13633414 missense probably damaging 1.00
R5332:Olfr1489 UTSW 19 13633365 missense possibly damaging 0.91
R5754:Olfr1489 UTSW 19 13633993 missense probably damaging 0.99
R6165:Olfr1489 UTSW 19 13633143 missense possibly damaging 0.93
R6165:Olfr1489 UTSW 19 13633588 missense probably benign 0.02
R6221:Olfr1489 UTSW 19 13633466 nonsense probably null
R6486:Olfr1489 UTSW 19 13633691 missense probably damaging 1.00
R7008:Olfr1489 UTSW 19 13633621 missense probably damaging 1.00
R7076:Olfr1489 UTSW 19 13633880 missense possibly damaging 0.95
R7539:Olfr1489 UTSW 19 13633569 nonsense probably null
R8278:Olfr1489 UTSW 19 13633594 missense possibly damaging 0.87
R8708:Olfr1489 UTSW 19 13634037 missense probably benign 0.00
Z1088:Olfr1489 UTSW 19 13633453 missense probably damaging 1.00
Posted On2011-12-09