Incidental Mutation 'IGL02040:Olfr1062'
ID184699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1062
Ensembl Gene ENSMUSG00000090059
Gene Nameolfactory receptor 1062
SynonymsGA_x6K02T2Q125-47892992-47892045, MOR185-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02040
Quality Score
Status
Chromosome2
Chromosomal Location86420399-86426749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86422992 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 228 (I228T)
Ref Sequence ENSEMBL: ENSMUSP00000149742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105213] [ENSMUST00000217481]
Predicted Effect probably damaging
Transcript: ENSMUST00000105213
AA Change: I228T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: I228T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-46 PFAM
Pfam:7tm_1 41 290 2.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216166
Predicted Effect probably damaging
Transcript: ENSMUST00000217481
AA Change: I228T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,580,405 F107C probably damaging Het
4930590J08Rik T C 6: 91,918,110 V262A probably benign Het
A830018L16Rik T A 1: 11,933,598 probably benign Het
Adgrb1 T C 15: 74,541,575 V536A possibly damaging Het
Ano6 T G 15: 95,955,944 I667R probably benign Het
Ap3b1 T A 13: 94,408,845 probably null Het
Azin2 G T 4: 128,950,658 L37M possibly damaging Het
Caap1 A G 4: 94,550,430 I174T probably damaging Het
Cacna1h A G 17: 25,397,611 V46A probably benign Het
Chrna6 T C 8: 27,407,261 D196G probably damaging Het
Col19a1 A G 1: 24,312,045 probably null Het
Defb22 G T 2: 152,490,056 T19K possibly damaging Het
Dhx36 T C 3: 62,501,015 D134G probably benign Het
Dync1h1 A G 12: 110,637,124 I2211V probably benign Het
Ecel1 A C 1: 87,154,923 C23G probably benign Het
Elmod2 A G 8: 83,321,497 V112A probably damaging Het
Enpp1 T C 10: 24,655,856 K510E probably damaging Het
Erbb4 A T 1: 68,042,535 S1113R probably damaging Het
Esf1 A T 2: 140,129,261 D653E possibly damaging Het
Exd1 A G 2: 119,540,065 V54A possibly damaging Het
Fam227b A T 2: 126,121,084 probably benign Het
Fnbp1l A G 3: 122,570,953 probably benign Het
Foxf1 A G 8: 121,085,345 N316S probably damaging Het
Gm12794 G A 4: 101,941,134 V101I possibly damaging Het
Gm15448 A G 7: 3,821,517 probably benign Het
Gpaa1 T C 15: 76,334,295 V426A probably benign Het
Gpc2 A G 5: 138,276,582 probably null Het
Hnrnpab A G 11: 51,601,795 probably benign Het
Hsf4 T G 8: 105,275,667 probably benign Het
Inpp4a G T 1: 37,396,085 R179L probably damaging Het
Jakmip2 T A 18: 43,571,854 M361L probably benign Het
Kif15 A C 9: 123,017,385 Y117S probably damaging Het
Lnpep T C 17: 17,544,905 H761R probably benign Het
Masp2 G T 4: 148,603,813 C180F probably damaging Het
Mical2 A G 7: 112,311,406 E261G probably damaging Het
Mtmr7 T C 8: 40,560,885 I211V probably benign Het
Nsd2 T C 5: 33,867,571 probably benign Het
Olfr1226 A G 2: 89,193,563 I157T probably benign Het
Olfr638 A G 7: 104,003,407 N44S probably damaging Het
Olfr933 T C 9: 38,976,614 probably benign Het
Oxct1 G A 15: 4,026,768 probably benign Het
Plbd2 C T 5: 120,487,442 S430N probably damaging Het
Postn A G 3: 54,362,689 K63R probably benign Het
Proc A T 18: 32,134,860 V75E probably benign Het
Ptprt T C 2: 162,238,072 Y269C probably damaging Het
Rcc2 T C 4: 140,720,591 V476A possibly damaging Het
Recql5 A G 11: 115,932,797 V41A possibly damaging Het
Ros1 T A 10: 52,115,922 I1402F probably damaging Het
Rpgrip1 C T 14: 52,121,019 T194I possibly damaging Het
Scin T C 12: 40,069,453 probably benign Het
Skint4 T C 4: 112,146,482 probably benign Het
Sptan1 T A 2: 30,013,713 S1545T probably benign Het
Tpra1 A T 6: 88,910,182 H168L possibly damaging Het
Trim47 T C 11: 116,107,908 E295G probably damaging Het
Ttc28 T A 5: 110,892,936 C63* probably null Het
Usp45 G A 4: 21,830,433 R696H probably benign Het
Zfyve27 G A 19: 42,179,391 R124Q probably damaging Het
Other mutations in Olfr1062
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Olfr1062 APN 2 86423677 unclassified probably null
IGL02863:Olfr1062 APN 2 86423113 missense probably benign 0.44
R0211:Olfr1062 UTSW 2 86423107 missense probably damaging 0.96
R0211:Olfr1062 UTSW 2 86423107 missense probably damaging 0.96
R1486:Olfr1062 UTSW 2 86423481 missense probably damaging 0.99
R2327:Olfr1062 UTSW 2 86422821 nonsense probably null
R3695:Olfr1062 UTSW 2 86423643 missense probably damaging 0.96
R3981:Olfr1062 UTSW 2 86422842 missense probably damaging 1.00
R4156:Olfr1062 UTSW 2 86423200 missense possibly damaging 0.67
R4860:Olfr1062 UTSW 2 86422957 missense probably damaging 1.00
R4860:Olfr1062 UTSW 2 86422957 missense probably damaging 1.00
R5024:Olfr1062 UTSW 2 86423461 missense possibly damaging 0.77
R5351:Olfr1062 UTSW 2 86423266 missense probably damaging 1.00
R5566:Olfr1062 UTSW 2 86423377 nonsense probably null
R5777:Olfr1062 UTSW 2 86423325 missense probably benign 0.00
R6628:Olfr1062 UTSW 2 86423017 missense probably benign 0.02
R7039:Olfr1062 UTSW 2 86422833 missense possibly damaging 0.48
R7159:Olfr1062 UTSW 2 86423612 synonymous probably null
R7236:Olfr1062 UTSW 2 86423189 nonsense probably null
R7251:Olfr1062 UTSW 2 86423596 missense probably benign 0.45
X0065:Olfr1062 UTSW 2 86423122 missense probably benign 0.39
Posted On2014-05-07