Incidental Mutation 'IGL02390:Or1o1'
ID 294201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1o1
Ensembl Gene ENSMUSG00000063188
Gene Name olfactory receptor family 1 subfamily O member 1
Synonyms MOR156-3, GA_x6K02T2PSCP-1867165-1868094, Olfr107
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02390
Quality Score
Status
Chromosome 17
Chromosomal Location 37716368-37717400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37716986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 182 (L182F)
Ref Sequence ENSEMBL: ENSMUSP00000148879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077008] [ENSMUST00000215894] [ENSMUST00000215947] [ENSMUST00000215974] [ENSMUST00000216844]
AlphaFold Q7TRK4
Predicted Effect probably benign
Transcript: ENSMUST00000077008
AA Change: L182F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000076267
Gene: ENSMUSG00000063188
AA Change: L182F

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 32 302 1.3e-5 PFAM
Pfam:7tm_1 38 287 3.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174238
Predicted Effect probably benign
Transcript: ENSMUST00000215894
AA Change: L182F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215947
AA Change: L182F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215974
AA Change: L182F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216844
AA Change: L182F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,187,377 (GRCm39) K894R probably benign Het
Ampd1 C T 3: 102,986,357 (GRCm39) A12V probably benign Het
Ano4 T A 10: 88,860,843 (GRCm39) D345V possibly damaging Het
Arl6 A G 16: 59,441,580 (GRCm39) probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrn C T 2: 130,862,897 (GRCm39) P1326S possibly damaging Het
Btbd9 A G 17: 30,743,788 (GRCm39) V238A probably benign Het
Cdh16 T C 8: 105,348,606 (GRCm39) T141A probably damaging Het
Cetn4 T C 3: 37,363,305 (GRCm39) D102G probably damaging Het
Col5a3 T A 9: 20,688,292 (GRCm39) N1256I unknown Het
Cyfip2 A G 11: 46,112,225 (GRCm39) F993L possibly damaging Het
Dcaf6 T A 1: 165,250,490 (GRCm39) I125F possibly damaging Het
Dclk2 A C 3: 86,731,990 (GRCm39) S336A probably damaging Het
Dnah8 G A 17: 31,049,819 (GRCm39) V4327I probably benign Het
Ebna1bp2 T C 4: 118,478,694 (GRCm39) V59A possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
F2 A T 2: 91,463,332 (GRCm39) V184D possibly damaging Het
Fbxo38 C T 18: 62,666,660 (GRCm39) R171H probably damaging Het
Fhod3 A C 18: 25,199,332 (GRCm39) S668R probably benign Het
Fkbp10 T A 11: 100,306,843 (GRCm39) F78L probably damaging Het
Garre1 T C 7: 33,947,643 (GRCm39) D455G probably damaging Het
Hyi C T 4: 118,219,810 (GRCm39) R254C probably benign Het
Igfl3 A T 7: 17,915,659 (GRCm39) probably benign Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrrc8a C A 2: 30,146,713 (GRCm39) P509Q probably damaging Het
Mapkap1 T A 2: 34,322,101 (GRCm39) N6K probably damaging Het
Mdh1b T A 1: 63,760,716 (GRCm39) H115L probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mrpl15 T C 1: 4,855,837 (GRCm39) S22G probably benign Het
Nf1 T C 11: 79,456,761 (GRCm39) Y616H possibly damaging Het
Nf1 T A 11: 79,302,502 (GRCm39) probably benign Het
Olig1 C A 16: 91,067,041 (GRCm39) Q93K probably damaging Het
Or13d1 T A 4: 52,971,263 (GRCm39) I214N probably damaging Het
Or4f59 A T 2: 111,873,056 (GRCm39) V107E possibly damaging Het
Otoa C A 7: 120,730,590 (GRCm39) L597M possibly damaging Het
Parp16 C T 9: 65,141,051 (GRCm39) P207L possibly damaging Het
Pbrm1 T A 14: 30,754,467 (GRCm39) D162E probably benign Het
Pramel21 T A 4: 143,341,895 (GRCm39) M108K probably benign Het
Prdm10 A G 9: 31,264,685 (GRCm39) I658V possibly damaging Het
Psg21 A T 7: 18,386,556 (GRCm39) H143Q probably benign Het
Rfx4 C T 10: 84,676,014 (GRCm39) R28W probably damaging Het
Sart1 T G 19: 5,430,489 (GRCm39) M753L possibly damaging Het
Smcr8 T A 11: 60,670,548 (GRCm39) D565E probably benign Het
Smyd4 T A 11: 75,278,332 (GRCm39) probably null Het
Sned1 T C 1: 93,189,386 (GRCm39) V274A probably benign Het
Tbc1d13 T C 2: 30,027,399 (GRCm39) probably benign Het
Tox A T 4: 6,697,534 (GRCm39) I423N possibly damaging Het
Tsc2 A T 17: 24,819,427 (GRCm39) V1232D probably damaging Het
Uckl1 C T 2: 181,216,212 (GRCm39) V178I possibly damaging Het
Usp13 T A 3: 32,985,865 (GRCm39) Y175* probably null Het
Vwde A G 6: 13,190,684 (GRCm39) V469A probably damaging Het
Other mutations in Or1o1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Or1o1 APN 17 37,717,031 (GRCm39) missense probably benign 0.00
IGL01614:Or1o1 APN 17 37,716,529 (GRCm39) missense probably benign 0.00
R1051:Or1o1 UTSW 17 37,717,341 (GRCm39) missense possibly damaging 0.74
R4767:Or1o1 UTSW 17 37,717,091 (GRCm39) nonsense probably null
R4849:Or1o1 UTSW 17 37,716,589 (GRCm39) missense probably benign 0.16
R6182:Or1o1 UTSW 17 37,716,883 (GRCm39) missense possibly damaging 0.65
R6550:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6551:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6552:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6555:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6584:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6586:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6588:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6688:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6758:Or1o1 UTSW 17 37,716,586 (GRCm39) missense probably damaging 0.97
R7024:Or1o1 UTSW 17 37,717,095 (GRCm39) missense probably benign 0.04
R7083:Or1o1 UTSW 17 37,717,063 (GRCm39) missense probably benign 0.00
R8350:Or1o1 UTSW 17 37,717,260 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16