Incidental Mutation 'IGL02731:Olfr1123'
ID305446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1123
Ensembl Gene ENSMUSG00000043274
Gene Nameolfactory receptor 1123
SynonymsMOR264-17, GA_x6K02T2Q125-48917235-48918206
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.397) question?
Stock #IGL02731
Quality Score
Status
Chromosome2
Chromosomal Location87416635-87423211 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 87418707 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 220 (V220I)
Ref Sequence ENSEMBL: ENSMUSP00000058786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054974] [ENSMUST00000216208]
Predicted Effect probably benign
Transcript: ENSMUST00000054974
AA Change: V220I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000058786
Gene: ENSMUSG00000043274
AA Change: V220I

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 4.4e-52 PFAM
Pfam:7tm_1 54 303 2.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214663
Predicted Effect probably benign
Transcript: ENSMUST00000216208
AA Change: V218I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A T 11: 61,893,476 D515E possibly damaging Het
Ankrd13b A T 11: 77,476,219 S9R probably damaging Het
Ano9 G A 7: 141,107,204 A374V probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep78 T A 19: 15,956,306 H636L probably benign Het
Chd2 A G 7: 73,493,456 V563A probably damaging Het
Cndp1 G T 18: 84,631,958 D203E probably damaging Het
Col16a1 G A 4: 130,053,530 probably benign Het
Copa T C 1: 172,102,218 V284A possibly damaging Het
Dlec1 A G 9: 119,147,120 T1656A probably benign Het
Dopey1 T C 9: 86,487,381 I89T probably damaging Het
Eif2ak4 T C 2: 118,388,814 S36P probably benign Het
Ep300 A T 15: 81,648,414 I1618F unknown Het
Fan1 G A 7: 64,372,993 L171F possibly damaging Het
Fancm A G 12: 65,088,305 T291A probably benign Het
Gm14325 T C 2: 177,832,986 K101R probably damaging Het
Hmx3 A T 7: 131,543,963 probably null Het
Htt G T 5: 34,803,793 V255L probably benign Het
L3mbtl3 C T 10: 26,344,176 probably null Het
Lmbr1l A G 15: 98,917,896 L9P probably damaging Het
Lyzl6 A T 11: 103,635,077 Y72* probably null Het
Mib1 A G 18: 10,800,115 E818G possibly damaging Het
Neb T C 2: 52,160,703 T6405A probably damaging Het
Npas3 A G 12: 54,067,795 D482G probably benign Het
Nuak2 C A 1: 132,316,357 A43E probably damaging Het
Olfr1242 T C 2: 89,493,457 Y285C probably damaging Het
Olfr1289 A T 2: 111,483,528 I33L probably benign Het
Olfr1434 T C 19: 12,283,842 S265P probably damaging Het
Pde11a C A 2: 75,991,239 A899S probably benign Het
Ppfibp2 A T 7: 107,746,422 I884F possibly damaging Het
Pus7l A G 15: 94,523,464 V655A probably benign Het
Rad51ap2 A G 12: 11,456,896 D273G probably damaging Het
Rc3h2 T C 2: 37,382,811 D751G probably benign Het
Sdk1 C T 5: 142,172,544 A1863V probably damaging Het
Spns3 T C 11: 72,529,577 Y361C probably damaging Het
Srp72 T A 5: 76,994,215 I372N probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tcf20 A G 15: 82,853,237 S1338P probably benign Het
Tcte1 G A 17: 45,539,886 V363I probably benign Het
Vmn1r42 T C 6: 89,845,425 K54R probably benign Het
Vps13b A G 15: 35,917,128 N3706S probably benign Het
Vwde T C 6: 13,192,614 Y430C probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Zfp959 G A 17: 55,895,956 probably benign Het
Other mutations in Olfr1123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Olfr1123 APN 2 87418566 missense possibly damaging 0.75
IGL01067:Olfr1123 APN 2 87418370 missense probably benign 0.00
IGL01526:Olfr1123 APN 2 87418975 missense probably damaging 0.99
IGL01580:Olfr1123 APN 2 87418536 missense probably benign 0.06
IGL01986:Olfr1123 APN 2 87418536 missense probably benign 0.00
IGL02503:Olfr1123 APN 2 87418292 missense probably benign 0.03
IGL02527:Olfr1123 APN 2 87418837 missense probably damaging 1.00
IGL03215:Olfr1123 APN 2 87418068 missense probably benign 0.05
IGL03366:Olfr1123 APN 2 87418243 missense possibly damaging 0.88
R0645:Olfr1123 UTSW 2 87418268 nonsense probably null
R1857:Olfr1123 UTSW 2 87418648 missense probably damaging 1.00
R2175:Olfr1123 UTSW 2 87418156 missense probably damaging 1.00
R3691:Olfr1123 UTSW 2 87418170 missense probably benign 0.20
R4082:Olfr1123 UTSW 2 87418457 nonsense probably null
R4635:Olfr1123 UTSW 2 87418699 missense probably benign 0.05
R4877:Olfr1123 UTSW 2 87418563 nonsense probably null
R5190:Olfr1123 UTSW 2 87418843 missense probably damaging 1.00
R5253:Olfr1123 UTSW 2 87418668 missense possibly damaging 0.64
R6266:Olfr1123 UTSW 2 87419006 missense probably benign 0.01
R6784:Olfr1123 UTSW 2 87418452 missense probably benign 0.20
R6909:Olfr1123 UTSW 2 87418615 missense probably damaging 1.00
R7255:Olfr1123 UTSW 2 87418942 missense probably damaging 0.96
Posted On2015-04-16