Incidental Mutation 'IGL02263:Or5w1'
ID 286809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5w1
Ensembl Gene ENSMUSG00000111747
Gene Name olfactory receptor family 5 subfamily W member 1
Synonyms MOR176-1, Olfr1134, GA_x6K02T2Q125-49162076-49161138
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02263
Quality Score
Status
Chromosome 2
Chromosomal Location 87486269-87488801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87486543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 241 (C241S)
Ref Sequence ENSEMBL: ENSMUSP00000150358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099857] [ENSMUST00000135875] [ENSMUST00000213939]
AlphaFold Q7TR43
Predicted Effect probably damaging
Transcript: ENSMUST00000099854
AA Change: C241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097440
Gene: ENSMUSG00000075154
AA Change: C241S

DomainStartEndE-ValueType
GHB 123 190 1.21e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099857
AA Change: C241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097443
Gene: ENSMUSG00000111747
AA Change: C241S

DomainStartEndE-ValueType
GHB 123 190 1.21e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135875
AA Change: C241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213939
AA Change: C241S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,574,680 (GRCm39) V100A probably damaging Het
Agmo T A 12: 37,407,696 (GRCm39) N193K probably damaging Het
Dnah8 A G 17: 30,948,139 (GRCm39) I1910V probably benign Het
Dsg2 T A 18: 20,723,077 (GRCm39) S368T possibly damaging Het
Eif2ak4 A G 2: 118,292,259 (GRCm39) T1270A probably benign Het
Ina T C 19: 47,003,926 (GRCm39) S245P probably damaging Het
Katnb1 A G 8: 95,816,703 (GRCm39) K96R probably damaging Het
Kcnj4 A G 15: 79,369,988 (GRCm39) probably benign Het
Kcnn3 A G 3: 89,568,525 (GRCm39) H601R possibly damaging Het
Lrrc25 C A 8: 71,070,472 (GRCm39) F84L probably benign Het
Ltb A G 17: 35,414,977 (GRCm39) Y259C probably damaging Het
Macc1 T G 12: 119,409,752 (GRCm39) N173K possibly damaging Het
Med17 A T 9: 15,178,772 (GRCm39) N466K probably damaging Het
Ncoa2 A T 1: 13,244,987 (GRCm39) N570K probably damaging Het
Or52ae9 A T 7: 103,390,262 (GRCm39) F62I probably damaging Het
Or8k20 T A 2: 86,106,546 (GRCm39) Y95F probably benign Het
Plb1 T C 5: 32,478,692 (GRCm39) probably benign Het
Ptprk G A 10: 27,951,110 (GRCm39) V12I unknown Het
Rabggta G A 14: 55,956,418 (GRCm39) probably benign Het
Slc41a2 A G 10: 83,149,364 (GRCm39) V193A possibly damaging Het
Thbs1 A G 2: 117,950,361 (GRCm39) N665D probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r91 A G 7: 19,835,768 (GRCm39) D229G probably benign Het
Vmn2r7 A C 3: 64,598,868 (GRCm39) V654G probably damaging Het
Other mutations in Or5w1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Or5w1 APN 2 87,486,582 (GRCm39) missense probably benign 0.01
IGL01397:Or5w1 APN 2 87,487,249 (GRCm39) missense probably damaging 0.99
IGL01583:Or5w1 APN 2 87,486,757 (GRCm39) nonsense probably null
IGL01655:Or5w1 APN 2 87,486,773 (GRCm39) missense probably damaging 1.00
IGL02184:Or5w1 APN 2 87,487,136 (GRCm39) missense probably damaging 0.99
IGL02964:Or5w1 APN 2 87,487,058 (GRCm39) missense probably damaging 1.00
IGL03391:Or5w1 APN 2 87,487,032 (GRCm39) missense possibly damaging 0.93
R5171:Or5w1 UTSW 2 87,486,888 (GRCm39) missense possibly damaging 0.95
R6434:Or5w1 UTSW 2 87,486,558 (GRCm39) nonsense probably null
R7466:Or5w1 UTSW 2 87,486,740 (GRCm39) missense possibly damaging 0.73
R7770:Or5w1 UTSW 2 87,486,813 (GRCm39) missense not run
R8810:Or5w1 UTSW 2 87,486,591 (GRCm39) missense possibly damaging 0.54
R9249:Or5w1 UTSW 2 87,486,660 (GRCm39) missense probably benign 0.10
R9572:Or5w1 UTSW 2 87,486,914 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16