Incidental Mutation 'IGL02033:Or5b104'
ID 184415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b104
Ensembl Gene ENSMUSG00000061637
Gene Name olfactory receptor family 5 subfamily B member 104
Synonyms MOR202-20, Olfr1457, GA_x6K02T2RE5P-3423041-3422097
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02033
Quality Score
Status
Chromosome 19
Chromosomal Location 13072057-13073010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13072221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 91 (S91G)
Ref Sequence ENSEMBL: ENSMUSP00000149056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075170] [ENSMUST00000208913] [ENSMUST00000214561] [ENSMUST00000215229]
AlphaFold Q8VFK3
Predicted Effect probably benign
Transcript: ENSMUST00000075170
AA Change: S264G

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074665
Gene: ENSMUSG00000061637
AA Change: S264G

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 3.6e-45 PFAM
Pfam:7tm_1 42 291 9.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208913
Predicted Effect possibly damaging
Transcript: ENSMUST00000214561
AA Change: S91G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000215229
AA Change: S264G

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,407,995 (GRCm39) F107L possibly damaging Het
Adam30 G T 3: 98,068,787 (GRCm39) V79F probably benign Het
Akap8l T C 17: 32,557,246 (GRCm39) R122G probably damaging Het
Apc T A 18: 34,443,772 (GRCm39) S570R probably damaging Het
Btnl10 A G 11: 58,810,141 (GRCm39) E94G probably damaging Het
Col25a1 A T 3: 130,182,597 (GRCm39) probably benign Het
Cubn A C 2: 13,344,657 (GRCm39) I2208S probably damaging Het
Cyp17a1 A T 19: 46,661,046 (GRCm39) Y79* probably null Het
Dach1 T A 14: 98,138,865 (GRCm39) H474L possibly damaging Het
Dnai4 G T 4: 102,923,490 (GRCm39) N123K possibly damaging Het
Dscaml1 A T 9: 45,595,080 (GRCm39) I728F probably damaging Het
Erp29 G T 5: 121,590,305 (GRCm39) S33R probably benign Het
Fat3 A C 9: 15,826,648 (GRCm39) S4435A possibly damaging Het
Fbxw13 T C 9: 109,010,484 (GRCm39) I385V probably damaging Het
Hspg2 T C 4: 137,279,565 (GRCm39) M3160T probably benign Het
Lrrc28 C T 7: 67,209,605 (GRCm39) probably null Het
Myh15 T C 16: 48,965,707 (GRCm39) V1204A probably benign Het
Pcare T A 17: 72,058,076 (GRCm39) I534F probably damaging Het
Pde5a G A 3: 122,596,710 (GRCm39) E434K possibly damaging Het
Pgr T A 9: 8,965,111 (GRCm39) V753E probably damaging Het
Pik3c3 T A 18: 30,445,703 (GRCm39) S563R possibly damaging Het
Ppt2 A G 17: 34,844,728 (GRCm39) probably benign Het
Prg4 T A 1: 150,331,619 (GRCm39) probably benign Het
Pygo1 G T 9: 72,852,683 (GRCm39) S290I possibly damaging Het
Ralgapa1 G T 12: 55,689,262 (GRCm39) H1946N possibly damaging Het
Rap1gds1 A G 3: 138,661,232 (GRCm39) probably benign Het
Sema4g G A 19: 44,985,854 (GRCm39) R256H probably damaging Het
Slc22a12 T G 19: 6,587,844 (GRCm39) D370A probably benign Het
Spata16 G A 3: 26,967,483 (GRCm39) probably null Het
Trim44 A G 2: 102,230,521 (GRCm39) M170T possibly damaging Het
Trpv6 A T 6: 41,604,551 (GRCm39) probably benign Het
Vwa8 T G 14: 79,221,649 (GRCm39) L535R possibly damaging Het
Other mutations in Or5b104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Or5b104 APN 19 13,072,476 (GRCm39) missense probably damaging 1.00
IGL01815:Or5b104 APN 19 13,073,020 (GRCm39) splice site probably null
R0490:Or5b104 UTSW 19 13,072,176 (GRCm39) missense probably damaging 1.00
R1205:Or5b104 UTSW 19 13,072,899 (GRCm39) missense probably benign 0.01
R1299:Or5b104 UTSW 19 13,072,494 (GRCm39) missense possibly damaging 0.78
R1782:Or5b104 UTSW 19 13,072,167 (GRCm39) missense probably damaging 0.99
R1983:Or5b104 UTSW 19 13,072,748 (GRCm39) missense probably benign 0.01
R2364:Or5b104 UTSW 19 13,072,118 (GRCm39) missense probably damaging 1.00
R3815:Or5b104 UTSW 19 13,072,277 (GRCm39) missense probably damaging 0.98
R4092:Or5b104 UTSW 19 13,072,790 (GRCm39) missense probably damaging 0.97
R4430:Or5b104 UTSW 19 13,072,452 (GRCm39) missense probably benign 0.03
R7200:Or5b104 UTSW 19 13,072,596 (GRCm39) missense probably benign 0.04
R8079:Or5b104 UTSW 19 13,072,648 (GRCm39) nonsense probably null
R8497:Or5b104 UTSW 19 13,072,707 (GRCm39) missense probably benign
R8949:Or5b104 UTSW 19 13,072,490 (GRCm39) start codon destroyed probably null 0.00
R9336:Or5b104 UTSW 19 13,072,513 (GRCm39) missense probably benign 0.04
R9534:Or5b104 UTSW 19 13,072,121 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07