Incidental Mutation 'IGL03381:Or5b108'
ID 420680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b108
Ensembl Gene ENSMUSG00000094721
Gene Name olfactory receptor family 5 subfamily B member 108
Synonyms GA_x6K02T2RE5P-3517488-3518411, Olfr1462, MOR202-13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03381
Quality Score
Status
Chromosome 19
Chromosomal Location 13168033-13168956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13168769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 246 (V246D)
Ref Sequence ENSEMBL: ENSMUSP00000147174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076832] [ENSMUST00000208533]
AlphaFold Q8VFW3
Predicted Effect probably damaging
Transcript: ENSMUST00000076832
AA Change: V246D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076107
Gene: ENSMUSG00000094721
AA Change: V246D

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.3e-51 PFAM
Pfam:7tm_1 39 288 6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208533
AA Change: V246D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik T C 17: 47,200,812 (GRCm39) probably benign Het
Abca16 T C 7: 120,127,041 (GRCm39) F1243S probably benign Het
Adgrv1 A G 13: 81,666,086 (GRCm39) V1990A probably damaging Het
Arhgdib G A 6: 136,909,314 (GRCm39) T69I probably benign Het
Atf2 G A 2: 73,659,012 (GRCm39) A214V probably benign Het
Ccr2 G A 9: 123,906,409 (GRCm39) V230I probably benign Het
Cnksr1 T C 4: 133,959,482 (GRCm39) E384G probably damaging Het
Epha5 T A 5: 84,479,191 (GRCm39) D271V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Gzmf A T 14: 56,444,450 (GRCm39) V41E probably benign Het
H2-T10 C T 17: 36,430,246 (GRCm39) D232N probably benign Het
H2-T10 T A 17: 36,430,249 (GRCm39) K231* probably null Het
Hsd3b6 A G 3: 98,715,128 (GRCm39) V88A possibly damaging Het
Kit C T 5: 75,767,788 (GRCm39) T57M probably benign Het
Klhl22 A G 16: 17,610,591 (GRCm39) D614G possibly damaging Het
Matr3 T A 18: 35,712,078 (GRCm39) probably benign Het
Mff A G 1: 82,719,661 (GRCm39) Y213C probably damaging Het
Mrnip A G 11: 50,090,417 (GRCm39) T194A probably benign Het
Msh6 T C 17: 88,292,537 (GRCm39) F431L probably damaging Het
Mttp G A 3: 137,810,704 (GRCm39) R637C probably damaging Het
Nlrc3 A G 16: 3,782,179 (GRCm39) V410A probably benign Het
Or4c120 A G 2: 89,001,523 (GRCm39) I11T possibly damaging Het
Or52a5b T C 7: 103,417,044 (GRCm39) I187V probably benign Het
Pramel21 T C 4: 143,343,625 (GRCm39) probably benign Het
Psip1 T C 4: 83,404,022 (GRCm39) T2A probably benign Het
Rbm33 T C 5: 28,599,390 (GRCm39) F921L unknown Het
Rhbdl2 T C 4: 123,716,610 (GRCm39) V189A possibly damaging Het
Rpap2 C T 5: 107,768,067 (GRCm39) P302S probably benign Het
Sec23ip T A 7: 128,352,029 (GRCm39) V32D probably damaging Het
Sh3yl1 T C 12: 30,976,836 (GRCm39) I47T possibly damaging Het
Spmip4 T C 6: 50,566,116 (GRCm39) S120G probably damaging Het
Tenm2 A C 11: 35,959,238 (GRCm39) S1104A probably benign Het
Ufd1 A G 16: 18,644,507 (GRCm39) D190G probably damaging Het
Ugt1a7c T C 1: 88,023,512 (GRCm39) F224L probably benign Het
Utp20 G T 10: 88,657,867 (GRCm39) F64L probably damaging Het
Vmn1r198 A G 13: 22,539,006 (GRCm39) Y164C probably benign Het
Wdcp T A 12: 4,901,926 (GRCm39) V594D probably damaging Het
Xirp2 A C 2: 67,344,570 (GRCm39) E2270D probably benign Het
Other mutations in Or5b108
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Or5b108 APN 19 13,168,598 (GRCm39) missense possibly damaging 0.60
IGL01999:Or5b108 APN 19 13,168,924 (GRCm39) missense probably damaging 0.99
IGL02326:Or5b108 APN 19 13,168,779 (GRCm39) nonsense probably null
R1184:Or5b108 UTSW 19 13,168,739 (GRCm39) missense probably damaging 0.99
R1434:Or5b108 UTSW 19 13,168,662 (GRCm39) missense probably benign 0.19
R2161:Or5b108 UTSW 19 13,168,673 (GRCm39) missense probably damaging 0.99
R2399:Or5b108 UTSW 19 13,168,709 (GRCm39) missense probably benign 0.02
R4583:Or5b108 UTSW 19 13,168,062 (GRCm39) missense probably damaging 1.00
R5937:Or5b108 UTSW 19 13,168,675 (GRCm39) missense probably damaging 1.00
R7164:Or5b108 UTSW 19 13,168,270 (GRCm39) missense probably benign 0.00
R7270:Or5b108 UTSW 19 13,168,768 (GRCm39) missense possibly damaging 0.90
R7645:Or5b108 UTSW 19 13,168,937 (GRCm39) missense probably benign 0.01
R7649:Or5b108 UTSW 19 13,168,136 (GRCm39) missense possibly damaging 0.94
R9713:Or5b108 UTSW 19 13,168,727 (GRCm39) missense probably benign 0.15
R9742:Or5b108 UTSW 19 13,168,769 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02