Incidental Mutation 'IGL01728:Or8b53'
ID 105348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b53
Ensembl Gene ENSMUSG00000061039
Gene Name olfactory receptor family 8 subfamily B member 53
Synonyms MOR165-6, GA_x6K02T2PVTD-32458442-32459374, Olfr920
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01728
Quality Score
Status
Chromosome 9
Chromosomal Location 38664092-38668159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38667391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 136 (M136V)
Ref Sequence ENSEMBL: ENSMUSP00000074300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074740]
AlphaFold E9Q413
Predicted Effect possibly damaging
Transcript: ENSMUST00000074740
AA Change: M136V

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074300
Gene: ENSMUSG00000061039
AA Change: M136V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.2e-47 PFAM
Pfam:7tm_1 41 290 3.6e-22 PFAM
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
Adamtsl1 T C 4: 86,029,074 (GRCm39) I71T probably damaging Het
Agbl3 T C 6: 34,759,092 (GRCm39) M1T probably null Het
Ankib1 A G 5: 3,751,992 (GRCm39) probably benign Het
Brinp3 T G 1: 146,707,289 (GRCm39) probably null Het
Chuk T C 19: 44,087,085 (GRCm39) N138S possibly damaging Het
Dock7 G A 4: 98,850,568 (GRCm39) T1588M probably damaging Het
Ehbp1 G A 11: 22,051,115 (GRCm39) T479I probably damaging Het
Gpn2 T C 4: 133,311,813 (GRCm39) I15T possibly damaging Het
H3c2 G A 13: 23,936,712 (GRCm39) R117H probably benign Het
Haao A G 17: 84,142,658 (GRCm39) F149S probably damaging Het
Iqsec3 T A 6: 121,389,623 (GRCm39) probably benign Het
Lrrc39 G T 3: 116,373,149 (GRCm39) probably benign Het
Ltbp2 C A 12: 84,837,783 (GRCm39) S1199I probably damaging Het
Mageb3 G T 2: 121,784,941 (GRCm39) P254T probably damaging Het
Mapkbp1 C T 2: 119,854,302 (GRCm39) P1300S probably damaging Het
Mtfmt T A 9: 65,343,100 (GRCm39) L2H probably damaging Het
Myo18a G T 11: 77,668,682 (GRCm39) G181W probably damaging Het
Mzf1 T C 7: 12,785,654 (GRCm39) probably benign Het
Nfatc2 A T 2: 168,378,162 (GRCm39) L280Q probably damaging Het
Nudt15 A G 14: 73,760,736 (GRCm39) probably null Het
Or51k2 T C 7: 103,595,959 (GRCm39) F62S probably damaging Het
Parp14 A G 16: 35,677,805 (GRCm39) V721A probably damaging Het
Pbp2 G T 6: 135,287,073 (GRCm39) N91K probably damaging Het
Pde7b C A 10: 20,310,210 (GRCm39) probably null Het
Pramel7 C A 2: 87,321,674 (GRCm39) E120D possibly damaging Het
Rbbp5 C T 1: 132,425,818 (GRCm39) T516M probably benign Het
Slc16a12 A G 19: 34,668,071 (GRCm39) V28A possibly damaging Het
Slc6a9 T C 4: 117,721,802 (GRCm39) F276S probably damaging Het
Spata9 A T 13: 76,141,193 (GRCm39) I147L probably benign Het
Tenm4 A T 7: 96,545,271 (GRCm39) Y2429F probably damaging Het
Tmtc1 A G 6: 148,312,564 (GRCm39) S212P probably benign Het
Unc5cl A T 17: 48,766,991 (GRCm39) I122F probably damaging Het
Unc79 T A 12: 103,131,943 (GRCm39) F2350I probably damaging Het
Other mutations in Or8b53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Or8b53 APN 9 38,667,550 (GRCm39) missense probably damaging 1.00
IGL01867:Or8b53 APN 9 38,667,194 (GRCm39) missense probably damaging 1.00
IGL02271:Or8b53 APN 9 38,667,784 (GRCm39) missense probably benign
IGL03078:Or8b53 APN 9 38,667,541 (GRCm39) nonsense probably null
R0166:Or8b53 UTSW 9 38,667,484 (GRCm39) missense probably benign
R0446:Or8b53 UTSW 9 38,667,114 (GRCm39) missense probably damaging 1.00
R0453:Or8b53 UTSW 9 38,667,425 (GRCm39) missense probably damaging 0.99
R0556:Or8b53 UTSW 9 38,667,041 (GRCm39) missense possibly damaging 0.88
R1585:Or8b53 UTSW 9 38,667,716 (GRCm39) missense probably damaging 1.00
R2847:Or8b53 UTSW 9 38,667,332 (GRCm39) missense possibly damaging 0.89
R4676:Or8b53 UTSW 9 38,666,955 (GRCm39) start gained probably benign
R4825:Or8b53 UTSW 9 38,667,703 (GRCm39) missense probably damaging 1.00
R5026:Or8b53 UTSW 9 38,667,041 (GRCm39) missense probably benign 0.01
R5144:Or8b53 UTSW 9 38,667,689 (GRCm39) missense possibly damaging 0.90
R5573:Or8b53 UTSW 9 38,667,000 (GRCm39) missense probably damaging 1.00
R5872:Or8b53 UTSW 9 38,667,412 (GRCm39) missense probably benign 0.06
R6131:Or8b53 UTSW 9 38,667,362 (GRCm39) missense probably damaging 1.00
R6729:Or8b53 UTSW 9 38,667,124 (GRCm39) missense probably benign 0.00
R7731:Or8b53 UTSW 9 38,667,542 (GRCm39) missense possibly damaging 0.90
R7800:Or8b53 UTSW 9 38,667,914 (GRCm39) missense probably damaging 0.97
R8960:Or8b53 UTSW 9 38,667,385 (GRCm39) missense possibly damaging 0.80
Posted On 2014-01-21