Incidental Mutation 'R5144:Or8b53'
ID 395052
Institutional Source Beutler Lab
Gene Symbol Or8b53
Ensembl Gene ENSMUSG00000061039
Gene Name olfactory receptor family 8 subfamily B member 53
Synonyms MOR165-6, GA_x6K02T2PVTD-32458442-32459374, Olfr920
MMRRC Submission 042728-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5144 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38664092-38668159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38667689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 235 (S235L)
Ref Sequence ENSEMBL: ENSMUSP00000074300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074740]
AlphaFold E9Q413
Predicted Effect possibly damaging
Transcript: ENSMUST00000074740
AA Change: S235L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074300
Gene: ENSMUSG00000061039
AA Change: S235L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.2e-47 PFAM
Pfam:7tm_1 41 290 3.6e-22 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
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
4933409G03Rik T A 2: 68,446,604 (GRCm39) probably benign Het
Arpc2 A T 1: 74,287,367 (GRCm39) K62N probably damaging Het
B4galt5 C T 2: 167,148,516 (GRCm39) E201K possibly damaging Het
Bub1b C T 2: 118,445,980 (GRCm39) T334M possibly damaging Het
Ccdc71 T C 9: 108,341,051 (GRCm39) V288A probably benign Het
Cep350 G A 1: 155,786,896 (GRCm39) R1444W probably damaging Het
Chrna4 A G 2: 180,666,623 (GRCm39) L605P probably damaging Het
Col6a5 T A 9: 105,766,482 (GRCm39) I1813F probably damaging Het
Col9a1 A G 1: 24,278,434 (GRCm39) I821V probably benign Het
D430041D05Rik T C 2: 104,088,847 (GRCm39) D43G probably damaging Het
Depdc7 T C 2: 104,560,598 (GRCm39) Y132C probably damaging Het
Dppa2 T C 16: 48,137,666 (GRCm39) V216A probably damaging Het
Ect2l A T 10: 18,020,325 (GRCm39) N598K probably benign Het
Eif3c T C 7: 126,162,238 (GRCm39) T195A probably benign Het
Epg5 T C 18: 78,058,895 (GRCm39) V1883A probably damaging Het
Ino80c T A 18: 24,241,935 (GRCm39) D150V probably benign Het
Kcnb1 T A 2: 166,947,864 (GRCm39) Y328F probably damaging Het
Kcnj3 G A 2: 55,337,059 (GRCm39) probably null Het
Ncor1 T G 11: 62,240,290 (GRCm39) S894R probably damaging Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Nudt19 T C 7: 35,254,650 (GRCm39) T194A probably benign Het
Or1j4 A T 2: 36,740,156 (GRCm39) T33S probably benign Het
Pappa2 T A 1: 158,784,703 (GRCm39) R102S probably benign Het
Pik3c2a T C 7: 115,950,021 (GRCm39) N1332S probably benign Het
Plppr1 T A 4: 49,319,800 (GRCm39) V142E possibly damaging Het
Prdm6 C A 18: 53,598,110 (GRCm39) probably benign Het
Prm2 T A 16: 10,609,732 (GRCm39) probably benign Het
Prmt3 T C 7: 49,435,883 (GRCm39) S155P possibly damaging Het
Rars2 T C 4: 34,656,793 (GRCm39) Y481H probably benign Het
Rgs2 G A 1: 143,877,437 (GRCm39) T206M probably benign Het
Slc2a8 C T 2: 32,871,785 (GRCm39) R56H probably damaging Het
Spmip11 C A 15: 98,483,148 (GRCm39) probably null Het
Stk35 T A 2: 129,652,855 (GRCm39) M452K probably damaging Het
Tcf3 G A 10: 80,251,071 (GRCm39) H454Y probably damaging Het
Tgm3 C T 2: 129,890,202 (GRCm39) S655F possibly damaging Het
Tssc4 T G 7: 142,623,770 (GRCm39) L26R probably damaging Het
Utp11 A T 4: 124,572,695 (GRCm39) probably benign Het
Vmn1r237 C G 17: 21,534,688 (GRCm39) A137G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps8 T C 16: 21,378,103 (GRCm39) L1038P probably damaging Het
Wipf3 C T 6: 54,462,660 (GRCm39) A290V probably damaging Het
Zdhhc25 T G 15: 88,485,259 (GRCm39) L198R probably damaging Het
Zdhhc6 A T 19: 55,302,998 (GRCm39) M1K probably null Het
Other mutations in Or8b53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Or8b53 APN 9 38,667,550 (GRCm39) missense probably damaging 1.00
IGL01728:Or8b53 APN 9 38,667,391 (GRCm39) missense possibly damaging 0.63
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
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
Predicted Primers PCR Primer
(F):5'- TGTCGTTCTGTGATGGCAAC -3'
(R):5'- ACTTTAGGACCAGGAAAGTGTTTTC -3'

Sequencing Primer
(F):5'- GGCAACATCATCAACCACTATTTCTG -3'
(R):5'- CTCAAAGTTTTTCTCAAGGCAAC -3'
Posted On 2016-06-21