Incidental Mutation 'R9071:Or8b43'
ID 689541
Institutional Source Beutler Lab
Gene Symbol Or8b43
Ensembl Gene ENSMUSG00000049334
Gene Name olfactory receptor family 8 subfamily B member 43
Synonyms GA_x6K02T2PVTD-32141623-32142552, MOR169-1, Olfr902
MMRRC Submission 068893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R9071 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38360088-38361143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38361032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 288 (I288T)
Ref Sequence ENSEMBL: ENSMUSP00000151061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050733] [ENSMUST00000213105]
AlphaFold E9Q6Z7
Predicted Effect possibly damaging
Transcript: ENSMUST00000050733
AA Change: I288T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055975
Gene: ENSMUSG00000049334
AA Change: I288T

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-48 PFAM
Pfam:7tm_1 41 289 1.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213105
AA Change: I288T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G T 7: 41,274,783 (GRCm39) R162L probably benign Het
Alpi A G 1: 87,026,584 (GRCm39) V469A probably damaging Het
Amotl2 G T 9: 102,595,892 (GRCm39) probably benign Het
Ano3 T A 2: 110,625,418 (GRCm39) probably null Het
Atg16l1 G T 1: 87,683,907 (GRCm39) probably benign Het
Atg2b C A 12: 105,625,099 (GRCm39) E626* probably null Het
B3galt9 T C 2: 34,728,435 (GRCm39) V78A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ccdc162 G A 10: 41,457,174 (GRCm39) Q1588* probably null Het
Cd3d A T 9: 44,896,340 (GRCm39) H43L probably benign Het
Cenpk C T 13: 104,378,870 (GRCm39) Q164* probably null Het
Clybl C A 14: 122,608,697 (GRCm39) D96E probably benign Het
Cog1 T C 11: 113,546,939 (GRCm39) V511A probably damaging Het
Crhr1 T A 11: 104,064,133 (GRCm39) I282N probably damaging Het
Crybg2 A G 4: 133,818,542 (GRCm39) N1433D probably damaging Het
Cspp1 A T 1: 10,159,121 (GRCm39) I516F possibly damaging Het
Cul9 T C 17: 46,837,379 (GRCm39) T1030A probably benign Het
Cyp2d10 T C 15: 82,288,361 (GRCm39) T313A probably damaging Het
Ddx11 T A 17: 66,450,736 (GRCm39) N549K probably damaging Het
Ddx41 A G 13: 55,680,219 (GRCm39) V391A probably damaging Het
Eif3a T C 19: 60,751,634 (GRCm39) D1227G unknown Het
Fam83f T C 15: 80,576,206 (GRCm39) Y286H probably damaging Het
Fasn T C 11: 120,708,324 (GRCm39) D647G probably damaging Het
Fat4 T C 3: 39,037,598 (GRCm39) V3750A probably benign Het
Golga2 T C 2: 32,178,364 (GRCm39) S14P probably damaging Het
Hgsnat A G 8: 26,436,302 (GRCm39) V584A possibly damaging Het
Ifi207 A T 1: 173,557,764 (GRCm39) F325I unknown Het
Igfals A T 17: 25,099,670 (GRCm39) I254F probably damaging Het
Matr3 T C 18: 35,705,803 (GRCm39) Y243H possibly damaging Het
Mki67 G C 7: 135,301,205 (GRCm39) D1276E probably benign Het
Moap1 T A 12: 102,709,364 (GRCm39) K62* probably null Het
Msto1 C A 3: 88,812,414 (GRCm39) probably benign Het
Myt1 A T 2: 181,448,420 (GRCm39) D697V possibly damaging Het
Nampt T A 12: 32,892,781 (GRCm39) V356E probably damaging Het
Nell2 T A 15: 95,244,682 (GRCm39) K472* probably null Het
Nfe2l3 A C 6: 51,434,243 (GRCm39) S268R probably benign Het
Osbpl10 G T 9: 114,890,908 (GRCm39) V99L probably benign Het
Plod2 A G 9: 92,485,048 (GRCm39) I537M probably benign Het
Prdm4 A G 10: 85,729,076 (GRCm39) L770P probably benign Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Scaper T C 9: 55,771,803 (GRCm39) D371G probably benign Het
Sema3e A G 5: 14,282,154 (GRCm39) K430R probably benign Het
Sez6l A T 5: 112,573,603 (GRCm39) probably benign Het
Slco1a5 A T 6: 142,196,052 (GRCm39) I317N possibly damaging Het
Spata4 T G 8: 55,055,742 (GRCm39) F211C probably damaging Het
Sspo A G 6: 48,433,982 (GRCm39) E929G probably benign Het
Sult1e1 A C 5: 87,735,681 (GRCm39) probably benign Het
Tas2r125 A T 6: 132,887,400 (GRCm39) N263Y probably benign Het
Ugt3a1 T A 15: 9,370,224 (GRCm39) L456* probably null Het
Wdr20rt G A 12: 65,274,222 (GRCm39) V562I probably benign Het
Zc3h7b T C 15: 81,677,964 (GRCm39) *983Q probably null Het
Zfp28 T A 7: 6,397,544 (GRCm39) C660S probably damaging Het
Other mutations in Or8b43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01738:Or8b43 APN 9 38,360,942 (GRCm39) missense probably damaging 0.97
IGL02149:Or8b43 APN 9 38,360,693 (GRCm39) missense probably damaging 0.97
IGL02869:Or8b43 APN 9 38,360,489 (GRCm39) missense possibly damaging 0.75
IGL02945:Or8b43 APN 9 38,360,812 (GRCm39) missense probably benign 0.00
IGL03269:Or8b43 APN 9 38,360,197 (GRCm39) missense probably benign 0.13
R1955:Or8b43 UTSW 9 38,360,984 (GRCm39) missense probably benign 0.13
R2182:Or8b43 UTSW 9 38,360,420 (GRCm39) missense probably benign 0.21
R2864:Or8b43 UTSW 9 38,360,684 (GRCm39) missense possibly damaging 0.89
R4423:Or8b43 UTSW 9 38,360,662 (GRCm39) missense probably benign 0.03
R4938:Or8b43 UTSW 9 38,360,679 (GRCm39) missense probably benign 0.10
R5537:Or8b43 UTSW 9 38,360,538 (GRCm39) nonsense probably null
R6645:Or8b43 UTSW 9 38,360,219 (GRCm39) missense probably damaging 1.00
R6861:Or8b43 UTSW 9 38,360,731 (GRCm39) missense probably damaging 1.00
R6951:Or8b43 UTSW 9 38,360,234 (GRCm39) missense probably benign 0.00
R7568:Or8b43 UTSW 9 38,360,942 (GRCm39) missense probably damaging 1.00
R9002:Or8b43 UTSW 9 38,360,171 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- GTAGGTCCAAAGCCTTCAGC -3'
(R):5'- AGAGACACAGGCTTCTTTTATCG -3'

Sequencing Primer
(F):5'- GCCTTCAGCACCTGCAG -3'
(R):5'- AGGCTTCTTTTATCGTTATATCATGC -3'
Posted On 2021-11-19