Incidental Mutation 'R6951:Or8b43'
ID 541271
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 045063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6951 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38360088-38361143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38360234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 22 (D22G)
Ref Sequence ENSEMBL: ENSMUSP00000151061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050733] [ENSMUST00000213105]
AlphaFold E9Q6Z7
Predicted Effect probably benign
Transcript: ENSMUST00000050733
AA Change: D22G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000055975
Gene: ENSMUSG00000049334
AA Change: D22G

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-48 PFAM
Pfam:7tm_1 41 289 1.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213105
AA Change: D22G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34a A G 3: 96,505,738 (GRCm39) N314S possibly damaging Het
Arhgef3 A T 14: 26,865,975 (GRCm39) probably benign Het
Bmp1 T C 14: 70,746,298 (GRCm39) R114G probably benign Het
Cenpf A G 1: 189,385,989 (GRCm39) L2097P probably damaging Het
Cgas A G 9: 78,349,840 (GRCm39) V174A probably damaging Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnase2a A T 8: 85,636,254 (GRCm39) N130I possibly damaging Het
Dpp10 C T 1: 123,269,379 (GRCm39) V677M possibly damaging Het
Dsp G A 13: 38,351,622 (GRCm39) C147Y possibly damaging Het
Ecpas A G 4: 58,853,114 (GRCm39) probably null Het
Esyt2 A G 12: 116,287,750 (GRCm39) T223A probably benign Het
Fndc5 G A 4: 129,032,573 (GRCm39) V59I possibly damaging Het
Fsip2 A G 2: 82,812,293 (GRCm39) T2871A possibly damaging Het
H2-Eb1 A T 17: 34,528,831 (GRCm39) R121* probably null Het
Hydin A G 8: 111,124,757 (GRCm39) I589V probably benign Het
Kitl A G 10: 99,887,714 (GRCm39) I48V probably damaging Het
Large1 A G 8: 73,843,047 (GRCm39) S159P probably damaging Het
Lrba T C 3: 86,653,180 (GRCm39) L2570P probably benign Het
Mag G A 7: 30,610,858 (GRCm39) T128I possibly damaging Het
Mkrn3 G T 7: 62,068,881 (GRCm39) D303E possibly damaging Het
Myo9a A G 9: 59,802,051 (GRCm39) D1951G probably damaging Het
Nup85 C T 11: 115,473,781 (GRCm39) T565I possibly damaging Het
Or5l13 T C 2: 87,780,323 (GRCm39) I85V possibly damaging Het
Or8b1d A G 9: 38,558,170 (GRCm39) S217P probably damaging Het
Or8k31-ps1 T C 2: 86,355,993 (GRCm39) H176R probably damaging Het
Pdzrn3 A T 6: 101,131,153 (GRCm39) probably null Het
Picalm T A 7: 89,840,583 (GRCm39) N434K probably damaging Het
Platr25 A C 13: 62,853,562 (GRCm39) D77E probably benign Het
Prr22 A T 17: 57,079,028 (GRCm39) R394* probably null Het
Psg23 A T 7: 18,348,636 (GRCm39) L57Q probably damaging Het
Rap1gap2 G A 11: 74,375,774 (GRCm39) S44L possibly damaging Het
Rffl A G 11: 82,736,576 (GRCm39) probably null Het
Stox2 G A 8: 47,656,167 (GRCm39) T103I probably damaging Het
Swt1 T C 1: 151,273,019 (GRCm39) N543S possibly damaging Het
Tep1 C T 14: 51,071,370 (GRCm39) probably null Het
Tln2 A G 9: 67,165,767 (GRCm39) Y1023H probably damaging Het
Tssk5 C A 15: 76,257,096 (GRCm39) R262L possibly damaging Het
Ttn C T 2: 76,710,986 (GRCm39) probably benign Het
Ubtfl1 A T 9: 18,320,873 (GRCm39) I134F probably benign Het
Unc80 T C 1: 66,687,670 (GRCm39) F2351S possibly damaging Het
Vps13a A T 19: 16,701,104 (GRCm39) D688E probably benign 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
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
R9071:Or8b43 UTSW 9 38,361,032 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TGCTTGCAACTACAACAACTGC -3'
(R):5'- GCATATAGGAAATGGCATTCTGTC -3'

Sequencing Primer
(F):5'- CAACTGCTTCTGTAGAAATAGTGGG -3'
(R):5'- CAACATTTTTGGAGTGAACACAG -3'
Posted On 2018-11-28