Incidental Mutation 'IGL02149:Or8b43'
ID 281887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b43
Ensembl Gene ENSMUSG00000049334
Gene Name olfactory receptor family 8 subfamily B member 43
Synonyms GA_x6K02T2PVTD-32141623-32142552, MOR169-1, Olfr902
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02149
Quality Score
Status
Chromosome 9
Chromosomal Location 38360088-38361143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38360693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 175 (H175R)
Ref Sequence ENSEMBL: ENSMUSP00000151061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050733] [ENSMUST00000213105]
AlphaFold E9Q6Z7
Predicted Effect probably damaging
Transcript: ENSMUST00000050733
AA Change: H175R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055975
Gene: ENSMUSG00000049334
AA Change: H175R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-48 PFAM
Pfam:7tm_1 41 289 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213105
AA Change: H175R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,610,713 (GRCm39) H67L probably damaging Het
Adgrb1 C T 15: 74,412,326 (GRCm39) T435I probably damaging Het
Adgrd1 T A 5: 129,256,325 (GRCm39) F652Y probably damaging Het
Adgrl4 T A 3: 151,205,991 (GRCm39) F250Y possibly damaging Het
Aebp2 C T 6: 140,588,010 (GRCm39) A360V probably benign Het
AW551984 A C 9: 39,504,220 (GRCm39) M582R probably benign Het
B430306N03Rik T C 17: 48,624,020 (GRCm39) V107A probably benign Het
Cage1 T C 13: 38,206,505 (GRCm39) N447D probably damaging Het
Col17a1 T C 19: 47,657,071 (GRCm39) D524G probably benign Het
Dpp6 A T 5: 27,743,022 (GRCm39) I218F probably benign Het
Ep300 T G 15: 81,512,621 (GRCm39) probably benign Het
Ephb2 C T 4: 136,421,225 (GRCm39) C375Y probably damaging Het
Fastk A G 5: 24,649,051 (GRCm39) V112A probably damaging Het
Fbxo11 T A 17: 88,301,187 (GRCm39) R775S possibly damaging Het
Fbxw20 A G 9: 109,062,886 (GRCm39) probably null Het
Hamp2 G T 7: 30,622,122 (GRCm39) A50E probably damaging Het
Il22b C A 10: 118,130,902 (GRCm39) probably benign Het
Ints1 G A 5: 139,737,715 (GRCm39) R2139C probably damaging Het
Itgae T A 11: 72,994,720 (GRCm39) V24E probably benign Het
Jakmip3 G A 7: 138,609,075 (GRCm39) V60M possibly damaging Het
Kcnk10 A C 12: 98,485,099 (GRCm39) probably benign Het
Klra1 A T 6: 130,352,293 (GRCm39) C150S probably damaging Het
Lhx9 A T 1: 138,759,172 (GRCm39) V376E probably damaging Het
Mdm1 T A 10: 117,983,970 (GRCm39) F199I probably damaging Het
Nipal3 G T 4: 135,194,163 (GRCm39) T290K possibly damaging Het
Obsl1 C T 1: 75,480,464 (GRCm39) E387K probably damaging Het
Oxct1 A G 15: 4,120,711 (GRCm39) Y265C probably damaging Het
Pccb G A 9: 100,867,243 (GRCm39) H411Y probably damaging Het
Pkp1 A G 1: 135,814,485 (GRCm39) S279P probably benign Het
Prdm14 C A 1: 13,195,663 (GRCm39) G133C probably benign Het
Prkaa2 A T 4: 104,897,285 (GRCm39) N309K probably benign Het
Shc2 T C 10: 79,458,102 (GRCm39) D527G probably damaging Het
Shkbp1 C T 7: 27,042,064 (GRCm39) probably benign Het
Skil T C 3: 31,151,856 (GRCm39) V126A possibly damaging Het
Slc25a36 A T 9: 96,975,122 (GRCm39) probably benign Het
Slc2a13 T C 15: 91,227,924 (GRCm39) T423A probably benign Het
Spty2d1 A G 7: 46,657,892 (GRCm39) probably benign Het
Stag1 A G 9: 100,769,442 (GRCm39) D519G probably benign Het
Tmprss2 G T 16: 97,400,479 (GRCm39) probably benign Het
Trim66 G T 7: 109,060,109 (GRCm39) T759K possibly damaging Het
Trpc4ap C A 2: 155,481,467 (GRCm39) A530S probably damaging Het
Ttn A T 2: 76,642,099 (GRCm39) D11625E probably damaging Het
Ube4b T C 4: 149,483,141 (GRCm39) I42M possibly damaging Het
Ubxn10 A G 4: 138,448,584 (GRCm39) S31P probably benign Het
Ubxn7 A G 16: 32,194,088 (GRCm39) Y220C probably damaging Het
Vmn1r234 A G 17: 21,449,269 (GRCm39) Y61C probably benign Het
Other mutations in Or8b43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01738:Or8b43 APN 9 38,360,942 (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
R9071:Or8b43 UTSW 9 38,361,032 (GRCm39) missense possibly damaging 0.52
Posted On 2015-04-16