Incidental Mutation 'IGL00743:Or8g2b'
ID 12860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8g2b
Ensembl Gene ENSMUSG00000093934
Gene Name olfactory receptor family 8 subfamily G member 2B
Synonyms GA_x6K02T2PVTD-33539896-33540819, MOR171-13, Olfr971
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL00743
Quality Score
Status
Chromosome 9
Chromosomal Location 39750732-39751655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39751002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 91 (I91F)
Ref Sequence ENSEMBL: ENSMUSP00000148850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075467] [ENSMUST00000214242]
AlphaFold Q9EQ96
Predicted Effect probably benign
Transcript: ENSMUST00000075467
AA Change: I91F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: I91F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.6e-53 PFAM
Pfam:7tm_1 41 290 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214242
AA Change: I91F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,461,606 (GRCm39) E659G probably benign Het
Adgrg6 A C 10: 14,411,703 (GRCm39) probably benign Het
Als2cl A G 9: 110,718,227 (GRCm39) K323E possibly damaging Het
Atm A C 9: 53,424,416 (GRCm39) S628R probably benign Het
Baz2a T C 10: 127,950,395 (GRCm39) V443A probably benign Het
Bclaf3 T A X: 158,341,357 (GRCm39) F545Y probably benign Het
Calcr T C 6: 3,717,196 (GRCm39) Y88C probably damaging Het
Ccdc178 C T 18: 22,278,501 (GRCm39) probably benign Het
Cdh20 A G 1: 104,875,153 (GRCm39) T312A probably benign Het
Chrnd G A 1: 87,120,649 (GRCm39) W91* probably null Het
Cntln T C 4: 84,897,652 (GRCm39) F413S probably benign Het
Ctsq A T 13: 61,183,998 (GRCm39) I308N probably damaging Het
Cyp2d34 A T 15: 82,501,736 (GRCm39) V258D probably damaging Het
Dnajc13 G A 9: 104,039,979 (GRCm39) P2044S probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hps6 A T 19: 45,992,099 (GRCm39) D12V probably damaging Het
Hpse T C 5: 100,846,865 (GRCm39) D188G probably benign Het
Id2 C A 12: 25,145,355 (GRCm39) E123* probably null Het
Ints10 C T 8: 69,271,985 (GRCm39) P562L probably damaging Het
Kctd10 G A 5: 114,505,410 (GRCm39) R195C probably damaging Het
Kel A C 6: 41,665,509 (GRCm39) L537R probably damaging Het
Kif19a T C 11: 114,675,599 (GRCm39) V357A probably damaging Het
Lrrtm3 A T 10: 63,924,988 (GRCm39) S60T probably damaging Het
Myof C A 19: 37,949,382 (GRCm39) R608L probably benign Het
Naa35 A T 13: 59,778,485 (GRCm39) I669F probably benign Het
Or8g53 A G 9: 39,683,407 (GRCm39) S230P possibly damaging Het
Pclo G T 5: 14,728,035 (GRCm39) probably benign Het
Pik3c3 C T 18: 30,407,417 (GRCm39) S55F probably damaging Het
Prdm6 T G 18: 53,673,300 (GRCm39) D153E possibly damaging Het
Rnf183 T C 4: 62,346,610 (GRCm39) T63A probably benign Het
Samd4b A C 7: 28,101,302 (GRCm39) I108S probably damaging Het
Slc9a7 T C X: 19,972,260 (GRCm39) D708G possibly damaging Het
Stim2 A G 5: 54,210,835 (GRCm39) D90G probably benign Het
Tmem52b A G 6: 129,493,678 (GRCm39) D97G probably damaging Het
Tnfsf15 T C 4: 63,652,518 (GRCm39) R98G probably benign Het
Uxs1 C T 1: 43,796,173 (GRCm39) V310I probably benign Het
Vcan A C 13: 89,873,425 (GRCm39) M143R probably damaging Het
Vmn2r93 T C 17: 18,546,504 (GRCm39) F792S probably damaging Het
Zfp455 T C 13: 67,355,962 (GRCm39) I345T probably benign Het
Zfp938 A T 10: 82,062,317 (GRCm39) M101K probably benign Het
Zkscan2 A G 7: 123,079,195 (GRCm39) S921P probably damaging Het
Other mutations in Or8g2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Or8g2b APN 9 39,751,230 (GRCm39) missense probably benign
IGL01759:Or8g2b APN 9 39,750,907 (GRCm39) missense probably damaging 0.99
IGL02867:Or8g2b APN 9 39,751,533 (GRCm39) missense probably benign 0.03
IGL02889:Or8g2b APN 9 39,751,533 (GRCm39) missense probably benign 0.03
IGL02900:Or8g2b APN 9 39,751,108 (GRCm39) missense probably damaging 1.00
IGL03333:Or8g2b APN 9 39,751,308 (GRCm39) missense probably damaging 0.98
R0831:Or8g2b UTSW 9 39,751,579 (GRCm39) missense probably damaging 1.00
R1004:Or8g2b UTSW 9 39,751,276 (GRCm39) missense probably benign 0.21
R1711:Or8g2b UTSW 9 39,751,581 (GRCm39) missense probably benign 0.39
R3900:Or8g2b UTSW 9 39,750,698 (GRCm39) splice site probably null
R4424:Or8g2b UTSW 9 39,751,652 (GRCm39) missense possibly damaging 0.52
R4530:Or8g2b UTSW 9 39,751,379 (GRCm39) missense probably benign
R5385:Or8g2b UTSW 9 39,751,126 (GRCm39) missense possibly damaging 0.95
R5386:Or8g2b UTSW 9 39,751,126 (GRCm39) missense possibly damaging 0.95
R7199:Or8g2b UTSW 9 39,750,753 (GRCm39) missense probably benign
R7849:Or8g2b UTSW 9 39,751,618 (GRCm39) missense possibly damaging 0.59
R8193:Or8g2b UTSW 9 39,750,757 (GRCm39) missense probably benign 0.00
R8342:Or8g2b UTSW 9 39,751,612 (GRCm39) missense probably damaging 1.00
R8474:Or8g2b UTSW 9 39,751,048 (GRCm39) missense possibly damaging 0.85
R8851:Or8g2b UTSW 9 39,751,600 (GRCm39) missense probably damaging 1.00
R9079:Or8g2b UTSW 9 39,750,769 (GRCm39) missense probably benign 0.07
Posted On 2012-12-06