Incidental Mutation 'IGL01809:Or8b12i'
ID 155756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b12i
Ensembl Gene ENSMUSG00000066899
Gene Name olfactory receptor family 8 subfamily B member 12I
Synonyms GA_x6K02T2PVTD-13912679-13911744, MOR141-1, Olfr870
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01809
Quality Score
Status
Chromosome 9
Chromosomal Location 20081930-20082865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20082591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 92 (I92T)
Ref Sequence ENSEMBL: ENSMUSP00000150084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086476] [ENSMUST00000215984]
AlphaFold Q8VGG4
Predicted Effect probably damaging
Transcript: ENSMUST00000086476
AA Change: I92T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: I92T

DomainStartEndE-ValueType
Pfam:7tm_4 31 311 1.8e-52 PFAM
Pfam:7TM_GPCR_Srsx 35 304 1.8e-7 PFAM
Pfam:7tm_1 41 290 3.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157618
Predicted Effect probably damaging
Transcript: ENSMUST00000215984
AA Change: I92T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,240,339 (GRCm39) N734I probably damaging Het
Abi1 T C 2: 22,836,729 (GRCm39) I371V probably benign Het
Atp8b3 A G 10: 80,355,845 (GRCm39) F1289S probably benign Het
Brca2 T A 5: 150,454,526 (GRCm39) probably null Het
C8a A T 4: 104,703,139 (GRCm39) I306N probably benign Het
Crybg3 G T 16: 59,345,216 (GRCm39) probably benign Het
Disp2 T A 2: 118,617,745 (GRCm39) probably benign Het
Dtl A G 1: 191,280,415 (GRCm39) F373S probably damaging Het
Dynlt1a G A 17: 6,361,147 (GRCm39) probably null Het
Dyrk1a G A 16: 94,460,476 (GRCm39) R44H probably benign Het
Fam114a2 C T 11: 57,404,461 (GRCm39) probably null Het
Fsip2 A G 2: 82,808,691 (GRCm39) E1670G possibly damaging Het
Gbp10 A T 5: 105,365,225 (GRCm39) N594K probably benign Het
Gpam T A 19: 55,064,057 (GRCm39) K679* probably null Het
Gtf2i A T 5: 134,278,804 (GRCm39) V524E probably damaging Het
Itpr2 T A 6: 146,129,079 (GRCm39) E2011D probably damaging Het
Jag1 C A 2: 136,957,404 (GRCm39) G103W probably damaging Het
Klkb1 A T 8: 45,729,090 (GRCm39) V378E probably benign Het
Lyst T A 13: 13,812,388 (GRCm39) S933R probably damaging Het
Man2b2 T C 5: 36,971,860 (GRCm39) S619G probably benign Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Mtf2 A G 5: 108,235,191 (GRCm39) I36V probably benign Het
Nckipsd T C 9: 108,694,753 (GRCm39) Y652H probably damaging Het
Or5ak24 A G 2: 85,260,498 (GRCm39) L225P probably damaging Het
Or5w13 T C 2: 87,524,089 (GRCm39) I46V possibly damaging Het
Or8g53 A T 9: 39,683,990 (GRCm39) Y35* probably null Het
Phykpl T C 11: 51,490,351 (GRCm39) F411L probably benign Het
Rbm8a T A 3: 96,538,853 (GRCm39) F101I probably damaging Het
Rbp3 G T 14: 33,677,257 (GRCm39) G402W probably damaging Het
Recql4 G A 15: 76,593,070 (GRCm39) R254* probably null Het
Rsph14 G A 10: 74,793,618 (GRCm39) probably benign Het
Stau2 A T 1: 16,510,539 (GRCm39) probably null Het
Tmprss11c G A 5: 86,385,521 (GRCm39) S304L possibly damaging Het
Vipr1 T G 9: 121,490,506 (GRCm39) M184R possibly damaging Het
Zfp106 G A 2: 120,364,152 (GRCm39) R752C probably damaging Het
Other mutations in Or8b12i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Or8b12i APN 9 20,082,826 (GRCm39) missense probably damaging 1.00
IGL02130:Or8b12i APN 9 20,082,654 (GRCm39) missense probably damaging 0.96
IGL03062:Or8b12i APN 9 20,082,463 (GRCm39) missense probably damaging 1.00
IGL03133:Or8b12i APN 9 20,082,009 (GRCm39) missense probably damaging 1.00
R0110:Or8b12i UTSW 9 20,082,561 (GRCm39) missense probably benign 0.04
R0350:Or8b12i UTSW 9 20,082,032 (GRCm39) nonsense probably null
R0417:Or8b12i UTSW 9 20,082,510 (GRCm39) missense probably damaging 1.00
R0450:Or8b12i UTSW 9 20,082,561 (GRCm39) missense probably benign 0.04
R0469:Or8b12i UTSW 9 20,082,561 (GRCm39) missense probably benign 0.04
R1169:Or8b12i UTSW 9 20,082,354 (GRCm39) missense probably benign 0.04
R1728:Or8b12i UTSW 9 20,082,209 (GRCm39) nonsense probably null
R1729:Or8b12i UTSW 9 20,082,209 (GRCm39) nonsense probably null
R1776:Or8b12i UTSW 9 20,082,105 (GRCm39) missense probably benign 0.16
R1784:Or8b12i UTSW 9 20,082,209 (GRCm39) nonsense probably null
R1914:Or8b12i UTSW 9 20,082,324 (GRCm39) missense probably benign 0.22
R1915:Or8b12i UTSW 9 20,082,324 (GRCm39) missense probably benign 0.22
R1929:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R1936:Or8b12i UTSW 9 20,082,477 (GRCm39) missense probably damaging 1.00
R2066:Or8b12i UTSW 9 20,082,850 (GRCm39) missense probably benign 0.01
R2137:Or8b12i UTSW 9 20,082,463 (GRCm39) missense probably damaging 1.00
R2221:Or8b12i UTSW 9 20,082,388 (GRCm39) missense possibly damaging 0.86
R2270:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R2271:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R2272:Or8b12i UTSW 9 20,082,705 (GRCm39) missense possibly damaging 0.73
R2509:Or8b12i UTSW 9 20,082,525 (GRCm39) missense probably damaging 1.00
R2939:Or8b12i UTSW 9 20,082,061 (GRCm39) missense probably benign
R2940:Or8b12i UTSW 9 20,082,061 (GRCm39) missense probably benign
R3081:Or8b12i UTSW 9 20,082,061 (GRCm39) missense probably benign
R4579:Or8b12i UTSW 9 20,082,410 (GRCm39) missense probably damaging 1.00
R4667:Or8b12i UTSW 9 20,082,394 (GRCm39) missense probably benign 0.04
R5681:Or8b12i UTSW 9 20,082,091 (GRCm39) missense probably damaging 1.00
R5686:Or8b12i UTSW 9 20,082,265 (GRCm39) missense possibly damaging 0.75
R5857:Or8b12i UTSW 9 20,082,535 (GRCm39) missense probably damaging 1.00
R6561:Or8b12i UTSW 9 20,082,073 (GRCm39) missense probably benign 0.01
R6842:Or8b12i UTSW 9 20,082,549 (GRCm39) missense possibly damaging 0.95
R6987:Or8b12i UTSW 9 20,082,130 (GRCm39) missense probably benign 0.03
R7641:Or8b12i UTSW 9 20,082,549 (GRCm39) missense possibly damaging 0.95
R7674:Or8b12i UTSW 9 20,082,549 (GRCm39) missense possibly damaging 0.95
R8375:Or8b12i UTSW 9 20,082,037 (GRCm39) missense probably benign 0.04
R8445:Or8b12i UTSW 9 20,082,394 (GRCm39) missense probably benign 0.01
R9489:Or8b12i UTSW 9 20,082,093 (GRCm39) missense probably damaging 1.00
R9605:Or8b12i UTSW 9 20,082,093 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04