Incidental Mutation 'IGL03062:Or8b12i'
ID 409483
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 # IGL03062
Quality Score
Status
Chromosome 9
Chromosomal Location 20081930-20082865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20082463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 135 (I135F)
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: I135F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: I135F

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: I135F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Efhd1 T C 1: 87,192,406 (GRCm39) F79L possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Lyrm1 T C 7: 119,515,354 (GRCm39) probably benign Het
Med28 G A 5: 45,679,811 (GRCm39) V65I probably damaging Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sars2 T A 7: 28,446,206 (GRCm39) I145N possibly damaging Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Socs6 A T 18: 88,887,970 (GRCm39) M315K probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y probably damaging Het
Other mutations in Or8b12i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Or8b12i APN 9 20,082,826 (GRCm39) missense probably damaging 1.00
IGL01809:Or8b12i APN 9 20,082,591 (GRCm39) missense probably damaging 1.00
IGL02130:Or8b12i APN 9 20,082,654 (GRCm39) missense probably damaging 0.96
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 2016-08-02