Incidental Mutation 'IGL01129:Or6b9'
ID 51613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6b9
Ensembl Gene ENSMUSG00000036647
Gene Name olfactory receptor family 6 subfamily B member 9
Synonyms MOR103-16, M50, GA_x6K02T2PBJ9-9337331-9336381, Olfr6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01129
Quality Score
Status
Chromosome 7
Chromosomal Location 106555191-106556141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106555634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 170 (N170D)
Ref Sequence ENSEMBL: ENSMUSP00000151272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040983] [ENSMUST00000213552] [ENSMUST00000213651] [ENSMUST00000219365]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040983
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048740
Gene: ENSMUSG00000036647
AA Change: N170D

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 1.5e-58 PFAM
Pfam:7tm_1 39 288 3.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209125
Predicted Effect probably damaging
Transcript: ENSMUST00000213552
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213651
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219365
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik A T X: 66,964,210 (GRCm39) F216L possibly damaging Het
Bace2 T G 16: 97,209,630 (GRCm39) N181K probably damaging Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ckap2 C T 8: 22,659,774 (GRCm39) G569D probably damaging Het
Col11a1 T C 3: 113,979,522 (GRCm39) probably benign Het
Col1a2 G A 6: 4,535,846 (GRCm39) D939N unknown Het
Creb3l2 A T 6: 37,330,569 (GRCm39) probably benign Het
Cuedc1 T A 11: 88,074,080 (GRCm39) S205T possibly damaging Het
Cux1 G A 5: 136,333,572 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,035,089 (GRCm39) M256V probably benign Het
Gzf1 C A 2: 148,532,916 (GRCm39) P690Q probably damaging Het
Lrch3 T A 16: 32,815,335 (GRCm39) D575E probably benign Het
Lypd3 A G 7: 24,340,018 (GRCm39) M362V probably benign Het
Mppe1 C A 18: 67,370,515 (GRCm39) G61* probably null Het
Nr2c2 T A 6: 92,135,397 (GRCm39) D328E probably benign Het
Pfn4 T A 12: 4,825,505 (GRCm39) V114E probably damaging Het
Rab14 T C 2: 35,073,398 (GRCm39) probably benign Het
Slc30a9 G T 5: 67,499,486 (GRCm39) G315C probably damaging Het
Spag16 A T 1: 69,935,681 (GRCm39) S303C probably benign Het
Spata16 C T 3: 26,967,333 (GRCm39) probably benign Het
Srcap T C 7: 127,120,823 (GRCm39) V161A probably damaging Het
Srd5a3 A G 5: 76,297,593 (GRCm39) probably benign Het
Vmn1r18 A T 6: 57,367,482 (GRCm39) F24Y probably benign Het
Vmn1r78 A T 7: 11,887,165 (GRCm39) T259S probably benign Het
Zc3h13 G A 14: 75,573,439 (GRCm39) D1527N probably damaging Het
Other mutations in Or6b9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Or6b9 APN 7 106,555,763 (GRCm39) missense probably damaging 1.00
IGL02556:Or6b9 APN 7 106,555,598 (GRCm39) missense possibly damaging 0.82
R1550:Or6b9 UTSW 7 106,555,235 (GRCm39) missense probably benign
R1883:Or6b9 UTSW 7 106,555,981 (GRCm39) missense probably benign 0.42
R2069:Or6b9 UTSW 7 106,555,494 (GRCm39) nonsense probably null
R2250:Or6b9 UTSW 7 106,555,580 (GRCm39) missense probably benign 0.00
R2279:Or6b9 UTSW 7 106,555,834 (GRCm39) missense probably benign 0.00
R5283:Or6b9 UTSW 7 106,555,955 (GRCm39) missense probably benign 0.00
R9700:Or6b9 UTSW 7 106,555,630 (GRCm39) missense probably benign 0.12
R9733:Or6b9 UTSW 7 106,555,846 (GRCm39) missense possibly damaging 0.94
Posted On 2013-06-21