Incidental Mutation 'IGL02470:Or8k39'
ID 294690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k39
Ensembl Gene ENSMUSG00000111711
Gene Name olfactory receptor family 8 subfamily K member 39
Synonyms Olfr1089, MOR193-1, GA_x6K02T2Q125-48226321-48225386
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # IGL02470
Quality Score
Status
Chromosome 2
Chromosomal Location 86563019-86563954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86563929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 9 (V9E)
Ref Sequence ENSEMBL: ENSMUSP00000149509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214317]
AlphaFold A0A1L1SRK6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099876
AA Change: V9E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: V9E

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 4.7e-47 PFAM
Pfam:7tm_1 41 290 2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214317
AA Change: V9E

PolyPhen 2 Score 0.970 (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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A G 1: 165,395,295 (GRCm39) Y1422C probably damaging Het
Adnp T A 2: 168,025,114 (GRCm39) K727I probably damaging Het
Akr1c21 A T 13: 4,627,406 (GRCm39) N167Y probably damaging Het
Arl4a T C 12: 40,086,747 (GRCm39) probably benign Het
BB014433 A T 8: 15,092,803 (GRCm39) F17I unknown Het
Best1 T C 19: 9,970,340 (GRCm39) S91G probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dcc A T 18: 72,088,153 (GRCm39) probably benign Het
Dnajc13 G A 9: 104,052,946 (GRCm39) T1672I probably benign Het
Elf3 A T 1: 135,182,750 (GRCm39) F325Y probably damaging Het
Enpp2 A G 15: 54,702,856 (GRCm39) L880P probably damaging Het
Fndc3b A G 3: 27,515,869 (GRCm39) Y646H probably damaging Het
Fzd6 A T 15: 38,899,952 (GRCm39) probably benign Het
Gnb1 T A 4: 155,611,970 (GRCm39) probably benign Het
Mast1 C A 8: 85,647,841 (GRCm39) G511V probably damaging Het
Mcmbp T C 7: 128,306,345 (GRCm39) I424M possibly damaging Het
Mobp A G 9: 119,997,072 (GRCm39) T68A probably benign Het
Myh11 T C 16: 14,035,910 (GRCm39) E1006G probably damaging Het
Ncstn A G 1: 171,910,166 (GRCm39) probably null Het
Or1j12 A G 2: 36,342,609 (GRCm39) D4G probably benign Het
Phip A T 9: 82,772,507 (GRCm39) V1075D possibly damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Serpinb1a C T 13: 33,034,376 (GRCm39) S5N probably damaging Het
Slc15a3 A G 19: 10,830,534 (GRCm39) N295S probably benign Het
Trmt13 A C 3: 116,383,877 (GRCm39) probably null Het
Trp63 A C 16: 25,639,134 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Or8k39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Or8k39 APN 2 86,563,579 (GRCm39) missense possibly damaging 0.90
IGL00944:Or8k39 APN 2 86,563,905 (GRCm39) missense possibly damaging 0.80
IGL01478:Or8k39 APN 2 86,563,673 (GRCm39) nonsense probably null
IGL01636:Or8k39 APN 2 86,563,945 (GRCm39) nonsense probably null
IGL01887:Or8k39 APN 2 86,563,030 (GRCm39) missense probably benign 0.03
IGL02008:Or8k39 APN 2 86,563,521 (GRCm39) missense possibly damaging 0.90
IGL02560:Or8k39 APN 2 86,563,578 (GRCm39) missense probably damaging 1.00
R1782:Or8k39 UTSW 2 86,563,026 (GRCm39) missense probably benign 0.03
R2234:Or8k39 UTSW 2 86,563,921 (GRCm39) missense possibly damaging 0.94
R2866:Or8k39 UTSW 2 86,563,773 (GRCm39) missense possibly damaging 0.95
R3027:Or8k39 UTSW 2 86,563,930 (GRCm39) missense possibly damaging 0.79
R4275:Or8k39 UTSW 2 86,563,936 (GRCm39) missense probably damaging 1.00
R4799:Or8k39 UTSW 2 86,563,018 (GRCm39) splice site probably null
R5016:Or8k39 UTSW 2 86,563,090 (GRCm39) missense probably benign 0.17
R5154:Or8k39 UTSW 2 86,563,121 (GRCm39) nonsense probably null
R5355:Or8k39 UTSW 2 86,563,680 (GRCm39) missense probably damaging 1.00
R5624:Or8k39 UTSW 2 86,563,149 (GRCm39) missense probably benign 0.45
R6265:Or8k39 UTSW 2 86,563,299 (GRCm39) missense probably damaging 0.99
R7382:Or8k39 UTSW 2 86,563,129 (GRCm39) missense probably benign 0.02
R8009:Or8k39 UTSW 2 86,563,848 (GRCm39) missense probably damaging 0.99
R8850:Or8k39 UTSW 2 86,563,302 (GRCm39) missense probably damaging 0.99
R9652:Or8k39 UTSW 2 86,563,636 (GRCm39) missense probably damaging 1.00
X0028:Or8k39 UTSW 2 86,563,092 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16