Incidental Mutation 'IGL02440:Or9i16'
ID 293413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or9i16
Ensembl Gene ENSMUSG00000059105
Gene Name olfactory receptor family 9 subfamily I member 16
Synonyms GA_x6K02T2RE5P-4223635-4222688, Olfr1504, MOR212-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02440
Quality Score
Status
Chromosome 19
Chromosomal Location 13864625-13865572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13865223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 117 (M117K)
Ref Sequence ENSEMBL: ENSMUSP00000146610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078282] [ENSMUST00000209192]
AlphaFold Q8VFQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000078282
AA Change: M117K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077400
Gene: ENSMUSG00000059105
AA Change: M117K

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 4.3e-46 PFAM
Pfam:7tm_1 40 313 1.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209192
AA Change: M117K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,824,777 (GRCm39) probably benign Het
Bmt2 C T 6: 13,628,609 (GRCm39) R358Q probably damaging Het
C2cd6 A G 1: 59,114,259 (GRCm39) I182T probably benign Het
Calr3 T C 8: 73,185,276 (GRCm39) T100A probably benign Het
Cln3 T C 7: 126,181,954 (GRCm39) K36R probably benign Het
Ddx25 C T 9: 35,468,974 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,313,899 (GRCm39) V1677E probably damaging Het
Dnah10 A G 5: 124,850,883 (GRCm39) E1684G probably damaging Het
Dnah9 A G 11: 65,846,072 (GRCm39) S2989P probably damaging Het
F5 A T 1: 164,034,635 (GRCm39) T1845S possibly damaging Het
Folh1 G T 7: 86,383,312 (GRCm39) N478K probably benign Het
Gpr22 T C 12: 31,759,139 (GRCm39) I328V probably damaging Het
Itln1 C T 1: 171,359,097 (GRCm39) A128T probably benign Het
Itprid1 A G 6: 55,861,713 (GRCm39) T97A possibly damaging Het
Kank1 A G 19: 25,410,272 (GRCm39) K1322R probably damaging Het
Klhdc2 A G 12: 69,350,414 (GRCm39) Y153C probably damaging Het
Lonp2 T A 8: 87,350,813 (GRCm39) M1K probably null Het
Mtor T A 4: 148,630,886 (GRCm39) M2281K probably benign Het
Mtor T A 4: 148,576,104 (GRCm39) N1378K probably benign Het
Myo1e G A 9: 70,254,022 (GRCm39) R557H probably damaging Het
Nedd4l T C 18: 65,296,244 (GRCm39) probably null Het
Or2r3 T C 6: 42,449,100 (GRCm39) D4G probably benign Het
Or2t46 A T 11: 58,472,035 (GRCm39) M122L probably damaging Het
Or2z9 T A 8: 72,854,374 (GRCm39) F257I probably damaging Het
Pcdh18 T C 3: 49,699,052 (GRCm39) probably benign Het
Phldb1 T C 9: 44,626,700 (GRCm39) T582A probably damaging Het
Plxna2 A T 1: 194,428,458 (GRCm39) E509D probably benign Het
Poln A T 5: 34,286,474 (GRCm39) D231E probably damaging Het
Prex2 G A 1: 11,223,881 (GRCm39) R735Q possibly damaging Het
Prpf40b T C 15: 99,204,747 (GRCm39) S263P probably damaging Het
Sfmbt2 C T 2: 10,573,194 (GRCm39) A574V probably damaging Het
Slc12a3 T C 8: 95,058,310 (GRCm39) I152T probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,145,293 (GRCm39) I391V probably benign Het
Tbx4 A G 11: 85,781,720 (GRCm39) E80G probably damaging Het
Vmn2r22 A G 6: 123,614,364 (GRCm39) Y409H probably benign Het
Zfp691 T G 4: 119,027,493 (GRCm39) R246S probably damaging Het
Zfp846 T C 9: 20,499,796 (GRCm39) probably benign Het
Other mutations in Or9i16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Or9i16 APN 19 13,864,945 (GRCm39) missense probably benign
IGL00885:Or9i16 APN 19 13,865,532 (GRCm39) missense probably benign 0.17
IGL01084:Or9i16 APN 19 13,864,866 (GRCm39) missense probably damaging 1.00
IGL01522:Or9i16 APN 19 13,864,722 (GRCm39) nonsense probably null
IGL01727:Or9i16 APN 19 13,865,242 (GRCm39) missense probably damaging 0.98
IGL03342:Or9i16 APN 19 13,864,801 (GRCm39) missense probably damaging 1.00
R0531:Or9i16 UTSW 19 13,865,116 (GRCm39) missense possibly damaging 0.62
R0577:Or9i16 UTSW 19 13,865,167 (GRCm39) missense probably damaging 1.00
R1028:Or9i16 UTSW 19 13,865,159 (GRCm39) missense probably damaging 0.97
R1674:Or9i16 UTSW 19 13,864,954 (GRCm39) missense probably benign 0.01
R3906:Or9i16 UTSW 19 13,865,070 (GRCm39) missense probably damaging 1.00
R4598:Or9i16 UTSW 19 13,865,381 (GRCm39) missense probably damaging 1.00
R4658:Or9i16 UTSW 19 13,864,912 (GRCm39) missense probably benign 0.19
R4676:Or9i16 UTSW 19 13,864,765 (GRCm39) missense probably damaging 1.00
R5919:Or9i16 UTSW 19 13,865,209 (GRCm39) missense probably damaging 1.00
R5943:Or9i16 UTSW 19 13,865,116 (GRCm39) missense possibly damaging 0.62
R8112:Or9i16 UTSW 19 13,864,753 (GRCm39) missense probably damaging 1.00
R9616:Or9i16 UTSW 19 13,864,861 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16