Incidental Mutation 'IGL01084:Or9i16'
ID 53232
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 # IGL01084
Quality Score
Status
Chromosome 19
Chromosomal Location 13864625-13865572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13864866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 236 (T236N)
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: T236N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077400
Gene: ENSMUSG00000059105
AA Change: T236N

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: T236N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,546,901 (GRCm39) Q284K probably damaging Het
Adgrd1 A T 5: 129,216,656 (GRCm39) N341I probably benign Het
Arhgap40 T C 2: 158,385,138 (GRCm39) F457S probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Catsper1 G A 19: 5,387,800 (GRCm39) V360M probably damaging Het
Cdc42bpa T A 1: 179,969,839 (GRCm39) probably benign Het
Cep250 C T 2: 155,840,313 (GRCm39) H2424Y probably benign Het
Cln3 T C 7: 126,174,426 (GRCm39) E304G probably damaging Het
Eml2 T A 7: 18,924,663 (GRCm39) C177* probably null Het
Epha5 G A 5: 84,218,946 (GRCm39) R917* probably null Het
Gabra2 A G 5: 71,163,576 (GRCm39) F244L probably damaging Het
Gars1 C A 6: 55,032,812 (GRCm39) D261E probably benign Het
Gata3os A G 2: 9,887,884 (GRCm39) probably benign Het
Keg1 A G 19: 12,691,976 (GRCm39) K98E probably damaging Het
Kif13a A G 13: 46,904,110 (GRCm39) probably benign Het
Matn1 A G 4: 130,679,245 (GRCm39) K300E probably benign Het
Mesp1 A G 7: 79,442,831 (GRCm39) S149P probably benign Het
Mmp10 T C 9: 7,505,651 (GRCm39) V305A possibly damaging Het
Muc5b T C 7: 141,397,186 (GRCm39) probably benign Het
Myof T C 19: 37,924,884 (GRCm39) T1181A probably damaging Het
Or1r1 A T 11: 73,875,353 (GRCm39) L27Q probably damaging Het
Or5d35 T C 2: 87,855,347 (GRCm39) S94P probably benign Het
Osbpl11 T C 16: 33,047,221 (GRCm39) probably benign Het
Prune2 T C 19: 17,095,573 (GRCm39) V359A probably benign Het
Ptch1 T A 13: 63,691,451 (GRCm39) E267D probably damaging Het
Rbl2 A G 8: 91,848,941 (GRCm39) E1049G probably damaging Het
Ruvbl2 A T 7: 45,071,947 (GRCm39) probably null Het
Sec23b A G 2: 144,406,509 (GRCm39) I101M possibly damaging Het
Srms A C 2: 180,848,177 (GRCm39) probably null Het
Svep1 T A 4: 58,111,419 (GRCm39) T1067S possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem127 T C 2: 127,099,006 (GRCm39) V180A probably damaging Het
Trpm7 A G 2: 126,687,992 (GRCm39) probably null Het
Trpv3 G A 11: 73,184,826 (GRCm39) probably null Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Vmn2r80 A G 10: 79,030,433 (GRCm39) Y753C probably damaging Het
Vps13d A G 4: 144,881,525 (GRCm39) L1350S probably benign Het
Zfp287 G T 11: 62,604,716 (GRCm39) Y730* probably null Het
Zfp583 A G 7: 6,320,184 (GRCm39) F276S probably damaging Het
Zfp638 T C 6: 83,921,780 (GRCm39) Y636H 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
IGL01522:Or9i16 APN 19 13,864,722 (GRCm39) nonsense probably null
IGL01727:Or9i16 APN 19 13,865,242 (GRCm39) missense probably damaging 0.98
IGL02440:Or9i16 APN 19 13,865,223 (GRCm39) missense probably damaging 1.00
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 2013-06-21