Incidental Mutation 'IGL01727:Or9i16'
ID 105317
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 # IGL01727
Quality Score
Status
Chromosome 19
Chromosomal Location 13864625-13865572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13865242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 111 (C111R)
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: C111R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077400
Gene: ENSMUSG00000059105
AA Change: C111R

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: C111R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,012,380 (GRCm39) A292V probably benign Het
Ankrd26 A G 6: 118,488,597 (GRCm39) L1354P probably damaging Het
Aox1 T A 1: 58,112,387 (GRCm39) C720* probably null Het
Aqp5 T C 15: 99,489,502 (GRCm39) L117P probably damaging Het
Ccn3 G A 15: 54,609,634 (GRCm39) A45T probably benign Het
Col9a3 T C 2: 180,258,358 (GRCm39) probably null Het
Ctrc T C 4: 141,571,072 (GRCm39) Y56C probably damaging Het
Dsc2 T A 18: 20,171,257 (GRCm39) T581S probably benign Het
Grap2 T C 15: 80,518,610 (GRCm39) I51T probably damaging Het
Herc2 A G 7: 55,787,554 (GRCm39) Y1737C probably damaging Het
Hook3 A G 8: 26,560,187 (GRCm39) M346T probably benign Het
Lancl1 C T 1: 67,060,101 (GRCm39) C108Y probably damaging Het
Lpin2 T C 17: 71,553,447 (GRCm39) C824R probably damaging Het
Mlip T C 9: 77,147,030 (GRCm39) S88G probably damaging Het
Mtdh T G 15: 34,083,255 (GRCm39) L25R probably damaging Het
Musk A G 4: 58,303,887 (GRCm39) I177V probably benign Het
Obi1 G A 14: 104,716,823 (GRCm39) R517* probably null Het
Or12e13 T C 2: 87,663,844 (GRCm39) S154P probably damaging Het
Or4c100 A G 2: 88,356,271 (GRCm39) M115V probably benign Het
Pabpc4l C A 3: 46,401,100 (GRCm39) E181D probably damaging Het
Pcdh18 A G 3: 49,710,149 (GRCm39) S389P probably damaging Het
Ptk7 A G 17: 46,883,474 (GRCm39) Y864H probably damaging Het
Rbp4 A G 19: 38,112,500 (GRCm39) V155A probably benign Het
Rilpl1 C T 5: 124,669,007 (GRCm39) A14T possibly damaging Het
Rnf148 T A 6: 23,655,001 (GRCm39) probably benign Het
Ska2 T A 11: 87,006,973 (GRCm39) L26Q probably damaging Het
Slc29a2 T A 19: 5,076,486 (GRCm39) F125I probably damaging Het
Smap2 A G 4: 120,839,405 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Supt7l A G 5: 31,677,686 (GRCm39) V160A possibly damaging Het
Susd1 A G 4: 59,412,329 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,842 (GRCm39) D375G probably damaging Het
Thoc2l A G 5: 104,667,379 (GRCm39) T634A probably benign Het
Tpst2 G A 5: 112,457,724 (GRCm39) D351N probably damaging Het
Trcg1 T C 9: 57,149,556 (GRCm39) I376T probably benign Het
Trcg1 T A 9: 57,149,877 (GRCm39) I483N probably damaging Het
Tsga10 T C 1: 37,874,355 (GRCm39) E148G probably damaging Het
Zranb1 G T 7: 132,568,349 (GRCm39) D336Y probably damaging 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
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 2014-01-21