Incidental Mutation 'IGL02206:Or5an9'
ID 284459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5an9
Ensembl Gene ENSMUSG00000094133
Gene Name olfactory receptor family 5 subfamily AN member 9
Synonyms MOR214-5, Olfr1431, GA_x6K02T2RE5P-2573738-2574676
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02206
Quality Score
Status
Chromosome 19
Chromosomal Location 12186932-12187870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12187824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 298 (I298T)
Ref Sequence ENSEMBL: ENSMUSP00000150967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072316] [ENSMUST00000213759]
AlphaFold Q8VF59
Predicted Effect probably damaging
Transcript: ENSMUST00000072316
AA Change: I298T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072158
Gene: ENSMUSG00000094133
AA Change: I298T

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 8.4e-56 PFAM
Pfam:7tm_1 42 309 2.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213759
AA Change: I298T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214138
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,151,573 (GRCm39) K824* probably null Het
Acot12 A G 13: 91,908,106 (GRCm39) D96G probably damaging Het
Acvr2b C T 9: 119,257,064 (GRCm39) Q98* probably null Het
Aldh8a1 T C 10: 21,271,474 (GRCm39) V400A probably benign Het
Aox1 C A 1: 58,104,499 (GRCm39) H559N probably benign Het
Arhgef18 T A 8: 3,495,034 (GRCm39) I431N probably benign Het
Atad5 A G 11: 79,985,009 (GRCm39) D32G probably damaging Het
Cgas T C 9: 78,350,362 (GRCm39) probably null Het
Cmtm8 T C 9: 114,672,967 (GRCm39) H10R probably benign Het
Cnn1 T G 9: 22,015,674 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Defb23 C A 2: 152,306,455 (GRCm39) E20* probably null Het
Dennd2a A T 6: 39,500,383 (GRCm39) S61T probably damaging Het
Fam13a A T 6: 58,964,204 (GRCm39) I76K probably benign Het
Fgd5 A G 6: 91,964,239 (GRCm39) probably benign Het
Flt4 A T 11: 49,521,217 (GRCm39) R409W probably damaging Het
Gramd1b T C 9: 40,211,328 (GRCm39) T652A probably benign Het
Grik1 C T 16: 87,732,808 (GRCm39) G703D probably damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Itpr1 A G 6: 108,526,781 (GRCm39) N2743S probably damaging Het
Klc1 A G 12: 111,744,550 (GRCm39) probably benign Het
Ndufa9 G A 6: 126,821,366 (GRCm39) R75* probably null Het
Neurl4 A G 11: 69,801,166 (GRCm39) N1181S probably damaging Het
Phf1 A G 17: 27,155,843 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,376,245 (GRCm39) I969T probably benign Het
Pprc1 G A 19: 46,060,190 (GRCm39) R1538Q probably damaging Het
Rasd1 C T 11: 59,854,778 (GRCm39) G234D possibly damaging Het
Rnf152 T C 1: 105,212,549 (GRCm39) T3A probably benign Het
Rrh C T 3: 129,605,346 (GRCm39) V115I probably benign Het
Rundc3a G T 11: 102,290,460 (GRCm39) E217* probably null Het
Sae1 A T 7: 16,064,581 (GRCm39) V306E possibly damaging Het
Serpinb7 T C 1: 107,363,102 (GRCm39) S89P possibly damaging Het
Serpinb9h A G 13: 33,588,182 (GRCm39) T256A probably damaging Het
Sgo2b T A 8: 64,394,118 (GRCm39) T74S possibly damaging Het
Slc5a7 T C 17: 54,604,022 (GRCm39) D48G probably damaging Het
Stn1 T C 19: 47,504,612 (GRCm39) M177V possibly damaging Het
Tgm1 T C 14: 55,942,392 (GRCm39) E653G possibly damaging Het
Thsd4 T C 9: 60,301,398 (GRCm39) K299R probably benign Het
Ttc22 A G 4: 106,493,186 (GRCm39) T278A probably damaging Het
Ubl4b G T 3: 107,462,141 (GRCm39) Q40K possibly damaging Het
Zfp677 A G 17: 21,613,499 (GRCm39) D31G probably damaging Het
Other mutations in Or5an9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Or5an9 APN 19 12,187,404 (GRCm39) missense possibly damaging 0.65
IGL02938:Or5an9 APN 19 12,187,046 (GRCm39) missense probably benign 0.00
PIT4812001:Or5an9 UTSW 19 12,187,617 (GRCm39) missense probably damaging 1.00
R0402:Or5an9 UTSW 19 12,186,953 (GRCm39) missense probably damaging 1.00
R0661:Or5an9 UTSW 19 12,187,068 (GRCm39) missense probably damaging 1.00
R1193:Or5an9 UTSW 19 12,187,803 (GRCm39) missense probably damaging 1.00
R1483:Or5an9 UTSW 19 12,187,114 (GRCm39) nonsense probably null
R4091:Or5an9 UTSW 19 12,187,143 (GRCm39) missense probably damaging 1.00
R4280:Or5an9 UTSW 19 12,187,302 (GRCm39) missense probably damaging 1.00
R5028:Or5an9 UTSW 19 12,187,518 (GRCm39) missense possibly damaging 0.94
R5540:Or5an9 UTSW 19 12,187,824 (GRCm39) missense probably damaging 1.00
R6042:Or5an9 UTSW 19 12,187,286 (GRCm39) missense probably damaging 0.99
R6045:Or5an9 UTSW 19 12,187,659 (GRCm39) missense probably damaging 1.00
R7104:Or5an9 UTSW 19 12,187,242 (GRCm39) missense possibly damaging 0.82
R9068:Or5an9 UTSW 19 12,187,703 (GRCm39) missense probably damaging 1.00
R9165:Or5an9 UTSW 19 12,187,286 (GRCm39) missense probably damaging 0.99
Z1088:Or5an9 UTSW 19 12,187,854 (GRCm39) missense possibly damaging 0.55
Posted On 2015-04-16