Incidental Mutation 'IGL03304:Or9s23'
ID 416324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or9s23
Ensembl Gene ENSMUSG00000058904
Gene Name olfactory receptor family 9 subfamily S member 23
Synonyms MOR208-1, Olfr1413, GA_x6K02T2R7CC-81180849-81179878
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03304
Quality Score
Status
Chromosome 1
Chromosomal Location 92500847-92501928 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92501025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000150792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074859] [ENSMUST00000214239]
AlphaFold Q8VGU3
Predicted Effect probably benign
Transcript: ENSMUST00000074859
AA Change: V44A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000074402
Gene: ENSMUSG00000058904
AA Change: V44A

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:7tm_4 38 314 2.3e-50 PFAM
Pfam:7tm_1 48 297 2.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185802
Predicted Effect probably benign
Transcript: ENSMUST00000214239
AA Change: V44A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A T 9: 106,312,665 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,438 (GRCm39) probably benign Het
Anapc1 A T 2: 128,469,033 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aoah A G 13: 21,099,180 (GRCm39) probably benign Het
Atp9b A T 18: 80,961,092 (GRCm39) Y40N probably damaging Het
Brd8 A G 18: 34,747,633 (GRCm39) probably benign Het
Cd274 A C 19: 29,361,502 (GRCm39) E270A probably damaging Het
Cic T A 7: 24,984,274 (GRCm39) V23E probably damaging Het
Cpeb4 T C 11: 31,822,739 (GRCm39) L151P probably damaging Het
D3Ertd751e G A 3: 41,701,164 (GRCm39) probably null Het
Diaph1 A T 18: 37,987,626 (GRCm39) D1043E possibly damaging Het
Fcgbpl1 A G 7: 27,841,667 (GRCm39) Y534C probably damaging Het
Hmcn1 T A 1: 150,505,982 (GRCm39) N3848I probably damaging Het
Ifi211 A T 1: 173,735,273 (GRCm39) M52K probably damaging Het
Itih4 T C 14: 30,620,006 (GRCm39) I747T probably damaging Het
Kifbp A C 10: 62,395,082 (GRCm39) L520R probably damaging Het
Lcat T C 8: 106,666,695 (GRCm39) M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 (GRCm39) D282E probably damaging Het
Mst1r T A 9: 107,785,137 (GRCm39) V265D probably damaging Het
Muc4 T A 16: 32,570,257 (GRCm39) L439* probably null Het
Nlrp4e T A 7: 23,052,768 (GRCm39) probably null Het
Ogfod2 A T 5: 124,250,886 (GRCm39) D24V probably damaging Het
Or1ak2 T C 2: 36,827,560 (GRCm39) L143P probably damaging Het
Or5b105 A G 19: 13,080,105 (GRCm39) S182P probably damaging Het
Pcnx1 T A 12: 82,028,803 (GRCm39) W1661R probably damaging Het
Pdzph1 G A 17: 59,187,641 (GRCm39) T1193I probably damaging Het
Pias3 A G 3: 96,607,347 (GRCm39) T152A possibly damaging Het
Pla2g5 A T 4: 138,531,880 (GRCm39) Y41* probably null Het
Plxna4 A G 6: 32,141,986 (GRCm39) probably benign Het
Ppp2r2a A C 14: 67,253,977 (GRCm39) V397G probably benign Het
Ripor3 A G 2: 167,822,848 (GRCm39) probably benign Het
Slc35a3 A G 3: 116,480,960 (GRCm39) L101P probably damaging Het
Sptan1 G A 2: 29,876,505 (GRCm39) R295Q probably damaging Het
Syce1 A T 7: 140,357,623 (GRCm39) V314D possibly damaging Het
Tex52 T C 6: 128,356,495 (GRCm39) Y63H possibly damaging Het
Tmem63a T A 1: 180,796,418 (GRCm39) Y580* probably null Het
Ube2m T A 7: 12,769,685 (GRCm39) probably benign Het
Vmn1r50 G T 6: 90,084,625 (GRCm39) K123N probably damaging Het
Other mutations in Or9s23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Or9s23 APN 1 92,501,165 (GRCm39) missense probably benign 0.01
IGL01829:Or9s23 APN 1 92,501,051 (GRCm39) missense probably benign 0.37
IGL02160:Or9s23 APN 1 92,501,079 (GRCm39) missense probably damaging 1.00
IGL02535:Or9s23 APN 1 92,500,943 (GRCm39) missense probably benign 0.10
R0001:Or9s23 UTSW 1 92,501,183 (GRCm39) missense possibly damaging 0.62
R0033:Or9s23 UTSW 1 92,500,982 (GRCm39) missense probably benign 0.05
R2027:Or9s23 UTSW 1 92,501,489 (GRCm39) missense probably damaging 0.99
R2152:Or9s23 UTSW 1 92,501,630 (GRCm39) missense probably damaging 1.00
R2174:Or9s23 UTSW 1 92,501,379 (GRCm39) missense probably benign 0.00
R3407:Or9s23 UTSW 1 92,501,675 (GRCm39) missense probably damaging 0.99
R3408:Or9s23 UTSW 1 92,501,675 (GRCm39) missense probably damaging 0.99
R3951:Or9s23 UTSW 1 92,501,511 (GRCm39) missense possibly damaging 0.53
R4687:Or9s23 UTSW 1 92,501,052 (GRCm39) missense possibly damaging 0.63
R4793:Or9s23 UTSW 1 92,501,207 (GRCm39) missense possibly damaging 0.89
R5069:Or9s23 UTSW 1 92,501,135 (GRCm39) missense probably damaging 1.00
R5070:Or9s23 UTSW 1 92,501,135 (GRCm39) missense probably damaging 1.00
R5160:Or9s23 UTSW 1 92,501,544 (GRCm39) missense probably benign 0.02
R5411:Or9s23 UTSW 1 92,501,546 (GRCm39) missense probably benign 0.00
R7487:Or9s23 UTSW 1 92,501,517 (GRCm39) missense possibly damaging 0.49
R7677:Or9s23 UTSW 1 92,500,983 (GRCm39) missense not run
R7832:Or9s23 UTSW 1 92,501,219 (GRCm39) missense probably benign 0.03
R7860:Or9s23 UTSW 1 92,501,810 (GRCm39) missense probably benign 0.11
R7984:Or9s23 UTSW 1 92,501,144 (GRCm39) missense probably benign 0.03
R8460:Or9s23 UTSW 1 92,501,268 (GRCm39) missense probably damaging 1.00
R8734:Or9s23 UTSW 1 92,501,121 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02