Incidental Mutation 'IGL02731:Or5an1'
ID 305438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5an1
Ensembl Gene ENSMUSG00000095640
Gene Name olfactory receptor family 5 subfamily AN member 1
Synonyms GA_x6K02T2RE5P-2610001-2610414, Olfr1433, MOR214-4, GA_x6K02T2RE5P-2618516-2619454, Olfr1434, MOR214-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL02731
Quality Score
Status
Chromosome 19
Chromosomal Location 12257218-12261352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12261206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 265 (S265P)
Ref Sequence ENSEMBL: ENSMUSP00000146411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]
AlphaFold Q7TQR9
Predicted Effect probably damaging
Transcript: ENSMUST00000087814
AA Change: S265P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085115
Gene: ENSMUSG00000095640
AA Change: S265P

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 9.2e-55 PFAM
Pfam:7tm_1 42 307 2.5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207186
AA Change: S265P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000207915
Predicted Effect probably damaging
Transcript: ENSMUST00000208197
AA Change: S265P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A T 11: 61,784,302 (GRCm39) D515E possibly damaging Het
Ankrd13b A T 11: 77,367,045 (GRCm39) S9R probably damaging Het
Ano9 G A 7: 140,687,117 (GRCm39) A374V probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep78 T A 19: 15,933,670 (GRCm39) H636L probably benign Het
Chd2 A G 7: 73,143,204 (GRCm39) V563A probably damaging Het
Cndp1 G T 18: 84,650,083 (GRCm39) D203E probably damaging Het
Col16a1 G A 4: 129,947,323 (GRCm39) probably benign Het
Copa T C 1: 171,929,785 (GRCm39) V284A possibly damaging Het
Dlec1 A G 9: 118,976,188 (GRCm39) T1656A probably benign Het
Dop1a T C 9: 86,369,434 (GRCm39) I89T probably damaging Het
Eif2ak4 T C 2: 118,219,295 (GRCm39) S36P probably benign Het
Ep300 A T 15: 81,532,615 (GRCm39) I1618F unknown Het
Fan1 G A 7: 64,022,741 (GRCm39) L171F possibly damaging Het
Fancm A G 12: 65,135,079 (GRCm39) T291A probably benign Het
Gm14325 T C 2: 177,474,779 (GRCm39) K101R probably damaging Het
Hmx3 A T 7: 131,145,692 (GRCm39) probably null Het
Htt G T 5: 34,961,137 (GRCm39) V255L probably benign Het
L3mbtl3 C T 10: 26,220,074 (GRCm39) probably null Het
Lmbr1l A G 15: 98,815,777 (GRCm39) L9P probably damaging Het
Lyzl6 A T 11: 103,525,903 (GRCm39) Y72* probably null Het
Mib1 A G 18: 10,800,115 (GRCm39) E818G possibly damaging Het
Neb T C 2: 52,050,715 (GRCm39) T6405A probably damaging Het
Npas3 A G 12: 54,114,578 (GRCm39) D482G probably benign Het
Nuak2 C A 1: 132,244,095 (GRCm39) A43E probably damaging Het
Or10ag2 G A 2: 87,249,051 (GRCm39) V220I probably benign Het
Or4a70 T C 2: 89,323,801 (GRCm39) Y285C probably damaging Het
Or4f4b A T 2: 111,313,873 (GRCm39) I33L probably benign Het
Pde11a C A 2: 75,821,583 (GRCm39) A899S probably benign Het
Ppfibp2 A T 7: 107,345,629 (GRCm39) I884F possibly damaging Het
Pus7l A G 15: 94,421,345 (GRCm39) V655A probably benign Het
Rad51ap2 A G 12: 11,506,897 (GRCm39) D273G probably damaging Het
Rc3h2 T C 2: 37,272,823 (GRCm39) D751G probably benign Het
Sdk1 C T 5: 142,158,299 (GRCm39) A1863V probably damaging Het
Spns3 T C 11: 72,420,403 (GRCm39) Y361C probably damaging Het
Srp72 T A 5: 77,142,062 (GRCm39) I372N probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tcf20 A G 15: 82,737,438 (GRCm39) S1338P probably benign Het
Tcte1 G A 17: 45,850,812 (GRCm39) V363I probably benign Het
Vmn1r42 T C 6: 89,822,407 (GRCm39) K54R probably benign Het
Vps13b A G 15: 35,917,274 (GRCm39) N3706S probably benign Het
Vwde T C 6: 13,192,613 (GRCm39) Y430C probably damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Zfp959 G A 17: 56,202,956 (GRCm39) probably benign Het
Other mutations in Or5an1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Or5an1 APN 19 12,261,069 (GRCm39) missense probably damaging 1.00
IGL02415:Or5an1 APN 19 12,260,862 (GRCm39) missense probably benign 0.44
IGL02803:Or5an1 APN 19 12,261,347 (GRCm39) missense possibly damaging 0.94
IGL03050:Or5an1 UTSW 19 12,260,876 (GRCm39) missense probably benign
R0432:Or5an1 UTSW 19 12,261,267 (GRCm39) missense probably damaging 1.00
R2209:Or5an1 UTSW 19 12,261,224 (GRCm39) missense probably benign 0.41
R3710:Or5an1 UTSW 19 12,260,450 (GRCm39) missense probably damaging 1.00
R4724:Or5an1 UTSW 19 12,260,460 (GRCm39) missense probably damaging 1.00
R5133:Or5an1 UTSW 19 12,260,670 (GRCm39) missense possibly damaging 0.96
R5974:Or5an1 UTSW 19 12,261,200 (GRCm39) missense probably damaging 1.00
R6544:Or5an1 UTSW 19 12,260,519 (GRCm39) missense probably damaging 1.00
R7225:Or5an1 UTSW 19 12,260,831 (GRCm39) missense probably benign 0.00
R7320:Or5an1 UTSW 19 12,261,180 (GRCm39) missense possibly damaging 0.72
R7467:Or5an1 UTSW 19 12,260,839 (GRCm39) nonsense probably null
R7900:Or5an1 UTSW 19 12,260,705 (GRCm39) missense probably damaging 1.00
R8719:Or5an1 UTSW 19 12,260,792 (GRCm39) missense probably benign 0.13
R9135:Or5an1 UTSW 19 12,260,808 (GRCm39) missense probably damaging 1.00
R9324:Or5an1 UTSW 19 12,260,939 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16