Incidental Mutation 'IGL02415:Or5an1'
ID 292388
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 # IGL02415
Quality Score
Status
Chromosome 19
Chromosomal Location 12257218-12261352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12260862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 150 (Y150C)
Ref Sequence ENSEMBL: ENSMUSP00000146411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]
AlphaFold Q7TQR9
Predicted Effect probably benign
Transcript: ENSMUST00000087814
AA Change: Y150C

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085115
Gene: ENSMUSG00000095640
AA Change: Y150C

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 9.2e-55 PFAM
Pfam:7tm_1 42 307 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207186
AA Change: Y150C

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000207915
Predicted Effect probably benign
Transcript: ENSMUST00000208197
AA Change: Y150C

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,777,056 (GRCm39) D124G probably benign Het
Adamts13 T A 2: 26,879,295 (GRCm39) I616N possibly damaging Het
Adamts3 T C 5: 89,854,506 (GRCm39) probably null Het
Amy1 T C 3: 113,357,234 (GRCm39) I202V probably benign Het
Bdp1 G A 13: 100,225,916 (GRCm39) T322I probably damaging Het
Cep295 A G 9: 15,264,316 (GRCm39) L110S probably damaging Het
Cep72 T C 13: 74,198,273 (GRCm39) D369G probably benign Het
Chd3 A T 11: 69,239,739 (GRCm39) probably benign Het
Ckmt2 G A 13: 92,011,459 (GRCm39) probably benign Het
Cyp2s1 T C 7: 25,507,562 (GRCm39) T296A probably damaging Het
E2f5 T A 3: 14,668,957 (GRCm39) V283E probably benign Het
Eeig2 A G 3: 108,887,608 (GRCm39) Y219H probably damaging Het
F5 A G 1: 164,019,498 (GRCm39) T658A probably damaging Het
Gml A T 15: 74,688,289 (GRCm39) Y59* probably null Het
Kmo A T 1: 175,476,889 (GRCm39) probably benign Het
Krt25 A T 11: 99,213,398 (GRCm39) I107N probably damaging Het
Llgl2 A G 11: 115,744,111 (GRCm39) M773V probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Med12 T C X: 100,325,396 (GRCm39) V761A probably damaging Het
Mrpl19 T C 6: 81,940,942 (GRCm39) T150A probably benign Het
Muc2 G T 7: 141,305,609 (GRCm39) E646* probably null Het
Muc20 T A 16: 32,615,051 (GRCm39) T109S unknown Het
Nr2f6 T C 8: 71,827,156 (GRCm39) T382A probably benign Het
Nrap A G 19: 56,370,741 (GRCm39) I172T probably damaging Het
Or8b47 T C 9: 38,435,408 (GRCm39) C127R probably benign Het
P3h1 A T 4: 119,105,152 (GRCm39) Q710L probably benign Het
Parvb A G 15: 84,177,016 (GRCm39) H185R probably damaging Het
Pkhd1 A G 1: 20,484,645 (GRCm39) I1970T probably damaging Het
Pkhd1 T C 1: 20,592,983 (GRCm39) Y1710C probably damaging Het
Plxna2 C A 1: 194,326,272 (GRCm39) R69S probably damaging Het
Rad51ap2 A G 12: 11,506,930 (GRCm39) N284S possibly damaging Het
Reln T A 5: 22,176,949 (GRCm39) S1906C possibly damaging Het
Rln1 T C 19: 29,311,798 (GRCm39) R67G probably damaging Het
Shcbp1 C T 8: 4,804,239 (GRCm39) V224I possibly damaging Het
Slc13a4 A G 6: 35,260,172 (GRCm39) probably null Het
Stx6 A G 1: 155,069,059 (GRCm39) E195G possibly damaging Het
Sult2b1 G T 7: 45,391,509 (GRCm39) D90E possibly damaging Het
Taok1 A G 11: 77,431,066 (GRCm39) probably benign Het
Tbx15 A T 3: 99,259,826 (GRCm39) M566L probably benign Het
Tcaf1 C T 6: 42,663,584 (GRCm39) A99T probably benign Het
Tcf20 T A 15: 82,737,660 (GRCm39) M1264L probably benign Het
Tenm4 G A 7: 96,523,281 (GRCm39) V1571M probably damaging Het
Ttc39a A G 4: 109,288,726 (GRCm39) probably benign Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Ulk1 T C 5: 110,935,487 (GRCm39) D926G probably damaging Het
Vmn2r110 T C 17: 20,804,033 (GRCm39) I181V probably benign Het
Vmn2r66 G A 7: 84,656,020 (GRCm39) T332I probably damaging Het
Wdr1 C A 5: 38,688,453 (GRCm39) D161Y probably damaging Het
Wnt7a T C 6: 91,371,539 (GRCm39) Y141C probably damaging Het
Xrra1 G A 7: 99,565,150 (GRCm39) E573K probably benign Het
Zfp334 G T 2: 165,223,771 (GRCm39) Q91K possibly damaging Het
Other mutations in Or5an1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Or5an1 APN 19 12,261,069 (GRCm39) missense probably damaging 1.00
IGL02731:Or5an1 APN 19 12,261,206 (GRCm39) missense probably damaging 0.99
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