Incidental Mutation 'R2209:Or5an1'
ID 239297
Institutional Source Beutler Lab
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
MMRRC Submission 040211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R2209 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 12257218-12261352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 12261224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 271 (F271V)
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: F271V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085115
Gene: ENSMUSG00000095640
AA Change: F271V

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: F271V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000207915
Predicted Effect probably benign
Transcript: ENSMUST00000208197
AA Change: F271V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,884,227 (GRCm39) E330G possibly damaging Het
Apob A C 12: 8,057,752 (GRCm39) D2078A probably benign Het
Arhgap21 T A 2: 20,854,331 (GRCm39) Q1681L probably damaging Het
Arsb A G 13: 93,998,609 (GRCm39) T306A probably benign Het
Brpf3 G A 17: 29,047,394 (GRCm39) D1053N probably damaging Het
Cenpf A T 1: 189,384,795 (GRCm39) I2495N probably benign Het
Col12a1 T C 9: 79,599,634 (GRCm39) K840E possibly damaging Het
Cry1 A G 10: 84,982,619 (GRCm39) L269P probably damaging Het
Cyp21a1 C A 17: 35,021,701 (GRCm39) E289* probably null Het
Dcp2 A T 18: 44,538,581 (GRCm39) K215* probably null Het
Dnaaf11 A G 15: 66,321,400 (GRCm39) I247T probably benign Het
Ecm2 A G 13: 49,683,632 (GRCm39) N537D probably damaging Het
Emid1 G A 11: 5,085,407 (GRCm39) T113M probably benign Het
Exoc8 C T 8: 125,622,918 (GRCm39) W483* probably null Het
Fes A T 7: 80,030,031 (GRCm39) N582K probably damaging Het
Flnb G T 14: 7,905,507 (GRCm38) E1086* probably null Het
Flnc T A 6: 29,455,844 (GRCm39) D2058E possibly damaging Het
Gatb G A 3: 85,561,112 (GRCm39) D543N probably benign Het
Gm14412 A G 2: 177,009,229 (GRCm39) V9A probably damaging Het
Gm4884 T C 7: 40,692,745 (GRCm39) V238A possibly damaging Het
Igfbp5 A G 1: 72,913,096 (GRCm39) V68A possibly damaging Het
Igflr1 T A 7: 30,267,222 (GRCm39) I330N probably damaging Het
Il1r2 A G 1: 40,154,298 (GRCm39) T222A probably benign Het
Krt87 T C 15: 101,330,989 (GRCm39) E419G probably benign Het
Lman2 A G 13: 55,499,315 (GRCm39) S187P probably damaging Het
Mrpl38 T C 11: 116,029,288 (GRCm39) E76G possibly damaging Het
Mtx3 A G 13: 92,984,112 (GRCm39) I130V probably benign Het
Naf1 T G 8: 67,313,188 (GRCm39) probably benign Het
Nkx2-1 T G 12: 56,580,293 (GRCm39) M216L probably benign Het
Notch1 C A 2: 26,350,019 (GRCm39) V2374L probably benign Het
Nrxn2 A G 19: 6,543,037 (GRCm39) D1087G probably benign Het
Nudt8 T C 19: 4,051,902 (GRCm39) F171S probably damaging Het
Pds5a A T 5: 65,785,357 (GRCm39) C916* probably null Het
Phyhip A T 14: 70,699,334 (GRCm39) N46Y probably damaging Het
Pomt1 A G 2: 32,140,874 (GRCm39) Y502C possibly damaging Het
Prkcg A C 7: 3,352,097 (GRCm39) probably benign Het
Prl8a6 C T 13: 27,619,369 (GRCm39) E118K probably benign Het
Prpf39 T C 12: 65,104,689 (GRCm39) probably null Het
Ptprb A G 10: 116,205,262 (GRCm39) H2159R probably damaging Het
Ripor2 A T 13: 24,885,595 (GRCm39) D571V probably damaging Het
Rps19 C T 7: 24,584,552 (GRCm39) L34F probably benign Het
Rusc1 A G 3: 88,996,128 (GRCm39) S145P probably damaging Het
Scn4a T A 11: 106,230,051 (GRCm39) T586S probably damaging Het
Slc7a12 A G 3: 14,546,124 (GRCm39) S90G possibly damaging Het
Specc1l A G 10: 75,082,410 (GRCm39) D619G probably damaging Het
Src A G 2: 157,304,710 (GRCm39) D143G probably benign Het
Sst T C 16: 23,708,558 (GRCm39) N91S probably benign Het
Stxbp5l T A 16: 37,036,398 (GRCm39) I406F probably damaging Het
Thsd1 T A 8: 22,748,887 (GRCm39) I525N probably damaging Het
Ticam2 A T 18: 46,693,467 (GRCm39) F207I probably damaging Het
Tsc22d1 C A 14: 76,656,180 (GRCm39) N31K probably damaging Het
Tspan10 T C 11: 120,336,989 (GRCm39) V253A probably benign Het
Ttc33 A G 15: 5,237,924 (GRCm39) K99R possibly damaging Het
Vmn1r63 T A 7: 5,806,212 (GRCm39) N140I probably damaging Het
Yju2b C T 8: 84,990,498 (GRCm39) V45I probably benign Het
Zbtb25 A G 12: 76,395,903 (GRCm39) *440Q probably null Het
Zfhx4 T A 3: 5,461,978 (GRCm39) C1218S probably damaging Het
Zfp84 T A 7: 29,476,607 (GRCm39) I433N probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACGCCTTAGCCATCATGGTG -3'
(R):5'- GCCATGGACTTTGTAGTATTCCAGC -3'

Sequencing Primer
(F):5'- AGCCATCATGGTGTCCTATG -3'
(R):5'- TGTAGTATTCCAGCCATGTGTAC -3'
Posted On 2014-10-15