Incidental Mutation 'R6544:Or5an1'
ID 521062
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 044670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12257218-12261352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12260519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 36 (Y36H)
Ref Sequence ENSEMBL: ENSMUSP00000146411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]
AlphaFold Q7TQR9
Predicted Effect probably damaging
Transcript: ENSMUST00000207186
AA Change: Y36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207915
AA Change: Y36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208197
AA Change: Y36H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T 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
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
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

Sequencing Primer
Posted On 2018-06-06