Incidental Mutation 'R4280:Or5an9'
ID 322872
Institutional Source Beutler Lab
Gene Symbol Or5an9
Ensembl Gene ENSMUSG00000094133
Gene Name olfactory receptor family 5 subfamily AN member 9
Synonyms MOR214-5, Olfr1431, GA_x6K02T2RE5P-2573738-2574676
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4280 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12186932-12187870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12187302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 124 (Y124C)
Ref Sequence ENSEMBL: ENSMUSP00000150967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072316] [ENSMUST00000213759]
AlphaFold Q8VF59
Predicted Effect probably damaging
Transcript: ENSMUST00000072316
AA Change: Y124C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072158
Gene: ENSMUSG00000094133
AA Change: Y124C

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 8.4e-56 PFAM
Pfam:7tm_1 42 309 2.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213759
AA Change: Y124C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214138
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Cimip3 T C 17: 47,724,780 (GRCm39) M17V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Dgat2 A G 7: 98,808,204 (GRCm39) I157T probably damaging Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Or5an9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Or5an9 APN 19 12,187,404 (GRCm39) missense possibly damaging 0.65
IGL02206:Or5an9 APN 19 12,187,824 (GRCm39) missense probably damaging 1.00
IGL02938:Or5an9 APN 19 12,187,046 (GRCm39) missense probably benign 0.00
PIT4812001:Or5an9 UTSW 19 12,187,617 (GRCm39) missense probably damaging 1.00
R0402:Or5an9 UTSW 19 12,186,953 (GRCm39) missense probably damaging 1.00
R0661:Or5an9 UTSW 19 12,187,068 (GRCm39) missense probably damaging 1.00
R1193:Or5an9 UTSW 19 12,187,803 (GRCm39) missense probably damaging 1.00
R1483:Or5an9 UTSW 19 12,187,114 (GRCm39) nonsense probably null
R4091:Or5an9 UTSW 19 12,187,143 (GRCm39) missense probably damaging 1.00
R5028:Or5an9 UTSW 19 12,187,518 (GRCm39) missense possibly damaging 0.94
R5540:Or5an9 UTSW 19 12,187,824 (GRCm39) missense probably damaging 1.00
R6042:Or5an9 UTSW 19 12,187,286 (GRCm39) missense probably damaging 0.99
R6045:Or5an9 UTSW 19 12,187,659 (GRCm39) missense probably damaging 1.00
R7104:Or5an9 UTSW 19 12,187,242 (GRCm39) missense possibly damaging 0.82
R9068:Or5an9 UTSW 19 12,187,703 (GRCm39) missense probably damaging 1.00
R9165:Or5an9 UTSW 19 12,187,286 (GRCm39) missense probably damaging 0.99
Z1088:Or5an9 UTSW 19 12,187,854 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- AGAATGGATTCCCACCTTCAC -3'
(R):5'- TGAGATATGTCACAGAAGAAATGCC -3'

Sequencing Primer
(F):5'- ACACACCCATGTATTTCTTCCTCAG -3'
(R):5'- TGTCACAGAAGAAATGCCTAATGAC -3'
Posted On 2015-06-20