Incidental Mutation 'IGL02213:Or51af1'
ID 284756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51af1
Ensembl Gene ENSMUSG00000046396
Gene Name olfactory receptor family 51 subfamily AF member 1
Synonyms GA_x6K02T2PBJ9-6207735-6206776, Olfr609, MOR9-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02213
Quality Score
Status
Chromosome 7
Chromosomal Location 103141124-103142083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103141695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 130 (H130L)
Ref Sequence ENSEMBL: ENSMUSP00000149804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055787] [ENSMUST00000216075] [ENSMUST00000216360]
AlphaFold E9Q4X7
Predicted Effect probably benign
Transcript: ENSMUST00000055787
AA Change: H130L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000051749
Gene: ENSMUSG00000046396
AA Change: H130L

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 1.4e-119 PFAM
Pfam:7TM_GPCR_Srsx 34 169 2.2e-10 PFAM
Pfam:7tm_1 40 291 3.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216075
AA Change: H130L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216360
AA Change: H130L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,523,254 (GRCm39) R458C probably damaging Het
Aldh6a1 T A 12: 84,479,326 (GRCm39) probably benign Het
Ankrd13a C T 5: 114,924,029 (GRCm39) R42W probably damaging Het
Arhgef17 T C 7: 100,539,633 (GRCm39) M73V probably benign Het
Borcs6 A G 11: 68,950,679 (GRCm39) E19G probably benign Het
Cacna2d2 C T 9: 107,391,247 (GRCm39) R425C probably damaging Het
Cap2 T A 13: 46,789,087 (GRCm39) probably benign Het
Ccdc146 C T 5: 21,521,902 (GRCm39) R374H probably benign Het
Cdk5rap2 A G 4: 70,235,839 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,318,090 (GRCm39) D357G probably damaging Het
Dleu7 C T 14: 62,514,404 (GRCm39) V193M probably benign Het
Dmxl1 T A 18: 50,010,741 (GRCm39) probably benign Het
Dnah7b T A 1: 46,272,752 (GRCm39) F2293L probably damaging Het
Fgf22 G T 10: 79,592,449 (GRCm39) V75L probably damaging Het
Fras1 C A 5: 96,793,730 (GRCm39) C1017* probably null Het
Frmd3 A C 4: 74,054,109 (GRCm39) I173L probably benign Het
Fst T C 13: 114,592,390 (GRCm39) N109S possibly damaging Het
Greb1 A G 12: 16,756,233 (GRCm39) L801P probably damaging Het
Ift88 A G 14: 57,715,502 (GRCm39) D515G probably damaging Het
Kcnh7 T C 2: 62,569,706 (GRCm39) D730G probably damaging Het
Mbd1 A T 18: 74,408,453 (GRCm39) I231F probably damaging Het
Mre11a T A 9: 14,723,180 (GRCm39) F358I probably damaging Het
Mroh9 G T 1: 162,885,648 (GRCm39) T328K probably damaging Het
Nostrin T C 2: 69,014,262 (GRCm39) L406P probably benign Het
Ntrk3 T A 7: 78,112,679 (GRCm39) Q159L probably benign Het
Oca2 T C 7: 55,971,232 (GRCm39) probably benign Het
Or4k49 A T 2: 111,495,020 (GRCm39) T150S probably benign Het
Or5p54 T C 7: 107,554,511 (GRCm39) I221T probably damaging Het
Pfdn4 C T 2: 170,357,695 (GRCm39) Q21* probably null Het
Pkd1l3 T C 8: 110,357,977 (GRCm39) F823S probably damaging Het
Rnf212 C T 5: 108,895,276 (GRCm39) probably benign Het
Sbspon T C 1: 15,929,150 (GRCm39) S214G probably benign Het
Slc12a7 T C 13: 73,945,822 (GRCm39) probably null Het
Ugt3a1 A T 15: 9,370,310 (GRCm39) M485L probably benign Het
Vav1 T C 17: 57,612,351 (GRCm39) V561A possibly damaging Het
Vldlr A G 19: 27,218,726 (GRCm39) T485A probably benign Het
Wiz T C 17: 32,586,834 (GRCm39) T159A probably benign Het
Other mutations in Or51af1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02309:Or51af1 APN 7 103,141,206 (GRCm39) missense probably damaging 0.99
R0782:Or51af1 UTSW 7 103,141,722 (GRCm39) missense probably damaging 0.99
R0988:Or51af1 UTSW 7 103,141,954 (GRCm39) missense probably damaging 1.00
R4013:Or51af1 UTSW 7 103,141,840 (GRCm39) missense probably benign
R4600:Or51af1 UTSW 7 103,141,788 (GRCm39) missense probably damaging 0.99
R4735:Or51af1 UTSW 7 103,141,267 (GRCm39) missense possibly damaging 0.61
R4941:Or51af1 UTSW 7 103,141,458 (GRCm39) missense probably damaging 1.00
R5204:Or51af1 UTSW 7 103,141,747 (GRCm39) missense probably damaging 1.00
R5281:Or51af1 UTSW 7 103,141,180 (GRCm39) missense probably benign 0.00
R5941:Or51af1 UTSW 7 103,141,927 (GRCm39) missense possibly damaging 0.95
R6319:Or51af1 UTSW 7 103,141,932 (GRCm39) missense possibly damaging 0.84
R6505:Or51af1 UTSW 7 103,141,858 (GRCm39) missense probably damaging 1.00
R7258:Or51af1 UTSW 7 103,141,796 (GRCm39) missense probably damaging 1.00
R8680:Or51af1 UTSW 7 103,142,029 (GRCm39) missense probably damaging 1.00
R8709:Or51af1 UTSW 7 103,141,519 (GRCm39) missense probably benign
R8994:Or51af1 UTSW 7 103,141,800 (GRCm39) missense probably benign 0.03
X0065:Or51af1 UTSW 7 103,141,125 (GRCm39) makesense probably null
Z1177:Or51af1 UTSW 7 103,141,817 (GRCm39) missense probably benign
Posted On 2015-04-16