Incidental Mutation 'IGL01707:Or51aa5'
ID 104644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51aa5
Ensembl Gene ENSMUSG00000096584
Gene Name olfactory receptor family 51 subfamily AA member 5
Synonyms MOR15-1, MOR15-4, Olfr611, GA_x6K02T2PBJ9-6236637-6235666
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01707
Quality Score
Status
Chromosome 7
Chromosomal Location 103166618-103167589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103167141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 150 (I150N)
Ref Sequence ENSEMBL: ENSMUSP00000149114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078108] [ENSMUST00000216074]
AlphaFold K7N609
Predicted Effect probably damaging
Transcript: ENSMUST00000078108
AA Change: I150N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077246
Gene: ENSMUSG00000096584
AA Change: I150N

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 5.6e-110 PFAM
Pfam:7TM_GPCR_Srsx 37 309 4.6e-11 PFAM
Pfam:7tm_1 43 294 1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216074
AA Change: I150N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,027,879 (GRCm39) R404L probably damaging Het
Acot6 C A 12: 84,147,763 (GRCm39) S6R probably benign Het
Adamtsl4 T A 3: 95,591,301 (GRCm39) Q222L probably benign Het
Adgre5 T A 8: 84,450,976 (GRCm39) T725S probably damaging Het
Agbl3 A T 6: 34,816,389 (GRCm39) K766N possibly damaging Het
Ankrd12 A G 17: 66,291,273 (GRCm39) S1387P probably damaging Het
Camk2a G A 18: 61,093,122 (GRCm39) probably null Het
Cd209d T C 8: 3,928,296 (GRCm39) I30V probably benign Het
Ces1d A T 8: 93,916,178 (GRCm39) S150T possibly damaging Het
Cox4i2 T C 2: 152,598,956 (GRCm39) Y38H probably damaging Het
Csmd2 T C 4: 128,276,798 (GRCm39) Y867H possibly damaging Het
Dbh G A 2: 27,055,556 (GRCm39) C10Y probably benign Het
Dnajc13 A G 9: 104,106,178 (GRCm39) V332A probably damaging Het
Gnb3 G T 6: 124,816,652 (GRCm39) A11E possibly damaging Het
Herc2 A G 7: 55,814,935 (GRCm39) R2725G probably damaging Het
Kdm4c C T 4: 74,255,164 (GRCm39) L573F probably damaging Het
Kmt2c T A 5: 25,505,096 (GRCm39) Q3404L probably damaging Het
Mmp9 A G 2: 164,791,909 (GRCm39) H231R probably benign Het
Nphp3 A T 9: 103,895,357 (GRCm39) D371V possibly damaging Het
Nphp4 A G 4: 152,623,440 (GRCm39) I705V probably benign Het
Nutm2 A T 13: 50,623,753 (GRCm39) N150I probably damaging Het
Or51a7 T C 7: 102,615,126 (GRCm39) I273T probably damaging Het
Phb2 A G 6: 124,690,998 (GRCm39) Q52R probably benign Het
Plekhh1 T A 12: 79,125,738 (GRCm39) V1258E probably benign Het
Pou2f1 A T 1: 165,742,685 (GRCm39) N69K probably damaging Het
Rapsn T A 2: 90,873,585 (GRCm39) M297K probably benign Het
Senp5 A C 16: 31,808,588 (GRCm39) V195G probably damaging Het
Trim25 T C 11: 88,890,517 (GRCm39) V68A probably damaging Het
Ttc41 A T 10: 86,612,631 (GRCm39) R1301S probably damaging Het
Vcan T C 13: 89,837,864 (GRCm39) Y1600C probably damaging Het
Washc5 A G 15: 59,213,864 (GRCm39) I864T possibly damaging Het
Wif1 T A 10: 120,919,890 (GRCm39) probably null Het
Zdhhc15 G A X: 103,609,422 (GRCm39) R208C probably damaging Het
Other mutations in Or51aa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01950:Or51aa5 APN 7 103,167,472 (GRCm39) missense probably benign 0.34
IGL02897:Or51aa5 APN 7 103,167,337 (GRCm39) missense probably benign 0.01
IGL02968:Or51aa5 APN 7 103,167,466 (GRCm39) missense probably damaging 0.99
R0167:Or51aa5 UTSW 7 103,166,708 (GRCm39) nonsense probably null
R0739:Or51aa5 UTSW 7 103,166,931 (GRCm39) missense probably damaging 1.00
R2992:Or51aa5 UTSW 7 103,166,977 (GRCm39) missense probably damaging 0.98
R4094:Or51aa5 UTSW 7 103,167,244 (GRCm39) missense possibly damaging 0.93
R4451:Or51aa5 UTSW 7 103,167,184 (GRCm39) missense probably damaging 1.00
R4735:Or51aa5 UTSW 7 103,167,030 (GRCm39) missense possibly damaging 0.89
R7585:Or51aa5 UTSW 7 103,167,166 (GRCm39) missense possibly damaging 0.50
R8921:Or51aa5 UTSW 7 103,167,030 (GRCm39) missense possibly damaging 0.89
R9505:Or51aa5 UTSW 7 103,167,446 (GRCm39) missense probably benign 0.03
Posted On 2014-01-21