Incidental Mutation 'IGL01950:Or51aa5'
ID 181290
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 # IGL01950
Quality Score
Status
Chromosome 7
Chromosomal Location 103166618-103167589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103167472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 40 (T40S)
Ref Sequence ENSEMBL: ENSMUSP00000149114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078108] [ENSMUST00000216074]
AlphaFold K7N609
Predicted Effect probably benign
Transcript: ENSMUST00000078108
AA Change: T40S

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077246
Gene: ENSMUSG00000096584
AA Change: T40S

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 benign
Transcript: ENSMUST00000216074
AA Change: T40S

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm G A 7: 110,228,107 (GRCm39) R96H probably damaging Het
Aebp1 C T 11: 5,819,108 (GRCm39) T198I probably benign Het
Arid3b A T 9: 57,702,257 (GRCm39) I500N probably damaging Het
Clec1b T A 6: 129,377,043 (GRCm39) W29R probably damaging Het
Cyp2e1 T C 7: 140,344,874 (GRCm39) probably null Het
Dnah5 A G 15: 28,290,435 (GRCm39) E1275G probably null Het
Dnajc13 A T 9: 104,067,631 (GRCm39) I1171N possibly damaging Het
Dpf3 T G 12: 83,371,723 (GRCm39) T171P probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Kcnc2 T G 10: 112,297,980 (GRCm39) probably benign Het
Kcnj11 A T 7: 45,748,573 (GRCm39) F250Y probably damaging Het
Kirrel3 C T 9: 34,939,625 (GRCm39) probably benign Het
Lmbrd1 T C 1: 24,750,683 (GRCm39) probably null Het
Mga T C 2: 119,772,135 (GRCm39) V1665A possibly damaging Het
Ms4a3 G T 19: 11,610,199 (GRCm39) A121E probably damaging Het
Nfix T C 8: 85,440,415 (GRCm39) *392W probably null Het
Noxred1 C T 12: 87,268,190 (GRCm39) V314M probably damaging Het
Or2t47 A T 11: 58,442,560 (GRCm39) C168* probably null Het
Phospho1 A G 11: 95,719,548 (GRCm39) probably benign Het
Prr5 G A 15: 84,650,550 (GRCm39) A237T probably benign Het
Rev3l C T 10: 39,697,153 (GRCm39) T550M probably damaging Het
Sbf2 A G 7: 109,965,032 (GRCm39) F955L probably benign Het
Slc38a9 C T 13: 112,831,787 (GRCm39) T179M probably damaging Het
Trpv5 T G 6: 41,652,912 (GRCm39) D87A probably benign Het
Tubgcp5 A G 7: 55,455,836 (GRCm39) Q288R possibly damaging Het
Uqcc1 A G 2: 155,700,058 (GRCm39) Y172H probably damaging Het
Vmn2r23 T C 6: 123,718,845 (GRCm39) F733L possibly damaging Het
Vmn2r71 A G 7: 85,264,827 (GRCm39) Y53C probably damaging Het
Vwa5a T A 9: 38,638,266 (GRCm39) M263K probably damaging Het
Zfp503 C A 14: 22,036,488 (GRCm39) A143S probably benign Het
Zfp958 T C 8: 4,678,917 (GRCm39) L314P probably damaging Het
Other mutations in Or51aa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Or51aa5 APN 7 103,167,141 (GRCm39) missense probably damaging 1.00
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 2014-05-07