Incidental Mutation 'IGL03275:Or5p59'
ID 415374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p59
Ensembl Gene ENSMUSG00000078118
Gene Name olfactory receptor family 5 subfamily P member 59
Synonyms Olfr483, MOR204-12, GA_x6K02T2PBJ9-10432095-10433042
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03275
Quality Score
Status
Chromosome 7
Chromosomal Location 107702518-107703465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107702815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 100 (C100S)
Ref Sequence ENSEMBL: ENSMUSP00000150898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104917] [ENSMUST00000215159]
AlphaFold Q8VG05
Predicted Effect probably damaging
Transcript: ENSMUST00000104917
AA Change: C100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100517
Gene: ENSMUSG00000078118
AA Change: C100S

DomainStartEndE-ValueType
Pfam:7tm_4 34 312 1.6e-51 PFAM
Pfam:7tm_1 44 294 2.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209740
AA Change: C100S
Predicted Effect probably damaging
Transcript: ENSMUST00000215159
AA Change: C100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
1700030K09Rik T A 8: 73,198,968 (GRCm39) L125H probably damaging Het
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
Aspm T A 1: 139,415,033 (GRCm39) I1438N probably damaging Het
Bicdl1 A G 5: 115,869,219 (GRCm39) Y134H probably damaging Het
Btnl1 A T 17: 34,604,486 (GRCm39) K422N probably damaging Het
Ccdc158 T A 5: 92,777,491 (GRCm39) I941F probably benign Het
Crnn A G 3: 93,056,725 (GRCm39) K504E possibly damaging Het
Csmd1 T A 8: 16,207,106 (GRCm39) I1308L probably benign Het
Cwf19l1 T C 19: 44,111,696 (GRCm39) M246V probably benign Het
Desi1 T A 15: 81,887,963 (GRCm39) I36F probably damaging Het
Foxf2 A G 13: 31,810,514 (GRCm39) N151S probably damaging Het
Fryl A G 5: 73,305,376 (GRCm39) V35A possibly damaging Het
Ftdc1 T C 16: 58,436,119 (GRCm39) Y68C probably damaging Het
Gabrg3 T C 7: 56,423,095 (GRCm39) Y201C probably damaging Het
Grb10 T A 11: 11,883,591 (GRCm39) T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 (GRCm39) *371W probably null Het
Irf7 C A 7: 140,845,059 (GRCm39) R49L probably damaging Het
Itpr2 T C 6: 146,060,375 (GRCm39) probably benign Het
Jam3 T C 9: 27,012,545 (GRCm39) T201A probably damaging Het
Msantd5f6 T A 4: 73,321,653 (GRCm39) R127S possibly damaging Het
Mst1 T C 9: 107,961,587 (GRCm39) S606P possibly damaging Het
Otog A G 7: 45,955,654 (GRCm39) E2800G probably damaging Het
Ptpro C T 6: 137,427,004 (GRCm39) P292S probably damaging Het
Rab10 A T 12: 3,306,959 (GRCm39) Y79N probably damaging Het
Rc3h1 T C 1: 160,787,125 (GRCm39) probably null Het
Slc2a3 C T 6: 122,713,701 (GRCm39) probably null Het
Sptbn2 T C 19: 4,782,689 (GRCm39) Y542H possibly damaging Het
Tas2r110 T C 6: 132,845,061 (GRCm39) F31L probably damaging Het
Thoc2l T A 5: 104,666,143 (GRCm39) C222S probably benign Het
Ttn A G 2: 76,547,688 (GRCm39) S32161P probably damaging Het
Ttn A G 2: 76,775,451 (GRCm39) S1864P probably damaging Het
Vmn1r228 A G 17: 20,997,104 (GRCm39) I138T probably damaging Het
Vmn2r10 T A 5: 109,151,243 (GRCm39) T124S probably benign Het
Other mutations in Or5p59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Or5p59 APN 7 107,702,851 (GRCm39) missense probably benign
IGL03028:Or5p59 APN 7 107,703,380 (GRCm39) missense probably damaging 0.99
R0671:Or5p59 UTSW 7 107,703,363 (GRCm39) nonsense probably null
R1403:Or5p59 UTSW 7 107,702,822 (GRCm39) missense probably benign 0.06
R1403:Or5p59 UTSW 7 107,702,822 (GRCm39) missense probably benign 0.06
R1646:Or5p59 UTSW 7 107,702,798 (GRCm39) missense probably benign 0.03
R1655:Or5p59 UTSW 7 107,702,671 (GRCm39) missense probably damaging 1.00
R2334:Or5p59 UTSW 7 107,702,555 (GRCm39) missense probably benign 0.02
R2904:Or5p59 UTSW 7 107,702,806 (GRCm39) missense probably benign 0.12
R3816:Or5p59 UTSW 7 107,702,705 (GRCm39) missense possibly damaging 0.90
R3817:Or5p59 UTSW 7 107,702,705 (GRCm39) missense possibly damaging 0.90
R3818:Or5p59 UTSW 7 107,702,705 (GRCm39) missense possibly damaging 0.90
R3819:Or5p59 UTSW 7 107,702,705 (GRCm39) missense possibly damaging 0.90
R5828:Or5p59 UTSW 7 107,703,005 (GRCm39) missense possibly damaging 0.51
R5949:Or5p59 UTSW 7 107,703,404 (GRCm39) missense probably damaging 1.00
R6120:Or5p59 UTSW 7 107,703,340 (GRCm39) missense probably damaging 1.00
R6143:Or5p59 UTSW 7 107,703,335 (GRCm39) missense probably damaging 0.96
R6505:Or5p59 UTSW 7 107,702,774 (GRCm39) missense probably benign 0.00
R7718:Or5p59 UTSW 7 107,702,855 (GRCm39) missense probably benign 0.00
R7946:Or5p59 UTSW 7 107,703,053 (GRCm39) missense probably benign 0.10
R8138:Or5p59 UTSW 7 107,702,764 (GRCm39) missense possibly damaging 0.73
R9248:Or5p59 UTSW 7 107,703,256 (GRCm39) missense probably damaging 1.00
R9594:Or5p59 UTSW 7 107,702,663 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02