Incidental Mutation 'IGL02426:Olfr503'
ID292894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr503
Ensembl Gene ENSMUSG00000060759
Gene Nameolfactory receptor 503
SynonymsGA_x6K02T2PBJ9-10874315-10875286, Olfr1548, MOR34-8P, MOR34-9, MOR34-9, MOR34-12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02426
Quality Score
Status
Chromosome7
Chromosomal Location108544527-108545498 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108544980 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 150 (T150A)
Ref Sequence ENSEMBL: ENSMUSP00000147778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]
Predicted Effect probably benign
Transcript: ENSMUST00000078162
AA Change: T152A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: T152A

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 3e-103 PFAM
Pfam:7TM_GPCR_Srsx 39 268 2.4e-7 PFAM
Pfam:7tm_1 45 297 9.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211693
AA Change: T150A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,338,925 T1294M probably damaging Het
Bad A G 19: 6,951,417 S128G probably damaging Het
Casp9 T G 4: 141,812,204 probably null Het
Ccdc39 T C 3: 33,825,398 K507R possibly damaging Het
Cep76 A G 18: 67,634,917 S182P probably benign Het
Cmtr2 A G 8: 110,221,690 M211V possibly damaging Het
Cobl T A 11: 12,254,351 K777* probably null Het
Cul9 T G 17: 46,523,258 T1253P possibly damaging Het
Dmd T A X: 84,848,736 L3002H probably damaging Het
Dnah9 C T 11: 66,125,153 V421I probably benign Het
Eif4a2 A G 16: 23,110,649 I234V probably benign Het
Epha4 T C 1: 77,444,877 M323V probably benign Het
Fam47c A G X: 78,738,337 D175G probably benign Het
Gm13101 T C 4: 143,966,659 D83G possibly damaging Het
Gm14178 T C 11: 99,747,515 Het
Gpr1 T C 1: 63,183,668 Y136C probably damaging Het
Hes3 T C 4: 152,286,940 N184S probably benign Het
Kdm6a A G X: 18,246,310 E45G probably damaging Het
Kdr T C 5: 75,974,466 K33E probably benign Het
Olfr1097 A G 2: 86,890,620 L185S probably damaging Het
Olfr1281 A T 2: 111,328,575 D52V probably damaging Het
Olfr1295 A T 2: 111,564,538 I302K probably benign Het
Olfr437 A C 6: 43,167,088 D10A probably benign Het
Pi4ka A T 16: 17,378,432 probably benign Het
Pigk T A 3: 152,742,483 probably null Het
Pikfyve A G 1: 65,251,612 T1197A possibly damaging Het
Plppr4 T C 3: 117,322,295 I638V probably benign Het
Rtl9 T C X: 143,103,102 V1170A probably damaging Het
Ryr3 A G 2: 112,900,905 S687P possibly damaging Het
Skint5 T C 4: 113,940,784 T201A probably benign Het
Socs5 G T 17: 87,134,892 R420L probably damaging Het
Sos1 C T 17: 80,434,943 S385N possibly damaging Het
Tomm34 A T 2: 164,064,955 V106D probably damaging Het
Tubal3 T C 13: 3,932,750 S177P probably damaging Het
Wbp2nl G A 15: 82,306,173 A101T probably damaging Het
Other mutations in Olfr503
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Olfr503 APN 7 108544726 nonsense probably null
IGL02031:Olfr503 APN 7 108544930 missense probably benign 0.03
IGL02502:Olfr503 APN 7 108544639 missense probably damaging 1.00
IGL03208:Olfr503 APN 7 108545119 missense probably benign 0.02
R0507:Olfr503 UTSW 7 108545085 missense probably damaging 0.98
R0967:Olfr503 UTSW 7 108544789 missense probably damaging 1.00
R1181:Olfr503 UTSW 7 108545302 missense probably benign 0.00
R1501:Olfr503 UTSW 7 108544575 missense probably benign
R1596:Olfr503 UTSW 7 108545083 missense possibly damaging 0.90
R1657:Olfr503 UTSW 7 108545377 missense possibly damaging 0.50
R1708:Olfr503 UTSW 7 108544574 missense probably benign 0.04
R2215:Olfr503 UTSW 7 108544888 missense probably damaging 1.00
R4131:Olfr503 UTSW 7 108544537 nonsense probably null
R4772:Olfr503 UTSW 7 108544885 missense probably damaging 0.98
R5009:Olfr503 UTSW 7 108544848 missense probably benign 0.01
R5297:Olfr503 UTSW 7 108545404 missense probably damaging 1.00
R5788:Olfr503 UTSW 7 108545344 missense probably damaging 0.97
R5944:Olfr503 UTSW 7 108545277 missense possibly damaging 0.90
R6522:Olfr503 UTSW 7 108544995 missense probably benign 0.09
R7045:Olfr503 UTSW 7 108545245 missense probably damaging 1.00
R7339:Olfr503 UTSW 7 108544900 missense probably damaging 1.00
Posted On2015-04-16