Incidental Mutation 'IGL03336:Olfr633'
ID417040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr633
Ensembl Gene ENSMUSG00000073937
Gene Nameolfactory receptor 633
SynonymsMOR12-5, GA_x6K02T2PBJ9-6681230-6682168
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03336
Quality Score
Status
Chromosome7
Chromosomal Location103944437-103948963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103947409 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 281 (L281P)
Ref Sequence ENSEMBL: ENSMUSP00000149105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]
Predicted Effect probably damaging
Transcript: ENSMUST00000098188
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: L281P

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.3e-120 PFAM
Pfam:7TM_GPCR_Srsx 35 158 7e-10 PFAM
Pfam:7tm_1 41 292 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216006
AA Change: L281P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Olfr633
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Olfr633 APN 7 103946997 missense probably benign 0.03
IGL01728:Olfr633 APN 7 103946752 missense probably damaging 1.00
IGL02125:Olfr633 APN 7 103947072 missense probably damaging 1.00
IGL02332:Olfr633 APN 7 103946920 missense probably damaging 0.98
R0611:Olfr633 UTSW 7 103947193 missense probably damaging 1.00
R1341:Olfr633 UTSW 7 103947382 missense possibly damaging 0.95
R1971:Olfr633 UTSW 7 103946943 missense probably damaging 1.00
R2171:Olfr633 UTSW 7 103946785 missense probably damaging 1.00
R4958:Olfr633 UTSW 7 103946601 missense probably damaging 1.00
R6700:Olfr633 UTSW 7 103947324 missense probably damaging 1.00
R7585:Olfr633 UTSW 7 103947400 missense probably benign 0.01
R7640:Olfr633 UTSW 7 103946943 missense probably damaging 1.00
R8330:Olfr633 UTSW 7 103947403 missense possibly damaging 0.56
R8489:Olfr633 UTSW 7 103947121 missense probably damaging 0.99
Posted On2016-08-02