Incidental Mutation 'IGL01084:Olfr1504'
ID53232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1504
Ensembl Gene ENSMUSG00000059105
Gene Nameolfactory receptor 1504
SynonymsMOR212-2, GA_x6K02T2RE5P-4223635-4222688
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01084
Quality Score
Status
Chromosome19
Chromosomal Location13886920-13897928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 13887502 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 236 (T236N)
Ref Sequence ENSEMBL: ENSMUSP00000146610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078282] [ENSMUST00000209192]
Predicted Effect probably damaging
Transcript: ENSMUST00000078282
AA Change: T236N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077400
Gene: ENSMUSG00000059105
AA Change: T236N

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 4.3e-46 PFAM
Pfam:7tm_1 40 313 1.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209192
AA Change: T236N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,073 probably benign Het
Aagab C A 9: 63,639,619 Q284K probably damaging Het
Adgrd1 A T 5: 129,139,592 N341I probably benign Het
Arhgap40 T C 2: 158,543,218 F457S probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Catsper1 G A 19: 5,337,772 V360M probably damaging Het
Cdc42bpa T A 1: 180,142,274 probably benign Het
Cep250 C T 2: 155,998,393 H2424Y probably benign Het
Cln3 T C 7: 126,575,254 E304G probably damaging Het
Eml2 T A 7: 19,190,738 C177* probably null Het
Epha5 G A 5: 84,071,087 R917* probably null Het
Gabra2 A G 5: 71,006,233 F244L probably damaging Het
Gars C A 6: 55,055,827 D261E probably benign Het
Keg1 A G 19: 12,714,612 K98E probably damaging Het
Kif13a A G 13: 46,750,634 probably benign Het
Matn1 A G 4: 130,951,934 K300E probably benign Het
Mesp1 A G 7: 79,793,083 S149P probably benign Het
Mmp10 T C 9: 7,505,650 V305A possibly damaging Het
Muc5b T C 7: 141,843,449 probably benign Het
Myof T C 19: 37,936,436 T1181A probably damaging Het
Olfr1161 T C 2: 88,025,003 S94P probably benign Het
Olfr398 A T 11: 73,984,527 L27Q probably damaging Het
Osbpl11 T C 16: 33,226,851 probably benign Het
Prune2 T C 19: 17,118,209 V359A probably benign Het
Ptch1 T A 13: 63,543,637 E267D probably damaging Het
Rbl2 A G 8: 91,122,313 E1049G probably damaging Het
Ruvbl2 A T 7: 45,422,523 probably null Het
Sec23b A G 2: 144,564,589 I101M possibly damaging Het
Srms A C 2: 181,206,384 probably null Het
Svep1 T A 4: 58,111,419 T1067S possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem127 T C 2: 127,257,086 V180A probably damaging Het
Trpm7 A G 2: 126,846,072 probably null Het
Trpv3 G A 11: 73,294,000 probably null Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Vmn2r80 A G 10: 79,194,599 Y753C probably damaging Het
Vps13d A G 4: 145,154,955 L1350S probably benign Het
Zfp287 G T 11: 62,713,890 Y730* probably null Het
Zfp583 A G 7: 6,317,185 F276S probably damaging Het
Zfp638 T C 6: 83,944,798 Y636H probably benign Het
Other mutations in Olfr1504
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Olfr1504 APN 19 13887581 missense probably benign
IGL00885:Olfr1504 APN 19 13888168 missense probably benign 0.17
IGL01522:Olfr1504 APN 19 13887358 nonsense probably null
IGL01727:Olfr1504 APN 19 13887878 missense probably damaging 0.98
IGL02440:Olfr1504 APN 19 13887859 missense probably damaging 1.00
IGL03342:Olfr1504 APN 19 13887437 missense probably damaging 1.00
R0531:Olfr1504 UTSW 19 13887752 missense possibly damaging 0.62
R0577:Olfr1504 UTSW 19 13887803 missense probably damaging 1.00
R1028:Olfr1504 UTSW 19 13887795 missense probably damaging 0.97
R1674:Olfr1504 UTSW 19 13887590 missense probably benign 0.01
R3906:Olfr1504 UTSW 19 13887706 missense probably damaging 1.00
R4598:Olfr1504 UTSW 19 13888017 missense probably damaging 1.00
R4658:Olfr1504 UTSW 19 13887548 missense probably benign 0.19
R4676:Olfr1504 UTSW 19 13887401 missense probably damaging 1.00
R5919:Olfr1504 UTSW 19 13887845 missense probably damaging 1.00
R5943:Olfr1504 UTSW 19 13887752 missense possibly damaging 0.62
R8112:Olfr1504 UTSW 19 13887389 missense probably damaging 1.00
Posted On2013-06-21