Incidental Mutation 'IGL02440:Olfr1504'
ID293413
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: 0.069) question?
Stock #IGL02440
Quality Score
Status
Chromosome19
Chromosomal Location13886920-13897928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13887859 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 117 (M117K)
Ref Sequence ENSEMBL: ENSMUSP00000146610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078282] [ENSMUST00000209192]
Predicted Effect probably damaging
Transcript: ENSMUST00000078282
AA Change: M117K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077400
Gene: ENSMUSG00000059105
AA Change: M117K

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: M117K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 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
IGL01084:Olfr1504 APN 19 13887502 missense probably damaging 1.00
IGL01522:Olfr1504 APN 19 13887358 nonsense probably null
IGL01727:Olfr1504 APN 19 13887878 missense probably damaging 0.98
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 On2015-04-16