Incidental Mutation 'IGL01915:Olfr204'
ID179893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr204
Ensembl Gene ENSMUSG00000095928
Gene Nameolfactory receptor 204
SynonymsGA_x54KRFPKG5P-55529713-55528796, MOR182-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01915
Quality Score
Status
Chromosome16
Chromosomal Location59310206-59318248 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59315110 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 99 (Q99L)
Ref Sequence ENSEMBL: ENSMUSP00000151176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000207927] [ENSMUST00000216261]
Predicted Effect probably damaging
Transcript: ENSMUST00000072517
AA Change: Q99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: Q99L

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 1.5e-49 PFAM
Pfam:7TM_GPCR_Srsx 34 299 2.3e-9 PFAM
Pfam:7tm_1 40 289 3.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207927
AA Change: Q99L
Predicted Effect probably damaging
Transcript: ENSMUST00000216261
AA Change: Q99L

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
1600015I10Rik T A 6: 48,931,648 D527E probably damaging Het
Abt1 T C 13: 23,423,768 E22G unknown Het
Atp11b T G 3: 35,831,463 H668Q probably damaging Het
Birc6 T A 17: 74,631,720 V2687D probably benign Het
Cadm3 T C 1: 173,341,108 T298A possibly damaging Het
Car12 G A 9: 66,763,270 A174T possibly damaging Het
Ccdc180 T C 4: 45,904,544 L380P probably damaging Het
Col7a1 A T 9: 108,955,745 R214W unknown Het
Cyp2d26 T G 15: 82,790,249 R477S probably benign Het
Dgkd T C 1: 87,926,058 V541A possibly damaging Het
Dip2b T A 15: 100,178,511 F797I probably damaging Het
Dot1l A T 10: 80,780,894 N63I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Ints5 T C 19: 8,896,993 I772T probably benign Het
Nosip T A 7: 45,076,859 I230N probably damaging Het
Olfr1423 A T 19: 12,036,097 L215Q probably damaging Het
Olfr457 A T 6: 42,471,289 D296E probably benign Het
Olfr800 G A 10: 129,660,650 M281I probably benign Het
Orc5 A T 5: 22,522,383 probably benign Het
Parp1 A G 1: 180,598,342 I879M probably damaging Het
Pcdh18 A G 3: 49,744,921 S1031P probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Rccd1 T C 7: 80,320,218 probably benign Het
Rsad1 A G 11: 94,548,977 probably null Het
Samd9l A T 6: 3,373,864 C1132* probably null Het
Sema6d A G 2: 124,658,571 probably benign Het
Slc10a5 T C 3: 10,335,520 N27D probably damaging Het
Slco1a5 C T 6: 142,243,873 M462I probably benign Het
Tyw5 T C 1: 57,401,469 T45A probably damaging Het
Usp21 T A 1: 171,282,733 Q489L possibly damaging Het
Vmn2r20 A G 6: 123,393,965 S519P possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Olfr204
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01771:Olfr204 APN 16 59314528 missense probably damaging 1.00
R0265:Olfr204 UTSW 16 59315071 missense probably damaging 1.00
R0532:Olfr204 UTSW 16 59314601 missense probably benign 0.00
R1719:Olfr204 UTSW 16 59314706 nonsense probably null
R1864:Olfr204 UTSW 16 59315015 missense probably damaging 1.00
R1889:Olfr204 UTSW 16 59314963 missense probably damaging 0.98
R1925:Olfr204 UTSW 16 59314664 missense probably damaging 1.00
R2973:Olfr204 UTSW 16 59315404 start codon destroyed probably null 1.00
R3078:Olfr204 UTSW 16 59314726 missense probably benign
R3819:Olfr204 UTSW 16 59315071 missense probably damaging 1.00
R4036:Olfr204 UTSW 16 59314750 missense probably benign
R4698:Olfr204 UTSW 16 59315357 missense probably damaging 1.00
R4930:Olfr204 UTSW 16 59314873 missense probably damaging 1.00
R5457:Olfr204 UTSW 16 59314850 missense probably benign 0.12
R6597:Olfr204 UTSW 16 59315350 missense probably benign 0.00
R7341:Olfr204 UTSW 16 59315149 missense possibly damaging 0.69
R7512:Olfr204 UTSW 16 59315027 missense probably damaging 0.99
R7702:Olfr204 UTSW 16 59314634 missense probably damaging 1.00
R8132:Olfr204 UTSW 16 59314544 missense possibly damaging 0.55
Posted On2014-05-07