Incidental Mutation 'IGL01771:Olfr204'
ID153848
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: 0.088) question?
Stock #IGL01771
Quality Score
Status
Chromosome16
Chromosomal Location59310206-59318248 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59314528 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 293 (N293S)
Ref Sequence ENSEMBL: ENSMUSP00000151176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000207927] [ENSMUST00000216261]
Predicted Effect probably damaging
Transcript: ENSMUST00000072517
AA Change: N293S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: N293S

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: N293S
Predicted Effect probably damaging
Transcript: ENSMUST00000216261
AA Change: N293S

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,940,365 W185R probably damaging Het
Frmd8 A G 19: 5,869,575 L148P probably damaging Het
Gk5 T C 9: 96,177,435 C447R probably damaging Het
Hip1r T A 5: 123,999,543 V704D possibly damaging Het
Kcnj10 C A 1: 172,369,583 H221Q probably benign Het
Klk1b8 A T 7: 43,954,866 I253L probably damaging Het
Olfr1090 C T 2: 86,754,282 C152Y probably benign Het
Olfr389 A T 11: 73,776,664 I221N probably damaging Het
Olfr431-ps1 T C 1: 174,051,321 probably benign Het
Olfr51 A G 11: 51,007,766 T265A probably benign Het
Pdp2 A T 8: 104,594,122 Y201F probably benign Het
Ppfia1 A T 7: 144,482,357 I1112K probably benign Het
Ppwd1 A G 13: 104,217,116 I378T probably damaging Het
Rhbdd1 T A 1: 82,377,592 D248E probably benign Het
Sec14l5 T C 16: 5,178,630 probably null Het
Sel1l3 T G 5: 53,121,841 D960A probably damaging Het
Slc35f3 T C 8: 126,389,212 Y293H probably benign Het
Wwc1 A G 11: 35,853,358 probably null Het
Zan T C 5: 137,393,068 N4718S unknown Het
Zfyve16 T C 13: 92,522,172 I410M probably benign Het
Other mutations in Olfr204
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Olfr204 APN 16 59315110 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 On2014-02-04