Incidental Mutation 'IGL02048:Olfr549'
ID184991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr549
Ensembl Gene ENSMUSG00000073977
Gene Nameolfactory receptor 549
SynonymsMOR31-3, GA_x6K02T2PBJ9-5274337-5275287
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02048
Quality Score
Status
Chromosome7
Chromosomal Location102549870-102555842 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102554883 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 200 (Y200H)
Ref Sequence ENSEMBL: ENSMUSP00000150373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000098227] [ENSMUST00000106913] [ENSMUST00000217478]
Predicted Effect probably benign
Transcript: ENSMUST00000033264
SMART Domains Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098227
AA Change: Y200H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977
AA Change: Y200H

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.7e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 225 1.2e-11 PFAM
Pfam:7tm_1 43 294 1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106913
SMART Domains Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217478
AA Change: Y200H

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,069,831 D1288N probably damaging Het
Abcc1 T C 16: 14,411,519 F372L probably damaging Het
Adcy2 G T 13: 68,888,067 N158K possibly damaging Het
Apba1 A G 19: 23,937,636 probably null Het
Arap3 T C 18: 37,996,979 E43G possibly damaging Het
Bet1 A T 6: 4,082,456 probably null Het
Blm A G 7: 80,502,961 probably benign Het
Brinp1 T C 4: 68,763,142 I384V probably benign Het
Cyp3a13 T C 5: 137,918,995 probably benign Het
Dlg5 A T 14: 24,172,203 I480N possibly damaging Het
Exoc3l4 A G 12: 111,428,483 K538R probably benign Het
Flna G T X: 74,228,500 T2008K probably benign Het
Hc T A 2: 34,996,027 Q1388L probably benign Het
Ifitm1 T C 7: 140,968,292 S13P probably benign Het
Il1rapl2 A G X: 138,789,649 I288V probably benign Het
Il31 C T 5: 123,480,490 V157M possibly damaging Het
N4bp2l1 A G 5: 150,576,638 probably null Het
Nell1 T C 7: 50,219,607 I210T probably damaging Het
Olfr872 T A 9: 20,260,488 I216N possibly damaging Het
Phf1 A G 17: 26,934,541 probably benign Het
Phf10 G A 17: 14,945,149 P482S probably benign Het
Ppp6r3 T G 19: 3,473,848 M522L possibly damaging Het
Qtrt1 T C 9: 21,417,355 L205P probably damaging Het
Vmn2r11 T C 5: 109,054,792 I140V probably benign Het
Xylt2 C T 11: 94,666,345 E107K possibly damaging Het
Zfp512b A T 2: 181,589,922 F155Y possibly damaging Het
Zfyve27 A G 19: 42,185,857 D314G probably damaging Het
Other mutations in Olfr549
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Olfr549 APN 7 102554891 missense probably damaging 1.00
IGL02314:Olfr549 APN 7 102555111 missense probably damaging 1.00
IGL03154:Olfr549 APN 7 102554706 missense probably benign
R0783:Olfr549 UTSW 7 102554439 missense probably benign 0.01
R2009:Olfr549 UTSW 7 102554944 missense probably damaging 1.00
R2145:Olfr549 UTSW 7 102555060 splice site probably null
R3547:Olfr549 UTSW 7 102554470 missense probably damaging 1.00
R6843:Olfr549 UTSW 7 102554721 missense probably benign
R7294:Olfr549 UTSW 7 102554953 missense probably damaging 1.00
R7533:Olfr549 UTSW 7 102554511 missense probably damaging 1.00
X0018:Olfr549 UTSW 7 102554728 missense probably benign 0.00
Z1177:Olfr549 UTSW 7 102554971 missense probably benign
Posted On2014-05-07