Osmr - SNV Details



 Human Rare Diseases 
Lichen amyloidosis

 Gene Information 
Gene Name Osmr
Gene Description oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]
MGI phenotype Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.
Uniprot Name
CCDS Name
Gene GO
growth factor binding; oncostatin-M receptor activity; catalytic activity; metal ion binding; integral to plasma membrane; protein binding; oncostatin-M receptor complex; oncostatin-M-mediated signaling pathway; response to cytokine stimulus; cell surface receptor signaling pathway; positive regulation of cell proliferation
Homolog in other species OSMR
Omim http://omim.org/entry/601743
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022146
Chromosome 15
Coordinate 6,828,663     (Assembly: GRCm38)    
Ref Base A
Codon Change aaT/aaA
Var Base T
Zygosity Heterozygous
Read Depth 87
Allele Frequency
A:R0.56
T:V0.44
Amino Acid Position 441
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL01780
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Sift Score 0.95
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved