Csf2rb - SNV Details



 Human Rare Diseases 
Congenital pulmonary alveolar proteinosis

 Gene Information 
Gene Name Csf2rb
Old Gene Names for Csf2rb Il3rb1 , Il5rb , Ai848964 , Csf2rb1
Gene Description colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) [Source:MGI Symbol;Acc:MGI:1339759]
MGI phenotype Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cytokine receptor activity; cytokine-mediated signaling pathway; protein binding
Homolog in other species CSF2RB
Omim http://omim.org/entry/138981
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000071713
Chromosome 15
Coordinate 78,341,724     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
C:R0.43
T:V0.57
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL02479
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved