Cr2 - SNV Details



 Human Rare Diseases 
Common variable immunodeficiency due to an intrinsic B cell defect

 Gene Information 
Gene Name Cr2
Old Gene Names for Cr2 Cr-2 , Cr1 , Cr-1
Gene Description complement receptor 2 [Source:MGI Symbol;Acc:MGI:88489]
MGI phenotype Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation.
Uniprot Name
CCDS Name
Gene GO
B cell activation; complement receptor mediated signaling pathway; receptor activity; B cell differentiation; DNA binding; protein homodimerization activity; external side of plasma membrane; protein binding; B cell proliferation; extracellular vesicular exosome; complement receptor activity; complement binding; receptor complex
Homolog in other species CR2
Omim http://omim.org/entry/120650
Immgen Expression
LOW(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM.G1, IMM.G2, SPLEEN, TRACHEA, ADIPOSETISSUE)
LOW/MEDIAN(HIGH IN IMM.G1, IMM.G2, SPLEEN, TRACHEA, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026616
Chromosome 1
Coordinate 195,154,251     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:R0.56
T:V0.44
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL00587
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.75
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved