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; protein homodimerization activity; external side of plasma membrane; protein binding; complement receptor activity
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 195,159,820     (Assembly: GRCm38)    
Ref Base A
Codon Change aTt/aCt
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.62
G:V0.38
Amino Acid Position 275
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01358
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000080938:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Sushi/SCR/CCP Sushi_SCR_CCP IPR000436 ENSMUSP00000080938 Prosite_profiles 275
345 Description available Search pathways
Sushi/SCR/CCP Sushi_SCR_CCP IPR000436 ENSMUSP00000080938 Superfamily 275
344 Description available Search pathways

 Availability Details 
Availability Cryopreserved