Itgb2 - SNV Details



 Human Rare Diseases 
Leukocyte adhesion deficiency type I

 Gene Information 
Gene Name Itgb2
Old Gene Names for Itgb2 Ai528527 , Cd18
Gene Description integrin beta 2 [Source:MGI Symbol;Acc:MGI:96611]
MGI phenotype Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis.
Uniprot Name
CCDS Name
Gene GO
membrane; receptor activity; cell adhesion; activated T cell proliferation; membrane raft; cell surface; cell-cell adhesion; integrin complex; cell-matrix adhesion; cellular extravasation; integrin-mediated signaling pathway; receptor binding; multicellular organismal development; neutrophil chemotaxis
Homolog in other species ITGB2
Omim http://omim.org/entry/600065
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000290
Chromosome 10
Coordinate 77,547,218     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
G:R0.43
A:V0.57
Amino Acid Change D->N (Aspartic acid -> Asparagine)
Sample ID IGL02505
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 70 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved