Antxr2 - SNV Details



 Human Rare Diseases 
Juvenile hyaline fibromatosis
Infantile systemic hyalinosis

 Gene Information 
Gene Name Antxr2
Old Gene Names for Antxr2 2310046b19rik , Aw561899
Gene Description anthrax toxin receptor 2 [Source:MGI Symbol;Acc:MGI:1919164]
MGI phenotype Mice homozygous for a null mutation display femaly infertility and are highly resistant to Bacillus anthracis or anthrax toxin induced lethality.
Uniprot Name
CCDS Name
Gene GO
receptor activity; metal ion binding; protein binding; integral component of membrane; reproductive process
Homolog in other species ANTXR2
Omim http://omim.org/entry/608041
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029338
Chromosome 5
Coordinate 97,886,607     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 26
Allele Frequency
G:R0.50
A:V0.50
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL00566
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved