Il23r - SNV Details



 Human Rare Diseases 
Behcet disease

 Gene Information 
Gene Name Il23r
Gene Description interleukin 23 receptor [Source:MGI Symbol;Acc:MGI:2181693]
MGI phenotype Th17 T cells from homozygous null mice have less secretion of IL-9 upon secondary stimulation.
Uniprot Name
CCDS Name
Gene GO
JAK-STAT cascade; response to lipopolysaccharide; negative regulation of interleukin-10 production; interleukin-23-mediated signaling pathway; positive regulation of interleukin-12 production; interleukin-12 receptor binding; integral to plasma membrane; cytokine-mediated signaling pathway; protein binding; inflammatory response; interleukin-23 binding; response to interferon-gamma; positive regulation of interferon-gamma production; interleukin-23 receptor activity; leukocyte mediated immunity; interleukin-23 receptor complex
Homolog in other species IL23R
Omim http://omim.org/entry/607562
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049093
Chromosome 6
Coordinate 67,423,578     (Assembly: GRCm38)    
Ref Base A
Codon Change aaT/aaA
Var Base T
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.41
T:V0.58
Amino Acid Position 589
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL02160
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 67 Other Mutations

 Predictions 
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved