Acvr2a - SNV Details



 Gene Information 
Gene Name Acvr2a
Old Gene Names for Acvr2a Acvr2
Gene Description activin receptor IIA [Source:MGI Symbol;Acc:MGI:102806]
MGI phenotype While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction.
Uniprot Name
CCDS Name
Gene GO
positive regulation of erythrocyte differentiation; growth factor binding; transmembrane receptor protein serine/threonine kinase activity; mesoderm development; protein kinase activity; membrane; male gonad development; activin-activated receptor activity; spermatogenesis; integral to membrane; anterior/posterior pattern specification; cytoplasm; positive regulation of protein phosphorylation; BMP signaling pathway; metal ion binding; regulation of signal transduction; response to organic substance; gastrulation with mouth forming second; activin binding; sperm ejaculation; transferase activity
transferring phosphorus-containing groups; protein binding; activin receptor activity
type II; cell surface; embryonic skeletal system development; protein self-association; penile erection; PDZ domain binding; Sertoli cell proliferation; inhibin-betaglycan-ActRII complex; determination of left/right symmetry; protein phosphorylation; protein tyrosine kinase activity; ATP binding; inhibin binding; plasma membrane; positive regulation of pathway-restricted SMAD protein phosphorylation; receptor signaling protein serine/threonine kinase activity; positive regulation of follicle-stimulating hormone secretion; coreceptor activity; transforming growth factor beta-activated receptor activity; regulation of BMP signaling pathway; regulation of nitric-oxide synthase activity; positive regulation of bone mineralization; positive regulation of activin receptor signaling pathway; protein serine/threonine kinase activity; positive regulation of osteoblast differentiation
Homolog in other species ACVR2A
Omim http://omim.org/entry/102581
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052155
Chromosome 2
Coordinate 48,899,613     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 456
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01913
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.8
Polyphen Prediction Possibly damaging
Sift Score 0.02
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000067305:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Tyrosine-protein kinase, catalytic domain Tyr_kinase_cat_dom IPR020635 ENSMUSP00000067305 Smart 192
479 Description available Search pathways
Serine-threonine/tyrosine-protein kinase catalytic domain Ser-Thr/Tyr_kinase_cat_dom IPR001245 ENSMUSP00000067305 Pfam 198
471 Description available Search pathways
Protein kinase-like domain Kinase-like_dom IPR011009 ENSMUSP00000067305 Superfamily 162
487 Description available Search pathways
Protein kinase domain Prot_kinase_cat_dom IPR000719 ENSMUSP00000067305 Prosite_profiles 192
485 Description available Search pathways
Serine/threonine- / dual specificity protein kinase, catalytic domain Ser/Thr_dual-sp_kinase_dom IPR002290 ENSMUSP00000067305 Smart 192
485 Description available Search pathways
Ser/Thr protein kinase, TGFB receptor Activin_II/TGFBeta-II_recpt IPR000333 ENSMUSP00000067305 Prints 450
469 Description available Search pathways
Protein kinase domain Prot_kinase_cat_dom IPR000719 ENSMUSP00000067305 Pfam 193
475 Description available Search pathways

 Availability Details 
Availability Cryopreserved