|Institutional Source||Beutler Lab|
|Gene Name||activin receptor IIA|
|Synonyms||ActRIIa, Acvr2, tActRII|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1371 (G1)|
|Chromosomal Location||48814109-48903269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 48899616 bp|
|Amino Acid Change||Threonine to Methionine at position 457 (T457M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067305 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028098] [ENSMUST00000063886]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: T457M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T457M
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acvr2a||
(F):5'- TCACTCACATGCAGAGGCAGAAAG -3'
(R):5'- TTAGCAGCTCCAGTTCAGAGTCCC -3'
(F):5'- GCTGGCTTGCATAATACACC -3'
(R):5'- AGTTCAGAGTCCCAGTCCTCAG -3'