|Institutional Source||Beutler Lab|
|Gene Name||activin A receptor, type 1B|
|Synonyms||ActR-IB, ActRIB, Alk4, SKR2, Acvrlk4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8480 (G1)|
|Chromosomal Location||101174067-101213684 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 101210839 bp|
|Amino Acid Change||Valine to Methionine at position 499 (V499M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000544 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000544]|
|Predicted Effect||possibly damaging
AA Change: V499M
PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V499M
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
PHENOTYPE: Embryos homozygous for targeted mutations that inactivate the gene arrest at the egg cylinder stage, prior to gastrulation, showing epiblast and extraembryonic ectoderm disorganization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acvr1b||
(F):5'- TGGATCTGACCTGACGAATAGG -3'
(R):5'- TCTGTCTCAAACCCAACGG -3'
(F):5'- AGCGAAGATGAGCCAGTGCC -3'
(R):5'- GGAGTGCGCGTCTCCCAG -3'