|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 #||R5397 (G1)|
|Chromosomal Location||101174067-101213684 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101198964 bp|
|Amino Acid Change||Valine to Aspartic acid at position 254 (V254D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000544 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000544]|
|Predicted Effect||probably damaging
AA Change: V254D
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: V254D
|Coding Region Coverage||
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'- TTTGGCCTACAGGGTTACCC -3'
(R):5'- AATAACCCAGGTTCCGTGTGAG -3'
(F):5'- CCTTTTTGTCCAGCGCACAG -3'
(R):5'- CGTGTGAGCATCTTGGCATAAAATG -3'