|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein receptor, type II (serine/threonine kinase)|
|Synonyms||2610024H22Rik, BMPRII, BMPR-II, BMP-2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8166 (G1)|
|Chromosomal Location||59763400-59879014 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 59867581 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 611 (N611I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084701 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087435]|
|Predicted Effect||probably damaging
AA Change: N611I
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: N611I
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type II receptor that binds extracellular BMPs and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important during embryonic development. Mutations in this gene can cause pulmonary hypertension. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmpr2||
(F):5'- GACTCTATCCATCATACTGACAGC -3'
(R):5'- TGCTCCATGAGATTCTCATCAG -3'
(F):5'- CCATCATACTGACAGCATTGTG -3'
(R):5'- TCATCAGAGCTTTCCTTGAGG -3'