|Institutional Source||Beutler Lab|
|Gene Name||BMP and activin membrane-bound inhibitor|
|Is this an essential gene?||Probably non essential (E-score: 0.179)|
|Stock #||R5972 (G1)|
|Chromosomal Location||3507957-3516404 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 3512354 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 246 (V246E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025075 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025075]|
|Predicted Effect||probably damaging
AA Change: V246E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V246E
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null allele weigh 9% to 10% less than wild-type female mice. Male mice are unaffected. Mice homozygous for one knock-out allele exhibit increased chemical, thermal, and mechanical nociception and decreased nerve injury-induced allodynia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bambi||
(F):5'- TATGTTGGCCTTGCGAATGC -3'
(R):5'- CCCAAGATTCTCTTTTCAGAGGTC -3'
(F):5'- CTGCAGGATGAGCGGCAG -3'
(R):5'- CAGAGGTCATTTTGTTTCTCCAAG -3'