|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 8b|
|Is this an essential gene?||Probably non essential (E-score: 0.155)|
|Stock #||R5795 (G1)|
|Chromosomal Location||123105165-123132099 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 123121968 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 249 (F249L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002457 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000102648]|
AA Change: F249L
PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: F249L
|Coding Region Coverage||
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein may play a role in the generation of primordial germ cells, and has been shown to stimulate thermogenesis in brown adipose tissue. Male mice lacking a functional copy of this gene exhibit variable degrees of germ-cell deficiency. Homozygous knockout mice of both sexes exhibit impaired thermogenesis and reduced metabolic rate, resulting in weight gain. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]
PHENOTYPE: Incidence of lethality among homozygous null mutants is variable depending on genetic background and due to allantoic and embryonic abnormalities. Heterozygous and surviving homozygous males exhibit varying degrees of germ cell deficiency and infertility, also background dependent. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp8b||
(F):5'- TACGGAGGTCCCTGTTTCTGTC -3'
(R):5'- TGAGGGACTGGAAGGTACTC -3'
(F):5'- TGTCACCTCAGACCTGCTGG -3'
(R):5'- GACTGGAAGGTACTCCACTCTAAAG -3'