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|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3975 (G1)|
|Chromosomal Location||33941039-33947198 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 33944834 bp|
|Amino Acid Change||Valine to Aspartic acid at position 171 (V171D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098286 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000100720]|
|Predicted Effect||probably damaging
AA Change: V171D
PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: V171D
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||95% (59/62)|
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. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Homozygous null mice exhibit malformations of the vasculature and skeleton. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show arteriovenous malformations, skeletal anomalies, and abnormal retinal vasculature after anti-BMP10-antibody treatment. Homozygotes for a different null allele show abnormal retinal and tracheal vasculature and tracheal lymphatic vessels after anti-BMP10 treatment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf2||
(F):5'- TGCTATATCGACAGCTGCCAC -3'
(R):5'- TTTGGAACCTGGAGGGACAC -3'
(F):5'- CGGAGGACTTCCCCTTTCAGAAG -3'
(R):5'- ATGTCCAGTGTGTCACAGC -3'