|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 3|
|Synonyms||Gdf-3, Vgr-2, ecat9, Vgr2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5090 (G1)|
|Chromosomal Location||122605403-122610087 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 122609754 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 71 (L71F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032211 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032211]|
|Predicted Effect||probably benign
AA Change: L71F
PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: L71F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1099|
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
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 is important in embryogenesis and likely plays a role ocular and skeletal development. Mice lacking a functional copy of this gene exhibit defects in early embryonic development resulting in embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit prenatal lethality and resistance to diet-induced obesity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf3||
(F):5'- TTGGAACCAAGACAGAATGTGC -3'
(R):5'- TGCAGCCTTATCAACGGCTTC -3'
(F):5'- TGTGCAAGATCCAAGGCC -3'
(R):5'- GGCGCTTGGCTTCCTTCTG -3'