|Institutional Source||Beutler Lab|
|Gene Name||gremlin 2, DAN family BMP antagonist|
|Is this an essential gene?||Probably non essential (E-score: 0.084)|
|Stock #||R4991 (G1)|
|Chromosomal Location||174833785-174921819 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 174836813 bp|
|Amino Acid Change||Cysteine to Arginine at position 157 (C157R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049640 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055294]|
|PDB Structure||Crystal structure of Protein Related to DAN and Cerberus (PRDC) [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: C157R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C157R
|Meta Mutation Damage Score||0.9505|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show small and malformed mandibular and maxillary incisors and slightly increased bone mineral density but appear otherwise normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grem2||
(F):5'- ACTGTTGGCCCTAAGAGACAC -3'
(R):5'- CTCAAGAGTGACTGGTGCAAG -3'
(F):5'- GAGACACATTTGCTGCTGAC -3'
(R):5'- TTCTGCTACGGCCAGTGC -3'