|Institutional Source||Beutler Lab|
|Gene Name||gremlin 1, DAN family BMP antagonist|
|Synonyms||Drm, Grem, Cktsf1b1, gremlin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6689 (G1)|
|Chromosomal Location||113746164-113758646 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 113749931 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 75 (E75G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097170 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099575]|
|Predicted Effect||probably benign
AA Change: E75G
PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: E75G
|Coding Region Coverage||
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. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice display neonatal lethality with bilateral agenesis of the kidneys and ureters, oligodactyly, limb skeletal malformations, cyanosis, dyspnea, and abnormal lung morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grem1||
(F):5'- AGCAAGACTGAAAGGACCCTTC -3'
(R):5'- ATACACTGTGGGAGCGTTGC -3'
(F):5'- GGACCCTTCCTCCTTTCGGATG -3'
(R):5'- GGGAGCGTTGCTTCTCCTC -3'