|Institutional Source||Beutler Lab|
|Gene Name||DAN domain family member 5, BMP antagonist|
|Synonyms||Cerl-2, Cerr2, coco, Dte|
|Is this an essential gene?||Probably non essential (E-score: 0.233)|
|Stock #||R0600 (G1)|
|Chromosomal Location||84815405-84822823 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 84816292 bp|
|Amino Acid Change||Leucine to Glutamine at position 185 (L185Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070057 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065539]|
|Predicted Effect||probably damaging
AA Change: L185Q
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: L185Q
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (95/96)|
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 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 bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display partial neonatal lethality with left pulmonary isomerism, abnormal heart looping, atrial and ventricular septal defects and thoracic situs inversus and surviving pups display partial premature death with abdominal organ position abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dand5||
(F):5'- TGTTCCCTCTCACACAGGGCTAATC -3'
(R):5'- TTGAAACAGCCTCCAGCCTTCAGC -3'
(F):5'- ccctctcccactgagttatacc -3'
(R):5'- TAGTCCTAGACTCCACAGTGC -3'