|Institutional Source||Beutler Lab|
|Gene Name||DS cell adhesion molecule|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6792 (G1)|
|Chromosomal Location||96592079-97170752 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 96593255 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 1949 (E1949G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056040 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056102]|
|Predicted Effect||probably damaging
AA Change: E1949G
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: E1949G
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
|MGI Phenotype||Strain: 4830358; 3840666;5305025;3761008
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dscam||
(F):5'- CCAAGGTGTAAGATTTTGCGTAGG -3'
(R):5'- TTCTGCCCAGGTAAGCAATTG -3'
(F):5'- AGGGATTGTTTCCTTTCAAATGGCC -3'
(R):5'- GAAGAAACCATCTAACTCTCTTGTG -3'