|Institutional Source||Beutler Lab|
|Gene Name||DS cell adhesion molecule|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0117 (G1)|
|Chromosomal Location||96592079-97170752 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 96673678 bp|
|Amino Acid Change||Histidine to Arginine at position 1228 (H1228R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056040 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056102]|
|Predicted Effect||probably benign
AA Change: H1228R
PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: H1228R
|Meta Mutation Damage Score||0.0883|
|Coding Region Coverage||
|Validation Efficiency||95% (59/62)|
|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'- CCTGGGAAGCTGCCAGATAAACAAG -3'
(R):5'- GCTACATTCCACCCTGTGACTAACC -3'
(F):5'- CGTAATAAAGCAGGAGTCTTCTGG -3'
(R):5'- TGTGACTAACCCTGGATTTTCC -3'