|Institutional Source||Beutler Lab|
|Gene Name||sidekick cell adhesion molecule 2|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R0088 (G1)|
|Chromosomal Location||113776374-114067046 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 113827086 bp|
|Amino Acid Change||Asparagine to Serine at position 1484 (N1484S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038972 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041627]|
|Predicted Effect||possibly damaging
AA Change: N1484S
PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: N1484S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8194|
|Coding Region Coverage||
|Validation Efficiency||82% (32/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sdk2||
(F):5'- TAGTGAGCCATCTCTCACCGACAG -3'
(R):5'- TCAAGCAGGAATGGATGAGACCCC -3'
(F):5'- ATCTCTCACCGACAGGGGTC -3'
(R):5'- gtcccagtgatgtgcttcc -3'