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|Institutional Source||Beutler Lab|
|Gene Name||biregional cell adhesion molecule-related/down-regulated by oncogenes (Cdon) binding protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6295 (G1)|
|Chromosomal Location||44485049-44558897 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 44492348 bp|
|Amino Acid Change||Serine to Arginine at position 586 (S586R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110281 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114634]|
|Predicted Effect||probably benign
AA Change: S586R
PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: S586R
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
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/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a null mutation display abnormal commissural axon projections. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Boc||
(F):5'- CAGACTCGGTAATTCCAGTATTTTC -3'
(R):5'- TGTATCACCTTGGTGCAGCC -3'
(F):5'- CATTGTGGTTCACTAAAGAGATGCAG -3'
(R):5'- CCTTGTCAGAGTCTTAGGCAAAACAG -3'