|Institutional Source||Beutler Lab|
|Gene Name||syndecan binding protein (syntenin) 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.283)|
|Stock #||R0102 (G1)|
|Chromosomal Location||151572622-151590005 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 151583964 bp|
|Amino Acid Change||Threonine to Alanine at position 29 (T29A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028950 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028950]|
|Predicted Effect||probably benign
AA Change: T29A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T29A
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sdcbp2||
(F):5'- TGAGTGAGCACATGCAGCTACC -3'
(R):5'- TTTGAGACCACTAGGGACCACAGG -3'
(F):5'- TGCAGCTACCACAAGTCTAC -3'
(R):5'- TGAGCTTCTAAATGGGCTACC -3'