|Institutional Source||Beutler Lab|
|Gene Name||consortin, connexin sorting protein|
|Is this an essential gene?||Probably non essential (E-score: 0.114)|
|Stock #||R5294 (G1)|
|Chromosomal Location||179546370-179627478 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 179610440 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 523 (E523G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048205 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040706]|
|Predicted Effect||probably benign
AA Change: E523G
PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: E523G
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cnst||
(F):5'- AGGACGCATTTGAAGCGCTG -3'
(R):5'- TGGCCAGATCATCAAGGGAG -3'
(F):5'- ATTTGAAGCGCTGCCCAG -3'
(R):5'- TCATCAAGGGAGAGCGTGCTC -3'