|Institutional Source||Beutler Lab|
|Gene Name||claudin 23|
|Is this an essential gene?||Probably non essential (E-score: 0.104)|
|Stock #||R5167 (G1)|
|Chromosomal Location||35824712-35826559 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 35826320 bp|
|Amino Acid Change||Valine to Methionine at position 5 (V5M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049725 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060128]|
|Predicted Effect||possibly damaging
AA Change: V5M
PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V5M
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2170|
|Coding Region Coverage||
|Validation Efficiency||97% (38/39)|
|MGI Phenotype||FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and the protein encoded by this gene is 77% identical to the human homolog. [provided by RefSeq, Aug 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn23||
(F):5'- TAGTGGCCAGTGACGTGATC -3'
(R):5'- ACTTGGTGTGAGAGGCTCAG -3'
(F):5'- AGTGACGTGATCATGAGTCCC -3'
(R):5'- AGGCTCAGTGGGGACAGTTC -3'