|Institutional Source||Beutler Lab|
|Gene Name||claudin 20|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7727 (G1)|
|Chromosomal Location||3532554-3533213 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 3532755 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 68 (Y68H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126169 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000168560] [ENSMUST00000227405]|
|AlphaFold||no structure available at present|
AA Change: Y68H
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: Y68H
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
|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. The protein encoded by this gene is identified in retinal pigment epithelium (RPE) and analysis of the RPE transcriptome reveals that this gene expression appears late during development of chick embryo. [provided by RefSeq, Aug 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn20||
(F):5'- AGAGTAACATCATGGCCTCGG -3'
(R):5'- ATCCCTGCAGTGATGAAGC -3'
(F):5'- GCAGGTCTCCAGCTCCTTG -3'
(R):5'- TGCAGTGATGAAGCAGACTCCTC -3'