|Institutional Source||Beutler Lab|
|Gene Name||claudin 5|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1584 (G1)|
|Chromosomal Location||18776847-18778262 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 18777477 bp (GRCm38)|
|Amino Acid Change||Glycine to Aspartic acid at position 161 (G161D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041925 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000043577] [ENSMUST00000096990]|
AA Change: G161D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G161D
|Meta Mutation Damage Score||0.9751|
|Coding Region Coverage||
|Validation Efficiency||99% (106/107)|
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 a critical component of endothelial tight junctions that control pericellular permeability. The knockout mice lacking this gene died within 10 h of birth and the blood-brain barrier in these mice against small molecules was selectively affected. This gene is expressed strongly in endothelium of normal lung and plays a regulation role during acrolein-induced acute lung injury. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous mutation of this gene results in size-selective loosening of the blood-brain barrier. Homozygous mutant neonates gradually cease movement and die within 10 hours after birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn5||
(F):5'- AGTTAAGGCACGGGTAGCACTCAC -3'
(R):5'- GCCACTGGACATTAAGGCAGCATC -3'
(F):5'- GGTAGCACTCACGGGAGG -3'
(R):5'- TTCACCGATGAAATCTGAGCG -3'