|Institutional Source||Beutler Lab|
|Gene Name||claudin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.219)|
|Stock #||R6235 (G1)|
|Chromosomal Location||134986214-134987472 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 134986719 bp|
|Amino Acid Change||Phenylalanine to Serine at position 92 (F92S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091799 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094245]|
|Predicted Effect||possibly damaging
AA Change: F92S
PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: F92S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3260|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
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 low-affinity receptor for clostridium perfringens enterotoxin (CPE) produced by the bacterium Clostridium perfringens, and the interaction with CPE results in increased membrane permeability by forming small pores in plasma membrane. This protein is highly overexpressed in uterine carcinosarcoma. This protein is also predominantly present in brain endothelial cells, where it plays a specific role in the establishment and maintenance of blood brain barrier tight junction morphology. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a null allele are fertile with mutant males exhibiting normal spermatogenesis and fully functional Sertoli cell tight junctions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn3||
(F):5'- TCAAGTCCAGCAGCCATGTC -3'
(R):5'- ACGGGTTATAGAAATCCCTGATG -3'
(F):5'- ATGTCCATGGGCCTGGAGATC -3'
(R):5'- ATAGAAATCCCTGATGATGGTGTTG -3'