|Institutional Source||Beutler Lab|
|Gene Name||claudin 9|
|Is this an essential gene?||Probably non essential (E-score: 0.142)|
|Stock #||R4195 (G1)|
|Chromosomal Location||23682584-23684018 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 23683174 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 159 (E159G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093236 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024699] [ENSMUST00000085989]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: E159G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E159G
|Meta Mutation Damage Score||0.8900|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: This intronless 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 developmentally regulated; it is expressed in neonate kidney, but disappers by adulthood. It is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit severe and early hearing loss associated with degeneration of outer hair cells and increased perilymph potassium ion concentration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn9||
(F):5'- TTCTGGAAGAAGCCTCAGCC -3'
(R):5'- GTATACGACTCACTGCTGGC -3'
(F):5'- GCCTCAGCCTCACACATAGTC -3'
(R):5'- AGAGCCCTCTGTGTCGTG -3'