|Institutional Source||Beutler Lab|
|Gene Name||tight junction protein 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2068 (G1)|
|Chromosomal Location||24094523-24225026 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 24122323 bp|
|Amino Acid Change||Arginine to Leucine at position 400 (R400L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097154 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099558]|
|Predicted Effect||probably benign
AA Change: R400L
PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: R400L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tjp2||
(F):5'- CTCCTCTCTTGAGCTGAAACAC -3'
(R):5'- GGAAGTGTACAGTTCTGAATTTGAC -3'
(F):5'- CAGACCATGATCATGTCTCAGCAG -3'
(R):5'- GACTTTTCCCCATCCCTTAGTAAAAG -3'