|Institutional Source||Beutler Lab|
|Gene Name||desmoglein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.233)|
|Stock #||R1543 (G1)|
|Chromosomal Location||20558074-20604521 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 20594211 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 605 (V605E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057096 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059787]|
|Predicted Effect||probably benign
AA Change: V605E
PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V605E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||95% (77/81)|
FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein die in utero. Mutant mice lacking a part of the extracellular adhesive domain of the encoded protein develop cardiac fibrosis and dilation. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dsg2||
(F):5'- ACCGTGAAAGCTGTGTCCAACC -3'
(R):5'- TGTGGCAAGTCCTTTCTGAAGACC -3'
(F):5'- GACACATTTTTGGTGAGCACAG -3'
(R):5'- TTCTGAAGACCTATTGACACCG -3'