|Institutional Source||Beutler Lab|
|Gene Name||desmoglein 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.454)|
|Stock #||R6464 (G1)|
|Chromosomal Location||20510304-20541310 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 20533526 bp|
|Amino Acid Change||Arginine to Serine at position 597 (R597S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064718 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070892]|
|Predicted Effect||probably benign
AA Change: R597S
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: R597S
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
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 exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dsg3||
(F):5'- AGACCAAATGATGCCTAGTCTCAC -3'
(R):5'- TTGCTCGTCATCGGCTTAGAG -3'
(F):5'- ATGCCTAGTCTCACTGTGATTTG -3'
(R):5'- CTCGTCATCGGCTTAGAGAATGAC -3'