|Institutional Source||Beutler Lab|
|Gene Name||kazrin, periplakin interacting protein|
|Essential gene?||Probably non essential (E-score: 0.217)|
|Stock #||R5054 (G1)|
|Chromosomal Location||142102390-142239401 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 142108646 bp (GRCm38)|
|Amino Acid Change||Asparagine to Aspartic acid at position 573 (N573D)|
|Gene Model||predicted gene model for transcript(s):|
AA Change: N573D
AA Change: N573D
|Meta Mutation Damage Score||0.1773|
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable, fertile and grossly normal with no obvious defects in skin development or homeostasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kazn||
(F):5'- AGTGCATATCATCTCTAGCTCAAGC -3'
(R):5'- GTGTCAGTGACATAAGACCCC -3'
(F):5'- GCTCAAGCGACACCTCAC -3'
(R):5'- GTGTCAGTGACATAAGACCCCCTATG -3'