|Institutional Source||Beutler Lab|
|Gene Name||piezo-type mechanosensitive ion channel component 2|
|Synonyms||Fam38b, Fam38b2, 9030411M15Rik, Piezo2, 9430028L06Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4961 (G1)|
|Chromosomal Location||63010213-63387183 bp(-) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||T to C at 63052961 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000040019 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047480]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||95% (62/65)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Piezo2||
(F):5'- GTTAAAATGCAAGCACACACGG -3'
(R):5'- ACTGTGCCATGCTTCTTCGG -3'
(F):5'- TGCAAGCACACACGGAATAGTC -3'
(R):5'- TCGGCCTAGATAATATCATCAAGAGG -3'