|Institutional Source||Beutler Lab|
|Gene Name||FERM and PDZ domain containing 2|
|Synonyms||Gm626, Frmpd2, LOC380890, ENSMUSG00000071536, LOC268729|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7220 (G1)|
|Chromosomal Location||33471696-33575269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 33507475 bp|
|Amino Acid Change||Arginine to Serine at position 339 (R339S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000146693 (fasta)|
|Predicted Effect||probably damaging
AA Change: R339S
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Frmpd2||
(F):5'- ACCTCAGAGATCCCTCAGAG -3'
(R):5'- CACTAGTGTGACCAGGAACC -3'
(F):5'- GGTCAGGTCTGCTATAACCAACTG -3'
(R):5'- GGAACCACCTACCTTCCACATAAG -3'