|Institutional Source||Beutler Lab|
|Gene Name||FERM and PDZ domain containing 2|
|Synonyms||Gm626, Frmpd2, LOC380890, ENSMUSG00000071536, LOC268729|
Genbank: XM_001481294; MGI: 2685472
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8134 (G1)|
|Chromosomal Location||33471696-33575269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 33505495 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 277 (S277P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000146693 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000208577] [ENSMUST00000208853]|
AA Change: S277P
PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
|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'- TCTGAGGGTCTTAGCTTCACC -3'
(R):5'- TCTGTCAGCTCAGGTTTCTG -3'
(F):5'- TGAGGGTCTTAGCTTCACCAACAC -3'
(R):5'- AGGGTCCCTGTGTCCTGAAG -3'