|Institutional Source||Beutler Lab|
|Gene Name||epithelial membrane protein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.083)|
|Stock #||R0724 (G1)|
|Chromosomal Location||10281749-10313968 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 10284615 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 111 (C111Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077466 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078357]|
|Predicted Effect||probably benign
AA Change: C111Y
PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
AA Change: C111Y
|Meta Mutation Damage Score||0.2515|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Emp2||
(F):5'- TGTACATGAGGCCGCTGATGAAAG -3'
(R):5'- GTGTCTGCAAAGCTTGAAGCCTG -3'
(F):5'- CCGCTGATGAAAGTGAAGGC -3'
(R):5'- TTTGGCAGGCAAAAGTGC -3'