Incidental Mutation 'P0025:Emp2'
ID7669
Institutional Source Beutler Lab
Gene Symbol Emp2
Ensembl Gene ENSMUSG00000022505
Gene Nameepithelial membrane protein 2
SynonymsXmp
MMRRC Submission 038278-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #P0025 (G1)
Quality Score
Status Validated
Chromosome16
Chromosomal Location10281749-10313968 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 10285605 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078357]
Predicted Effect probably benign
Transcript: ENSMUST00000078357
SMART Domains Protein: ENSMUSP00000077466
Gene: ENSMUSG00000022505

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 165 1.4e-60 PFAM
Pfam:Claudin_2 13 167 5.9e-10 PFAM
Coding Region Coverage
  • 1x: 71.1%
  • 3x: 60.8%
  • 10x: 33.8%
  • 20x: 15.1%
Validation Efficiency 90% (95/106)
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
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnah6 A T 6: 73,163,504 D896E probably benign Het
Nefm G T 14: 68,120,965 probably benign Homo
Slit2 T C 5: 48,304,035 Y1458H probably damaging Het
Zfhx4 A T 3: 5,399,588 H1627L probably benign Het
Other mutations in Emp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Emp2 APN 16 10284511 missense probably damaging 1.00
IGL03085:Emp2 APN 16 10288046 splice site probably benign
IGL03354:Emp2 APN 16 10285565 missense probably damaging 0.99
R0724:Emp2 UTSW 16 10284615 missense probably benign 0.40
R2391:Emp2 UTSW 16 10284588 missense probably damaging 0.96
R5759:Emp2 UTSW 16 10284510 missense probably damaging 1.00
R6151:Emp2 UTSW 16 10292281 missense probably damaging 1.00
R7916:Emp2 UTSW 16 10284573 missense possibly damaging 0.58
Posted On2012-10-29