Incidental Mutation 'IGL02333:Emp2'
ID288780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emp2
Ensembl Gene ENSMUSG00000022505
Gene Nameepithelial membrane protein 2
SynonymsXmp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL02333
Quality Score
Status
Chromosome16
Chromosomal Location10281749-10313968 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10284511 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 146 (Y146H)
Ref Sequence ENSEMBL: ENSMUSP00000077466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078357]
Predicted Effect probably damaging
Transcript: ENSMUST00000078357
AA Change: Y146H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077466
Gene: ENSMUSG00000022505
AA Change: Y146H

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 165 1.4e-60 PFAM
Pfam:Claudin_2 13 167 5.9e-10 PFAM
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,971,447 V276I probably benign Het
Acss2 T A 2: 155,555,884 W289R probably damaging Het
Alpk2 A G 18: 65,349,480 S19P probably damaging Het
Ano3 T C 2: 110,697,199 probably benign Het
Atxn1 G A 13: 45,567,204 S405F probably damaging Het
Atxn2 A G 5: 121,781,387 Y386C probably damaging Het
Bach2 T A 4: 32,575,334 L643* probably null Het
Ccl22 T A 8: 94,749,879 L91Q probably damaging Het
Cdc40 A G 10: 40,867,859 Y81H probably benign Het
Col5a3 C A 9: 20,799,306 R549M unknown Het
Eif3e A T 15: 43,266,137 N198K probably benign Het
Impg1 G A 9: 80,440,755 L66F possibly damaging Het
Itsn1 A G 16: 91,820,676 probably benign Het
Khdrbs3 T C 15: 69,049,394 Y187H probably damaging Het
Klhdc7a T A 4: 139,967,156 H160L probably benign Het
Klhl2 G A 8: 64,759,750 R252W probably damaging Het
Krba1 C T 6: 48,413,087 T595I probably damaging Het
Myo9b G T 8: 71,358,993 D1887Y possibly damaging Het
Olfm4 C T 14: 80,021,770 T453I probably damaging Het
Sin3a A G 9: 57,107,559 N688S possibly damaging Het
Slc47a1 A G 11: 61,370,124 V150A probably damaging Het
Sptbn4 A G 7: 27,364,299 L2234P probably damaging Het
Trpm4 C T 7: 45,322,115 V166M possibly damaging Het
Usp54 A T 14: 20,589,395 F156L probably damaging Het
Vmn2r32 A T 7: 7,464,144 F795Y probably damaging Het
Other mutations in Emp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Emp2 APN 16 10288046 splice site probably benign
IGL03354:Emp2 APN 16 10285565 missense probably damaging 0.99
P0025:Emp2 UTSW 16 10285605 splice site probably benign
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 On2015-04-16