Incidental Mutation 'IGL03085:Emp2'
ID 418085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emp2
Ensembl Gene ENSMUSG00000022505
Gene Name epithelial membrane protein 2
Synonyms Xmp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL03085
Quality Score
Status
Chromosome 16
Chromosomal Location 10099613-10131832 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 10105910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078357]
AlphaFold O88662
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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 64,208,881 (GRCm39) H230Q probably benign Het
Aagab T A 9: 63,546,316 (GRCm39) probably benign Het
Actl11 G T 9: 107,806,749 (GRCm39) K357N probably damaging Het
Aktip A G 8: 91,852,651 (GRCm39) probably null Het
Amtn A G 5: 88,529,501 (GRCm39) probably benign Het
Arhgap21 T A 2: 20,919,532 (GRCm39) M58L probably benign Het
Art2b T A 7: 101,229,785 (GRCm39) Y38F probably damaging Het
Asb10 T C 5: 24,744,601 (GRCm39) probably benign Het
Atm A T 9: 53,395,471 (GRCm39) D1699E possibly damaging Het
Azi2 A C 9: 117,888,214 (GRCm39) K259T probably damaging Het
Bcas3 A G 11: 85,367,609 (GRCm39) D77G probably damaging Het
Birc6 G A 17: 74,903,945 (GRCm39) R1246H probably damaging Het
Cdh13 C A 8: 120,015,463 (GRCm39) D559E probably damaging Het
Chrm3 C T 13: 9,927,570 (GRCm39) A489T probably damaging Het
Ckap2l A T 2: 129,126,967 (GRCm39) Y404N probably benign Het
Col18a1 A G 10: 76,895,015 (GRCm39) probably benign Het
Col4a1 T A 8: 11,272,198 (GRCm39) K731* probably null Het
Corin A T 5: 72,511,273 (GRCm39) C360S probably damaging Het
Cyp1a1 A C 9: 57,608,995 (GRCm39) H292P possibly damaging Het
Dennd5b A G 6: 148,928,893 (GRCm39) V760A probably damaging Het
Dhx57 T C 17: 80,565,526 (GRCm39) D842G possibly damaging Het
Eral1 G A 11: 77,969,093 (GRCm39) R136C probably damaging Het
Fat2 T A 11: 55,174,072 (GRCm39) M2214L probably benign Het
Flnb G A 14: 7,882,211 (GRCm38) R304H probably benign Het
G6pd2 A T 5: 61,967,645 (GRCm39) E473D probably benign Het
Gpx8 A G 13: 113,179,795 (GRCm39) Y169H probably damaging Het
Ighv1-64 A G 12: 115,471,461 (GRCm39) S19P possibly damaging Het
Ikbkb G T 8: 23,172,802 (GRCm39) N139K probably benign Het
Inpp5b A T 4: 124,686,115 (GRCm39) T720S probably benign Het
Kmt2d C A 15: 98,737,821 (GRCm39) probably benign Het
Lrig2 G A 3: 104,374,575 (GRCm39) P169S probably damaging Het
Magi3 T A 3: 103,922,655 (GRCm39) K1354I possibly damaging Het
Mapk9 A T 11: 49,757,865 (GRCm39) D103V probably damaging Het
Mrpl46 A T 7: 78,431,333 (GRCm39) I75N probably damaging Het
Or3a1c T A 11: 74,046,511 (GRCm39) I177N probably damaging Het
Or8b41 A G 9: 38,054,479 (GRCm39) E16G probably damaging Het
Or8d2b G A 9: 38,788,959 (GRCm39) M162I probably benign Het
Otog G T 7: 45,955,346 (GRCm39) probably null Het
Pex11a A G 7: 79,387,523 (GRCm39) L103P probably damaging Het
Pnpla8 A G 12: 44,358,305 (GRCm39) T687A probably benign Het
Ppm1d A G 11: 85,227,989 (GRCm39) I302V probably null Het
Prdm11 C A 2: 92,805,304 (GRCm39) V549F possibly damaging Het
Prss54 G A 8: 96,292,258 (GRCm39) P107L probably benign Het
Rasa3 T A 8: 13,635,690 (GRCm39) N422I probably benign Het
Rbm27 T C 18: 42,460,589 (GRCm39) probably benign Het
Rpl13-ps3 A T 14: 59,131,156 (GRCm39) noncoding transcript Het
Rps6ka2 G A 17: 7,562,679 (GRCm39) probably null Het
Sphkap T A 1: 83,258,075 (GRCm39) I223F possibly damaging Het
Srm T C 4: 148,677,838 (GRCm39) F159L probably damaging Het
Stt3a A G 9: 36,644,266 (GRCm39) probably benign Het
Tacr3 T C 3: 134,638,027 (GRCm39) S395P possibly damaging Het
Tecpr2 A G 12: 110,921,260 (GRCm39) probably benign Het
Tmub1 C T 5: 24,651,096 (GRCm39) G188S probably damaging Het
Trim66 T A 7: 109,057,952 (GRCm39) I877F probably benign Het
Ubr5 T C 15: 38,029,812 (GRCm39) E471G probably damaging Het
Vmn1r218 A T 13: 23,321,481 (GRCm39) Y196F possibly damaging Het
Vmn2r89 T A 14: 51,689,615 (GRCm39) D39E probably damaging Het
Wee1 C A 7: 109,723,805 (GRCm39) P240Q probably damaging Het
Zc3h12a A T 4: 125,020,813 (GRCm39) V10D probably benign Het
Zzef1 T C 11: 72,746,350 (GRCm39) probably benign Het
Other mutations in Emp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Emp2 APN 16 10,102,375 (GRCm39) missense probably damaging 1.00
IGL03354:Emp2 APN 16 10,103,429 (GRCm39) missense probably damaging 0.99
P0025:Emp2 UTSW 16 10,103,469 (GRCm39) splice site probably benign
R0724:Emp2 UTSW 16 10,102,479 (GRCm39) missense probably benign 0.40
R2391:Emp2 UTSW 16 10,102,452 (GRCm39) missense probably damaging 0.96
R5759:Emp2 UTSW 16 10,102,374 (GRCm39) missense probably damaging 1.00
R6151:Emp2 UTSW 16 10,110,145 (GRCm39) missense probably damaging 1.00
R7916:Emp2 UTSW 16 10,102,437 (GRCm39) missense possibly damaging 0.58
R9619:Emp2 UTSW 16 10,102,420 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02