Incidental Mutation 'IGL03354:Emp2'
ID 419876
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 # IGL03354
Quality Score
Status
Chromosome 16
Chromosomal Location 10099613-10131832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10103429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 74 (I74T)
Ref Sequence ENSEMBL: ENSMUSP00000077466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078357]
AlphaFold O88662
Predicted Effect probably damaging
Transcript: ENSMUST00000078357
AA Change: I74T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077466
Gene: ENSMUSG00000022505
AA Change: I74T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,041 (GRCm39) A309T possibly damaging Het
Abca15 C A 7: 119,993,711 (GRCm39) Y1310* probably null Het
Adad1 G T 3: 37,160,322 (GRCm39) C552F probably damaging Het
Adam22 A G 5: 8,208,890 (GRCm39) S180P possibly damaging Het
Anxa10 A T 8: 62,549,778 (GRCm39) D22E probably damaging Het
Astn1 T C 1: 158,516,174 (GRCm39) S1255P probably damaging Het
Bhlhe41 T C 6: 145,809,929 (GRCm39) T92A probably damaging Het
Bicc1 G A 10: 70,782,432 (GRCm39) P603S probably benign Het
Camk2d T C 3: 126,590,615 (GRCm39) probably null Het
Ccdc136 T A 6: 29,419,102 (GRCm39) I808N probably damaging Het
Cd200r3 C T 16: 44,773,960 (GRCm39) A124V possibly damaging Het
Cfap70 T C 14: 20,482,050 (GRCm39) E310G probably damaging Het
Cyp2d12 A T 15: 82,443,162 (GRCm39) D357V probably damaging Het
Dnah7b G A 1: 46,124,849 (GRCm39) V173I probably damaging Het
Dnajb4 T A 3: 151,892,115 (GRCm39) E239D probably benign Het
Dzip1 G A 14: 119,149,981 (GRCm39) probably benign Het
Ermn T G 2: 57,942,634 (GRCm39) E32A probably benign Het
F10 C A 8: 13,095,089 (GRCm39) T82N probably benign Het
Fam227a T C 15: 79,520,951 (GRCm39) D295G possibly damaging Het
Gm527 T A 12: 64,969,154 (GRCm39) F194I probably damaging Het
Gmcl1 G A 6: 86,703,140 (GRCm39) T98M probably damaging Het
Gucy2g T C 19: 55,221,512 (GRCm39) R330G possibly damaging Het
H1f4 C T 13: 23,806,060 (GRCm39) probably benign Het
Kif1a T C 1: 92,987,957 (GRCm39) H549R probably damaging Het
Klhl14 T A 18: 21,784,785 (GRCm39) D214V probably damaging Het
Lipo2 A G 19: 33,708,270 (GRCm39) F248S probably benign Het
Mctp2 C T 7: 71,810,992 (GRCm39) V661I probably benign Het
Myh15 A T 16: 48,992,373 (GRCm39) M1616L probably benign Het
Nlrp4b A T 7: 10,448,465 (GRCm39) I223F probably damaging Het
Or1j18 A T 2: 36,624,524 (GRCm39) S64C possibly damaging Het
Or1j18 G T 2: 36,624,525 (GRCm39) S64I possibly damaging Het
Or2ad1 T C 13: 21,326,654 (GRCm39) Y191C probably damaging Het
Or2ag2 A G 7: 106,485,307 (GRCm39) V239A probably benign Het
Or2b28 T C 13: 21,531,686 (GRCm39) V196A possibly damaging Het
Or4c3d A C 2: 89,881,911 (GRCm39) C252W probably damaging Het
Or5p80 T A 7: 108,229,735 (GRCm39) C179S possibly damaging Het
Or5w1b T C 2: 87,475,939 (GRCm39) N176S probably damaging Het
Pcsk4 T C 10: 80,161,893 (GRCm39) D116G probably damaging Het
Pibf1 A G 14: 99,388,174 (GRCm39) D440G probably benign Het
Plekho2 T C 9: 65,466,703 (GRCm39) E129G probably null Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rars1 A G 11: 35,715,302 (GRCm39) L248P probably damaging Het
Ruvbl1 C A 6: 88,456,197 (GRCm39) Y90* probably null Het
Schip1 A G 3: 68,402,298 (GRCm39) D125G possibly damaging Het
Skic3 T C 13: 76,330,941 (GRCm39) V1457A possibly damaging Het
Smarca2 T C 19: 26,597,303 (GRCm39) S62P probably benign Het
Sort1 T C 3: 108,256,022 (GRCm39) V656A probably benign Het
Tlr12 A G 4: 128,509,730 (GRCm39) L840P probably damaging Het
Trpm3 T A 19: 22,834,082 (GRCm39) I438N probably damaging Het
Wdr11 C A 7: 129,227,026 (GRCm39) F829L probably benign Het
Zdhhc11 A T 13: 74,127,264 (GRCm39) I214F possibly damaging Het
Other mutations in Emp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Emp2 APN 16 10,102,375 (GRCm39) missense probably damaging 1.00
IGL03085:Emp2 APN 16 10,105,910 (GRCm39) splice site probably benign
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