Incidental Mutation 'R5759:Emp2'
ID 445211
Institutional Source Beutler Lab
Gene Symbol Emp2
Ensembl Gene ENSMUSG00000022505
Gene Name epithelial membrane protein 2
Synonyms Xmp
MMRRC Submission 043361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5759 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 10099613-10131832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10102374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 146 (Y146F)
Ref Sequence ENSEMBL: ENSMUSP00000077466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078357]
AlphaFold O88662
Predicted Effect probably damaging
Transcript: ENSMUST00000078357
AA Change: Y146F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077466
Gene: ENSMUSG00000022505
AA Change: Y146F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 165 1.4e-60 PFAM
Pfam:Claudin_2 13 167 5.9e-10 PFAM
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 95.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,419 (GRCm39) S1203P probably benign Het
Adamts1 A G 16: 85,594,936 (GRCm39) V341A possibly damaging Het
Arf2 G A 11: 103,874,459 (GRCm39) G144S probably benign Het
Atr A G 9: 95,756,455 (GRCm39) N862D probably benign Het
Cep295nl T C 11: 118,224,472 (GRCm39) H124R possibly damaging Het
Chd6 C T 2: 160,825,682 (GRCm39) V1141I possibly damaging Het
Chst5 C A 8: 112,616,842 (GRCm39) K259N probably benign Het
Dchs1 T A 7: 105,413,383 (GRCm39) D1144V probably damaging Het
Dmxl2 T C 9: 54,282,792 (GRCm39) Y2795C probably damaging Het
Dnah7b A G 1: 46,316,280 (GRCm39) N3131S probably damaging Het
Dnah7c G A 1: 46,654,527 (GRCm39) G1436R probably damaging Het
Exoc6 C T 19: 37,562,189 (GRCm39) Q148* probably null Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fam186b T G 15: 99,177,598 (GRCm39) Y576S probably benign Het
Fras1 T C 5: 96,857,775 (GRCm39) V2023A probably benign Het
Grm5 A C 7: 87,675,808 (GRCm39) M441L probably damaging Het
Hhatl A G 9: 121,617,343 (GRCm39) Y297H probably damaging Het
Ifi30 A G 8: 71,219,188 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,040 (GRCm39) N169K possibly damaging Het
Kat6a T G 8: 23,428,028 (GRCm39) S1128A probably benign Het
Madd T C 2: 90,992,420 (GRCm39) E1041G possibly damaging Het
Mcm3 CT CTT 1: 20,878,972 (GRCm39) probably null Het
Mfsd5 G A 15: 102,189,513 (GRCm39) G295D possibly damaging Het
Minar1 A T 9: 89,483,125 (GRCm39) N757K probably benign Het
Mmp20 T A 9: 7,628,378 (GRCm39) probably null Het
Mybphl T C 3: 108,282,070 (GRCm39) V100A probably benign Het
Ndfip2 T A 14: 105,539,750 (GRCm39) probably null Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or7e175 T A 9: 20,049,228 (GRCm39) V272E probably benign Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Phf19 T G 2: 34,787,135 (GRCm39) D443A probably damaging Het
Piezo1 A G 8: 123,234,394 (GRCm39) V84A probably damaging Het
Septin9 A G 11: 117,243,094 (GRCm39) I94V probably benign Het
Slc35a1 C A 4: 34,675,032 (GRCm39) V132L probably benign Het
Sntg1 G A 1: 8,484,494 (GRCm39) S442L probably benign Het
Tcf25 A G 8: 124,108,196 (GRCm39) T84A probably benign Het
Tchhl1 C G 3: 93,378,863 (GRCm39) S522R probably damaging Het
Tmem106b A G 6: 13,075,041 (GRCm39) E76G probably damaging Het
Tnk2 C T 16: 32,499,482 (GRCm39) P932S probably benign Het
Trib1 G A 15: 59,526,350 (GRCm39) V307I probably benign Het
Trib3 A T 2: 152,185,215 (GRCm39) D11E probably benign Het
Trim34b T C 7: 103,980,640 (GRCm39) S243P possibly damaging Het
Vmn2r50 A G 7: 9,781,905 (GRCm39) I280T probably damaging Het
Zfp1010 A T 2: 176,956,765 (GRCm39) C244* probably null Het
Zfp445 G T 9: 122,682,211 (GRCm39) Q577K probably benign Het
Zfp599 T C 9: 22,160,957 (GRCm39) K403E probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGGTTTGTGATCCCAAGAATGC -3'
(R):5'- GCCAGGTCCAGATTCTAGTG -3'

Sequencing Primer
(F):5'- GAATGCAGAAACTCCTTCTCTG -3'
(R):5'- GTGGCCTGCAATATTTCTGAAC -3'
Posted On 2016-11-21