Incidental Mutation 'R2391:Emp2'
ID 247777
Institutional Source Beutler Lab
Gene Symbol Emp2
Ensembl Gene ENSMUSG00000022505
Gene Name epithelial membrane protein 2
Synonyms Xmp
MMRRC Submission 040359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R2391 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10099613-10131832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10102452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 120 (I120N)
Ref Sequence ENSEMBL: ENSMUSP00000077466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078357]
AlphaFold O88662
Predicted Effect probably damaging
Transcript: ENSMUST00000078357
AA Change: I120N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077466
Gene: ENSMUSG00000022505
AA Change: I120N

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 165 1.4e-60 PFAM
Pfam:Claudin_2 13 167 5.9e-10 PFAM
Meta Mutation Damage Score 0.9507 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (36/36)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T A 7: 115,703,461 (GRCm39) D24E probably damaging Het
Abca4 A G 3: 121,952,071 (GRCm39) H689R probably benign Het
Acss3 T G 10: 106,959,348 (GRCm39) T33P probably benign Het
BC005537 T A 13: 24,993,898 (GRCm39) Y124* probably null Het
Capn2 T C 1: 182,306,174 (GRCm39) D524G probably benign Het
Catsperb A G 12: 101,590,965 (GRCm39) Y1011C probably damaging Het
Cdk18 G T 1: 132,043,212 (GRCm39) Q438K probably benign Het
Cimap1d A T 10: 79,481,484 (GRCm39) V15E probably benign Het
Ckap5 A G 2: 91,416,214 (GRCm39) M1047V possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T A 7: 130,708,198 (GRCm39) I1306N probably damaging Het
Gm2888 A T 14: 3,037,656 (GRCm38) D216V possibly damaging Het
Naa16 T A 14: 79,607,489 (GRCm39) H287L probably benign Het
Olfm5 A G 7: 103,810,041 (GRCm39) S107P probably benign Het
Or10q3 G T 19: 11,848,180 (GRCm39) Y133* probably null Het
Or51e2 C A 7: 102,391,581 (GRCm39) V210F possibly damaging Het
Or6k8-ps1 T C 1: 173,979,664 (GRCm39) V194A probably benign Het
Ptpn2 A T 18: 67,808,959 (GRCm39) probably null Het
Serpinb8 A G 1: 107,534,799 (GRCm39) D290G probably damaging Het
Sfmbt2 T C 2: 10,450,504 (GRCm39) Y260H possibly damaging Het
Slc6a20a A T 9: 123,493,686 (GRCm39) V65E probably damaging Het
Spon1 C T 7: 113,486,080 (GRCm39) T210M probably damaging Het
Sugp1 T C 8: 70,512,061 (GRCm39) probably null Het
Tas2r143 C A 6: 42,377,810 (GRCm39) H213Q probably damaging Het
Terf1 C A 1: 15,875,963 (GRCm39) S21* probably null Het
Trim12a T C 7: 103,956,138 (GRCm39) E134G probably damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,751 (GRCm39) Y45C probably benign Het
Usp29 T A 7: 6,966,770 (GRCm39) probably null Het
Wdfy4 A T 14: 32,884,764 (GRCm39) M46K possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Znhit6 T C 3: 145,300,413 (GRCm39) S230P 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
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
Predicted Primers PCR Primer
(F):5'- ATGTGACCATGGATGCCAC -3'
(R):5'- CAGTTTGGCAGGCAAAAGTG -3'

Sequencing Primer
(F):5'- ACCATGGATGCCACCCTGTG -3'
(R):5'- CTGTGAGGGCCGGAATG -3'
Posted On 2014-11-11