Incidental Mutation 'R8407:Emp3'
ID 652468
Institutional Source Beutler Lab
Gene Symbol Emp3
Ensembl Gene ENSMUSG00000040212
Gene Name epithelial membrane protein 3
Synonyms HNMP-1, MI-35, H-4, H4, Ymp
MMRRC Submission 067814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R8407 (G1)
Quality Score 128.008
Status Not validated
Chromosome 7
Chromosomal Location 45567447-45570828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45569445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 32 (P32L)
Ref Sequence ENSEMBL: ENSMUSP00000037289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038876] [ENSMUST00000069772] [ENSMUST00000164119] [ENSMUST00000209350] [ENSMUST00000210039] [ENSMUST00000210297] [ENSMUST00000210602] [ENSMUST00000210939] [ENSMUST00000211367]
AlphaFold O35912
Predicted Effect probably damaging
Transcript: ENSMUST00000038876
AA Change: P32L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037289
Gene: ENSMUSG00000040212
AA Change: P32L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 156 7.2e-47 PFAM
Pfam:Claudin_2 13 158 8.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069772
SMART Domains Protein: ENSMUSP00000070405
Gene: ENSMUSG00000002781

DomainStartEndE-ValueType
Pfam:DUF3754 182 349 3.6e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164119
AA Change: P32L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132519
Gene: ENSMUSG00000040212
AA Change: P32L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 156 7.2e-47 PFAM
Pfam:Claudin_2 13 158 8.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209292
Predicted Effect probably benign
Transcript: ENSMUST00000209350
Predicted Effect probably benign
Transcript: ENSMUST00000210039
Predicted Effect probably damaging
Transcript: ENSMUST00000210297
AA Change: P32L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000210602
Predicted Effect probably benign
Transcript: ENSMUST00000210939
Predicted Effect probably benign
Transcript: ENSMUST00000211367
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly T C 11: 100,384,897 (GRCm39) I629V possibly damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Arhgef12 C T 9: 42,937,475 (GRCm39) probably null Het
BC048562 T A 9: 108,315,631 (GRCm39) S12R possibly damaging Het
Calhm2 G A 19: 47,098,755 (GRCm39) Q310* probably null Het
Celsr3 A G 9: 108,706,256 (GRCm39) E913G probably damaging Het
Cep68 T C 11: 20,190,446 (GRCm39) S189G possibly damaging Het
Cilp C A 9: 65,181,898 (GRCm39) P336T probably damaging Het
Cnot4 A G 6: 35,033,154 (GRCm39) S288P probably benign Het
Cst13 T C 2: 148,665,124 (GRCm39) S40P probably damaging Het
Cyp4f37 A T 17: 32,853,158 (GRCm39) D374V probably damaging Het
Ddit3 A G 10: 127,131,318 (GRCm39) T37A probably benign Het
Dnah2 T C 11: 69,350,104 (GRCm39) N2343S probably benign Het
Esyt1 G T 10: 128,347,796 (GRCm39) L965M probably damaging Het
Fbxw28 T A 9: 109,155,269 (GRCm39) I406L probably benign Het
Fgf10 A G 13: 118,851,938 (GRCm39) T7A possibly damaging Het
Frs3 A T 17: 48,009,552 (GRCm39) D11V probably damaging Het
Glmn A G 5: 107,718,057 (GRCm39) S287P probably benign Het
Glyctk C T 9: 106,033,141 (GRCm39) A291T probably benign Het
H2bc12 G T 13: 22,220,217 (GRCm39) G54V probably damaging Het
Ibtk A T 9: 85,603,119 (GRCm39) F629I possibly damaging Het
Kcnh8 C A 17: 53,212,101 (GRCm39) A633E probably damaging Het
Kif24 T C 4: 41,394,488 (GRCm39) N929S probably benign Het
Ldlrap1 T C 4: 134,484,736 (GRCm39) K86R probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lmod1 A G 1: 135,291,763 (GRCm39) K206R probably benign Het
Lmod1 C A 1: 135,292,734 (GRCm39) P530T possibly damaging Het
Lnp1 A T 16: 56,748,251 (GRCm39) S14T probably benign Het
Map3k6 T A 4: 132,974,904 (GRCm39) Y646N possibly damaging Het
Mapk14 G A 17: 28,963,983 (GRCm39) V290I probably benign Het
Mrpl22 C A 11: 58,066,156 (GRCm39) Y83* probably null Het
Myh6 T C 14: 55,201,388 (GRCm39) N104D probably benign Het
Nalcn T A 14: 123,554,683 (GRCm39) M903L probably damaging Het
Nfat5 C T 8: 108,094,047 (GRCm39) Q763* probably null Het
Or5w19 A C 2: 87,698,437 (GRCm39) Y34S probably damaging Het
Plin1 T C 7: 79,373,051 (GRCm39) D306G probably benign Het
Ppp1r12a T A 10: 108,076,042 (GRCm39) probably null Het
Prelid1 T A 13: 55,470,672 (GRCm39) H33Q probably damaging Het
Prkcz C T 4: 155,352,673 (GRCm39) A485T probably damaging Het
Ptch1 T C 13: 63,662,057 (GRCm39) E1169G probably null Het
Rps19 C A 7: 24,588,517 (GRCm39) T181K unknown Het
Skic2 G A 17: 35,060,103 (GRCm39) A889V probably benign Het
Slc22a3 A C 17: 12,640,368 (GRCm39) C538G probably benign Het
Slc2a10 T A 2: 165,356,787 (GRCm39) F149Y possibly damaging Het
Smarcal1 A G 1: 72,640,554 (GRCm39) I516M probably benign Het
Smarcc2 T A 10: 128,318,190 (GRCm39) W601R probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srp68 A G 11: 116,143,589 (GRCm39) S369P probably benign Het
Tex2 C T 11: 106,459,221 (GRCm39) E70K probably damaging Het
Ticam2 A G 18: 46,693,590 (GRCm39) S166P probably damaging Het
Trpv5 A G 6: 41,652,272 (GRCm39) S138P probably benign Het
Ttll8 C T 15: 88,798,741 (GRCm39) V665I probably benign Het
Vmn2r81 T C 10: 79,104,028 (GRCm39) L217P possibly damaging Het
Zbtb4 T C 11: 69,669,101 (GRCm39) V608A probably benign Het
Zfp957 A G 14: 79,451,352 (GRCm39) V149A possibly damaging Het
Other mutations in Emp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4593:Emp3 UTSW 7 45,568,777 (GRCm39) missense probably damaging 1.00
R5207:Emp3 UTSW 7 45,569,373 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCAGACAAGCTGCCTATGG -3'
(R):5'- ACAAGGTAAGTTTCCAGCTCAC -3'

Sequencing Primer
(F):5'- GCTCACCATTCTCACTGA -3'
(R):5'- GATATAGCCCATCTCTAAGACCC -3'
Posted On 2020-10-20