Incidental Mutation 'R4593:Emp3'
ID 344213
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 041809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R4593 (G1)
Quality Score 145
Status Validated
Chromosome 7
Chromosomal Location 45567447-45570828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45568777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 27 (L27P)
Ref Sequence ENSEMBL: ENSMUSP00000148129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038876] [ENSMUST00000069772] [ENSMUST00000164119] [ENSMUST00000209350] [ENSMUST00000210297] [ENSMUST00000210939] [ENSMUST00000210039] [ENSMUST00000211367] [ENSMUST00000210602]
AlphaFold O35912
Predicted Effect probably damaging
Transcript: ENSMUST00000038876
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037289
Gene: ENSMUSG00000040212
AA Change: L96P

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: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132519
Gene: ENSMUSG00000040212
AA Change: L96P

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 noncoding transcript
Transcript: ENSMUST00000210038
Predicted Effect probably damaging
Transcript: ENSMUST00000210297
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210939
AA Change: L27P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210039
Predicted Effect probably benign
Transcript: ENSMUST00000211367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210937
Predicted Effect probably benign
Transcript: ENSMUST00000210602
Meta Mutation Damage Score 0.5999 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (45/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Atm G T 9: 53,364,894 (GRCm39) A8E possibly damaging Het
Atxn3 A T 12: 101,889,436 (GRCm39) M333K probably benign Het
Cd86 A G 16: 36,426,918 (GRCm39) *310R probably null Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dgat1 C A 15: 76,388,889 (GRCm39) R111S probably damaging Het
Dner T C 1: 84,673,449 (GRCm39) M1V probably null Het
Dnhd1 G A 7: 105,364,653 (GRCm39) D4240N probably benign Het
Glra3 G T 8: 56,393,916 (GRCm39) G9V probably damaging Het
Gpr149 A T 3: 62,510,151 (GRCm39) probably benign Het
Ighv1-9 T C 12: 114,547,224 (GRCm39) T105A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Ldhd T C 8: 112,355,996 (GRCm39) D129G probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrrc37a A G 11: 103,389,795 (GRCm39) Y1877H possibly damaging Het
Med13l T C 5: 118,880,625 (GRCm39) L1239P probably damaging Het
Mib1 T C 18: 10,768,191 (GRCm39) L480S possibly damaging Het
Mkrn3 C T 7: 62,068,552 (GRCm39) W413* probably null Het
Myo7b A G 18: 32,146,428 (GRCm39) V119A possibly damaging Het
Nexn T A 3: 151,958,553 (GRCm39) R113S probably damaging Het
Npas3 A T 12: 54,115,280 (GRCm39) Q703L probably benign Het
Npr2 A G 4: 43,647,323 (GRCm39) probably benign Het
Nub1 A G 5: 24,914,119 (GRCm39) Y624C probably damaging Het
Obscn A C 11: 59,024,075 (GRCm39) S532A probably damaging Het
Or1e33 T A 11: 73,738,140 (GRCm39) K270N probably benign Het
Or9g20 A G 2: 85,630,008 (GRCm39) L202P probably damaging Het
Panx2 T C 15: 88,952,118 (GRCm39) I195T probably damaging Het
Parp11 T C 6: 127,451,262 (GRCm39) I104T probably benign Het
Pkd1l1 G T 11: 8,851,253 (GRCm39) D726E probably damaging Het
Pom121l2 C T 13: 22,168,623 (GRCm39) R965W probably damaging Het
Prrc2c T C 1: 162,525,101 (GRCm39) K502E probably damaging Het
Rasa1 T C 13: 85,386,340 (GRCm39) probably null Het
Sva T C 6: 42,019,592 (GRCm39) S151P possibly damaging Het
Svep1 T C 4: 58,091,944 (GRCm39) N1564D possibly damaging Het
Unk T C 11: 115,939,882 (GRCm39) I129T probably benign Het
Urb1 T C 16: 90,584,332 (GRCm39) D550G probably damaging Het
Vmn1r194 T A 13: 22,428,461 (GRCm39) M26K possibly damaging Het
Vmn1r59 A T 7: 5,457,686 (GRCm39) F25I possibly damaging Het
Vmn1r88 A G 7: 12,911,769 (GRCm39) K42E probably damaging Het
Zbtb24 A G 10: 41,327,953 (GRCm39) R280G possibly damaging Het
Other mutations in Emp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5207:Emp3 UTSW 7 45,569,373 (GRCm39) missense probably benign 0.01
R8407:Emp3 UTSW 7 45,569,445 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGACTTCTCAAGCACTGGC -3'
(R):5'- ATCTCTGAAGCTTGCCTGG -3'

Sequencing Primer
(F):5'- CTCACCGCAGAGCCTCTAAGG -3'
(R):5'- TTGCCTGGCTGAACCTACAGTG -3'
Posted On 2015-09-25