Incidental Mutation 'R7780:Evpl'
ID 599182
Institutional Source Beutler Lab
Gene Symbol Evpl
Ensembl Gene ENSMUSG00000034282
Gene Name envoplakin
Synonyms 210kDa protein
MMRRC Submission 045836-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7780 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 116111385-116128903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116125000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 154 (R154H)
Ref Sequence ENSEMBL: ENSMUSP00000037850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037007]
AlphaFold Q9D952
Predicted Effect not run
Transcript: ENSMUST00000037007
AA Change: R154H
SMART Domains Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: R154H

DomainStartEndE-ValueType
low complexity region 3 30 N/A INTRINSIC
Blast:SPEC 44 140 1e-16 BLAST
Blast:SPEC 140 226 4e-46 BLAST
SPEC 229 330 2.21e-6 SMART
Blast:SPEC 336 500 7e-68 BLAST
low complexity region 508 525 N/A INTRINSIC
Blast:SPEC 527 632 4e-41 BLAST
Blast:SPEC 635 746 5e-48 BLAST
Blast:SPEC 753 867 7e-49 BLAST
low complexity region 868 881 N/A INTRINSIC
low complexity region 933 950 N/A INTRINSIC
internal_repeat_2 1011 1030 6.54e-6 PROSPERO
internal_repeat_3 1012 1032 1.94e-5 PROSPERO
coiled coil region 1035 1077 N/A INTRINSIC
low complexity region 1131 1144 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
PLEC 1186 1227 1.48e2 SMART
low complexity region 1228 1242 N/A INTRINSIC
coiled coil region 1262 1366 N/A INTRINSIC
low complexity region 1398 1414 N/A INTRINSIC
internal_repeat_2 1457 1476 6.54e-6 PROSPERO
internal_repeat_3 1516 1536 1.94e-5 PROSPERO
low complexity region 1595 1617 N/A INTRINSIC
PLEC 1679 1714 9.19e-4 SMART
PLEC 1729 1764 4.53e1 SMART
low complexity region 1788 1800 N/A INTRINSIC
PLEC 1819 1856 1.41e-4 SMART
PLEC 1857 1894 5.4e-10 SMART
PLEC 1895 1932 2.7e-10 SMART
PLEC 1933 1970 1.21e-3 SMART
PLEC 1971 2008 1.16e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(3)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,294,432 (GRCm39) R389K possibly damaging Het
Ahnak2 C T 12: 112,746,716 (GRCm39) V1205M Het
Ccr3 A G 9: 123,828,989 (GRCm39) Y108C probably benign Het
Cers5 T G 15: 99,637,589 (GRCm39) H220P probably damaging Het
Cfap61 A T 2: 145,995,692 (GRCm39) N1086Y possibly damaging Het
Cip2a T A 16: 48,822,023 (GRCm39) L217* probably null Het
Clstn3 T C 6: 124,439,161 (GRCm39) E32G probably damaging Het
Cox20 T C 1: 178,149,566 (GRCm39) C72R probably benign Het
Csf1 A T 3: 107,657,709 (GRCm39) N154K probably damaging Het
Cyp2j7 T A 4: 96,118,256 (GRCm39) K112N probably benign Het
Drosha A G 15: 12,848,172 (GRCm39) D488G probably benign Het
Edem1 A G 6: 108,818,589 (GRCm39) K199R probably benign Het
Esyt2 T C 12: 116,305,718 (GRCm39) I316T probably benign Het
Fbn1 A G 2: 125,143,678 (GRCm39) L2817P probably benign Het
Fbxo42 T A 4: 140,921,131 (GRCm39) probably null Het
Fbxo43 T C 15: 36,162,358 (GRCm39) D283G probably damaging Het
Fdxr A T 11: 115,167,656 (GRCm39) S20T probably benign Het
Fkbp10 T C 11: 100,312,048 (GRCm39) Y203H probably damaging Het
Galntl6 C T 8: 58,880,733 (GRCm39) probably null Het
Gask1b G A 3: 79,848,711 (GRCm39) G486S probably damaging Het
Gm26657 C A 4: 56,741,056 (GRCm39) Y80* probably null Het
Gm973 T A 1: 59,597,289 (GRCm39) W440R probably damaging Het
Helz T A 11: 107,528,689 (GRCm39) F903Y probably damaging Het
Iqcf4 T A 9: 106,445,860 (GRCm39) I96F possibly damaging Het
Kcnq5 T A 1: 22,031,555 (GRCm39) Q84L probably benign Het
Krit1 G A 5: 3,862,772 (GRCm39) G254S probably damaging Het
Krtap6-2 A T 16: 89,216,510 (GRCm39) Y152* probably null Het
Loricrin A T 3: 91,988,460 (GRCm39) Y275* probably null Het
Map4 T C 9: 109,863,720 (GRCm39) I315T probably benign Het
Mcpt1 T A 14: 56,256,609 (GRCm39) probably null Het
Mdh1b C A 1: 63,759,133 (GRCm39) S153I possibly damaging Het
Mfsd12 C A 10: 81,193,718 (GRCm39) A96E probably benign Het
Mki67 T C 7: 135,315,697 (GRCm39) E55G probably benign Het
Mterf4 T C 1: 93,232,689 (GRCm39) E54G probably benign Het
Mucl3 A G 17: 35,947,874 (GRCm39) S452P possibly damaging Het
Nuggc T A 14: 65,882,490 (GRCm39) I745N probably damaging Het
Or6k6 T C 1: 173,945,115 (GRCm39) I156V probably benign Het
Or7g18 A G 9: 18,786,910 (GRCm39) T93A possibly damaging Het
Parg A T 14: 31,930,758 (GRCm39) N126I possibly damaging Het
Pcdh9 T C 14: 94,123,987 (GRCm39) I728V possibly damaging Het
Pcdha1 C G 18: 37,065,511 (GRCm39) P725R probably benign Het
Pcdha11 T A 18: 37,145,849 (GRCm39) L647M probably damaging Het
Phb2 T C 6: 124,692,995 (GRCm39) probably null Het
Plb1 A G 5: 32,483,610 (GRCm39) probably null Het
Pmch T A 10: 87,927,113 (GRCm39) F39I probably benign Het
Psmd7 A T 8: 108,307,920 (GRCm39) S188T possibly damaging Het
Pycr2 T A 1: 180,733,913 (GRCm39) D168E probably damaging Het
Rab43 A G 6: 87,771,692 (GRCm39) Y96H probably damaging Het
Ralgapa2 C T 2: 146,184,334 (GRCm39) G1511S probably benign Het
Rb1cc1 T A 1: 6,319,138 (GRCm39) C852* probably null Het
Rexo2 T C 9: 48,380,145 (GRCm39) N229S probably damaging Het
Sema4f A G 6: 82,890,941 (GRCm39) V622A possibly damaging Het
Serpina10 T C 12: 103,594,806 (GRCm39) S138G probably benign Het
Sptbn4 T A 7: 27,061,059 (GRCm39) T2415S possibly damaging Het
Tbc1d22b A G 17: 29,792,040 (GRCm39) N257D probably benign Het
Tbl3 A G 17: 24,921,205 (GRCm39) F529L probably damaging Het
Them6 A T 15: 74,593,427 (GRCm39) N95I probably benign Het
Thrb T C 14: 18,008,608 (GRCm38) S156P possibly damaging Het
Tmem186 G A 16: 8,453,731 (GRCm39) R177C probably benign Het
Ttn T A 2: 76,660,937 (GRCm39) probably null Het
Unc13a T A 8: 72,110,979 (GRCm39) I411F probably benign Het
Uqcc1 T C 2: 155,752,073 (GRCm39) probably null Het
Vmn1r56 T C 7: 5,199,516 (GRCm39) T34A possibly damaging Het
Vps39 A T 2: 120,155,680 (GRCm39) Y542* probably null Het
Wdr64 T C 1: 175,556,542 (GRCm39) L263P probably damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Wfdc16 A G 2: 164,477,785 (GRCm39) M88T probably benign Het
Wnk4 A G 11: 101,160,403 (GRCm39) D679G probably damaging Het
Ykt6 T C 11: 5,912,751 (GRCm39) I151T probably benign Het
Zbtb46 A G 2: 181,033,225 (GRCm39) C479R probably damaging Het
Zc3h7a A G 16: 10,967,115 (GRCm39) I559T probably benign Het
Zfhx3 A G 8: 109,678,283 (GRCm39) N3111S possibly damaging Het
Zfp619 T C 7: 39,184,432 (GRCm39) V154A possibly damaging Het
Zfp629 A T 7: 127,211,601 (GRCm39) D69E probably benign Het
Zfp882 T A 8: 72,668,073 (GRCm39) I300N possibly damaging Het
Zfp934 T C 13: 62,666,358 (GRCm39) H106R possibly damaging Het
Zfta T C 19: 7,399,737 (GRCm39) S495P probably damaging Het
Zfyve9 G A 4: 108,576,298 (GRCm39) T261I possibly damaging Het
Other mutations in Evpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Evpl APN 11 116,125,331 (GRCm39) missense probably benign 0.01
IGL00896:Evpl APN 11 116,113,410 (GRCm39) nonsense probably null
IGL00941:Evpl APN 11 116,118,727 (GRCm39) missense probably benign 0.06
IGL01443:Evpl APN 11 116,113,280 (GRCm39) missense probably damaging 1.00
IGL01523:Evpl APN 11 116,124,270 (GRCm39) missense probably damaging 1.00
IGL01957:Evpl APN 11 116,114,048 (GRCm39) missense probably damaging 1.00
IGL02124:Evpl APN 11 116,117,841 (GRCm39) missense probably benign 0.01
IGL02334:Evpl APN 11 116,121,850 (GRCm39) nonsense probably null
IGL02457:Evpl APN 11 116,120,939 (GRCm39) missense possibly damaging 0.87
IGL02502:Evpl APN 11 116,113,544 (GRCm39) missense probably damaging 1.00
IGL02536:Evpl APN 11 116,112,035 (GRCm39) missense probably damaging 1.00
IGL02948:Evpl APN 11 116,112,648 (GRCm39) missense probably damaging 1.00
IGL03183:Evpl APN 11 116,112,438 (GRCm39) missense probably damaging 0.98
IGL03405:Evpl APN 11 116,118,753 (GRCm39) missense possibly damaging 0.89
A4554:Evpl UTSW 11 116,111,660 (GRCm39) missense probably damaging 1.00
BB005:Evpl UTSW 11 116,113,359 (GRCm39) missense possibly damaging 0.63
BB015:Evpl UTSW 11 116,113,359 (GRCm39) missense possibly damaging 0.63
PIT4449001:Evpl UTSW 11 116,124,225 (GRCm39) missense possibly damaging 0.87
R0082:Evpl UTSW 11 116,125,829 (GRCm39) missense probably damaging 1.00
R0108:Evpl UTSW 11 116,111,702 (GRCm39) missense probably damaging 1.00
R0514:Evpl UTSW 11 116,114,117 (GRCm39) missense probably damaging 0.99
R0581:Evpl UTSW 11 116,120,316 (GRCm39) missense probably benign 0.02
R0727:Evpl UTSW 11 116,123,311 (GRCm39) missense probably damaging 1.00
R0791:Evpl UTSW 11 116,118,549 (GRCm39) missense probably damaging 1.00
R0792:Evpl UTSW 11 116,118,549 (GRCm39) missense probably damaging 1.00
R1079:Evpl UTSW 11 116,120,894 (GRCm39) missense possibly damaging 0.48
R1514:Evpl UTSW 11 116,114,661 (GRCm39) missense probably benign
R1699:Evpl UTSW 11 116,118,414 (GRCm39) missense probably damaging 1.00
R1717:Evpl UTSW 11 116,116,318 (GRCm39) missense probably benign 0.06
R1775:Evpl UTSW 11 116,114,486 (GRCm39) missense possibly damaging 0.66
R1886:Evpl UTSW 11 116,118,402 (GRCm39) missense probably damaging 0.97
R1903:Evpl UTSW 11 116,117,854 (GRCm39) missense probably damaging 1.00
R2081:Evpl UTSW 11 116,125,092 (GRCm39) missense probably damaging 1.00
R2137:Evpl UTSW 11 116,112,665 (GRCm39) missense probably damaging 0.99
R2571:Evpl UTSW 11 116,128,795 (GRCm39) missense unknown
R3081:Evpl UTSW 11 116,111,678 (GRCm39) missense probably damaging 1.00
R4097:Evpl UTSW 11 116,114,003 (GRCm39) missense possibly damaging 0.89
R4541:Evpl UTSW 11 116,123,470 (GRCm39) missense probably benign 0.01
R4562:Evpl UTSW 11 116,124,225 (GRCm39) missense possibly damaging 0.87
R4703:Evpl UTSW 11 116,113,331 (GRCm39) missense probably damaging 0.98
R4947:Evpl UTSW 11 116,114,201 (GRCm39) missense possibly damaging 0.88
R5243:Evpl UTSW 11 116,113,795 (GRCm39) missense probably damaging 1.00
R5325:Evpl UTSW 11 116,112,191 (GRCm39) missense probably damaging 1.00
R5416:Evpl UTSW 11 116,125,085 (GRCm39) missense probably benign 0.13
R5580:Evpl UTSW 11 116,125,058 (GRCm39) missense probably benign 0.14
R5873:Evpl UTSW 11 116,125,258 (GRCm39) missense probably damaging 1.00
R6298:Evpl UTSW 11 116,121,748 (GRCm39) missense probably damaging 1.00
R6438:Evpl UTSW 11 116,120,927 (GRCm39) missense probably benign 0.00
R6742:Evpl UTSW 11 116,113,640 (GRCm39) missense possibly damaging 0.80
R6753:Evpl UTSW 11 116,128,732 (GRCm39) missense possibly damaging 0.95
R6764:Evpl UTSW 11 116,113,770 (GRCm39) missense probably damaging 0.99
R6846:Evpl UTSW 11 116,114,633 (GRCm39) missense probably damaging 1.00
R7278:Evpl UTSW 11 116,113,939 (GRCm39) missense probably damaging 1.00
R7288:Evpl UTSW 11 116,114,775 (GRCm39) missense probably benign
R7395:Evpl UTSW 11 116,117,905 (GRCm39) missense possibly damaging 0.94
R7441:Evpl UTSW 11 116,113,782 (GRCm39) nonsense probably null
R7505:Evpl UTSW 11 116,117,813 (GRCm39) critical splice donor site probably null
R7674:Evpl UTSW 11 116,113,394 (GRCm39) missense probably benign 0.40
R7772:Evpl UTSW 11 116,112,261 (GRCm39) missense probably benign 0.00
R7861:Evpl UTSW 11 116,118,895 (GRCm39) missense probably damaging 1.00
R7928:Evpl UTSW 11 116,113,359 (GRCm39) missense possibly damaging 0.63
R8008:Evpl UTSW 11 116,121,298 (GRCm39) missense probably null 0.21
R8040:Evpl UTSW 11 116,113,758 (GRCm39) missense probably damaging 0.99
R8052:Evpl UTSW 11 116,113,989 (GRCm39) missense probably benign 0.00
R8402:Evpl UTSW 11 116,116,197 (GRCm39) missense probably benign 0.03
R8513:Evpl UTSW 11 116,120,570 (GRCm39) critical splice donor site probably null
R8695:Evpl UTSW 11 116,114,489 (GRCm39) missense probably benign 0.02
R8725:Evpl UTSW 11 116,113,019 (GRCm39) missense probably benign 0.25
R8749:Evpl UTSW 11 116,120,232 (GRCm39) missense probably benign 0.01
R8807:Evpl UTSW 11 116,111,853 (GRCm39) missense probably damaging 1.00
R8883:Evpl UTSW 11 116,121,243 (GRCm39) missense probably damaging 0.99
R8947:Evpl UTSW 11 116,112,164 (GRCm39) missense probably damaging 1.00
R9123:Evpl UTSW 11 116,115,008 (GRCm39) missense possibly damaging 0.62
R9314:Evpl UTSW 11 116,118,503 (GRCm39) missense probably benign 0.13
R9581:Evpl UTSW 11 116,120,660 (GRCm39) missense probably benign 0.30
R9665:Evpl UTSW 11 116,123,497 (GRCm39) missense probably damaging 1.00
R9688:Evpl UTSW 11 116,124,986 (GRCm39) missense probably damaging 1.00
R9756:Evpl UTSW 11 116,112,077 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2019-11-26