Incidental Mutation 'R8725:Evpl'
ID 673204
Institutional Source Beutler Lab
Gene Symbol Evpl
Ensembl Gene ENSMUSG00000034282
Gene Name envoplakin
Synonyms 210kDa protein
MMRRC Submission 068574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8725 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 116111385-116128903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116113019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1557 (D1557V)
Ref Sequence ENSEMBL: ENSMUSP00000037850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037007] [ENSMUST00000174177]
AlphaFold Q9D952
Predicted Effect probably benign
Transcript: ENSMUST00000037007
AA Change: D1557V

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: D1557V

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
Predicted Effect probably benign
Transcript: ENSMUST00000174177
SMART Domains Protein: ENSMUSP00000134251
Gene: ENSMUSG00000092300

DomainStartEndE-ValueType
S_TKc 4 285 4e-105 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,287,075 (GRCm39) W69R probably damaging Het
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Ahdc1 T A 4: 132,792,743 (GRCm39) V1328E possibly damaging Het
Bpifb2 A G 2: 153,731,356 (GRCm39) H244R possibly damaging Het
Camk1 C A 6: 113,315,109 (GRCm39) V199L probably damaging Het
Ccdc18 A T 5: 108,328,283 (GRCm39) K661I possibly damaging Het
Cdh16 C T 8: 105,344,874 (GRCm39) V444I probably benign Het
Cep295 A T 9: 15,243,715 (GRCm39) Y1580* probably null Het
Cntnap5c A T 17: 58,362,663 (GRCm39) N339Y probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Deup1 T A 9: 15,503,721 (GRCm39) D280V probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Ext1 A G 15: 53,208,065 (GRCm39) V232A possibly damaging Het
Gdpd5 T C 7: 99,105,726 (GRCm39) I514T possibly damaging Het
Gm14443 A T 2: 175,010,693 (GRCm39) C584* probably null Het
Gm2696 T A 10: 77,672,034 (GRCm39) C78S unknown Het
Gm4131 T C 14: 62,701,300 (GRCm39) D276G possibly damaging Het
Gm5114 C T 7: 39,060,657 (GRCm39) G64D probably benign Het
Gsx2 G T 5: 75,236,755 (GRCm39) A112S probably benign Het
Hebp1 G T 6: 135,114,919 (GRCm39) R181S probably damaging Het
Hectd4 G A 5: 121,488,557 (GRCm39) G3616D probably damaging Het
Hemgn T G 4: 46,394,638 (GRCm39) T491P probably benign Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Itsn1 T C 16: 91,636,721 (GRCm39) S723P unknown Het
Kat6a G A 8: 23,398,293 (GRCm39) G287D probably damaging Het
Ktn1 T G 14: 47,907,757 (GRCm39) probably benign Het
Lrrc56 C A 7: 140,778,246 (GRCm39) D79E possibly damaging Het
Lrrn1 C T 6: 107,544,303 (GRCm39) Q34* probably null Het
Mlxipl A G 5: 135,157,483 (GRCm39) M340V probably benign Het
Mroh6 T C 15: 75,756,563 (GRCm39) T604A possibly damaging Het
Or13a26 G T 7: 140,284,607 (GRCm39) V148L probably benign Het
Or1n1 T A 2: 36,749,610 (GRCm39) Y250F probably damaging Het
Or4c122 A T 2: 89,079,658 (GRCm39) S115T probably benign Het
Palb2 A C 7: 121,710,884 (GRCm39) V1022G unknown Het
Pank1 T G 19: 34,855,989 (GRCm39) H163P possibly damaging Het
Pcdha12 A G 18: 37,154,736 (GRCm39) Q485R probably benign Het
Pcdhb15 T A 18: 37,608,734 (GRCm39) S655R probably damaging Het
Pcdhgb1 T A 18: 37,814,467 (GRCm39) C319* probably null Het
Pipox A T 11: 77,774,804 (GRCm39) L93* probably null Het
Pkd1l1 A C 11: 8,911,482 (GRCm39) V265G Het
Pld3 G A 7: 27,239,079 (GRCm39) Q149* probably null Het
Pramel34 A T 5: 93,784,316 (GRCm39) Y383N probably damaging Het
Prpf3 T A 3: 95,748,021 (GRCm39) T415S possibly damaging Het
Rasgef1b G A 5: 99,447,895 (GRCm39) T105I unknown Het
Rere G T 4: 150,701,792 (GRCm39) E24* probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Ric3 A T 7: 108,637,924 (GRCm39) D277E probably benign Het
Rnf44 A T 13: 54,831,826 (GRCm39) M82K probably damaging Het
Rsph14 T C 10: 74,795,516 (GRCm39) N223S probably benign Het
Rusc2 A G 4: 43,415,396 (GRCm39) E234G probably damaging Het
Scfd2 T C 5: 74,642,900 (GRCm39) N349S probably benign Het
Sema3d G A 5: 12,555,822 (GRCm39) C183Y probably damaging Het
Setd2 T C 9: 110,402,912 (GRCm39) I74T Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Slc9a8 A T 2: 167,315,454 (GRCm39) D526V probably damaging Het
Smpdl3b G T 4: 132,461,060 (GRCm39) T339N probably damaging Het
Speer1e A T 5: 11,236,408 (GRCm39) Q147L probably benign Het
Spi1 G A 2: 90,945,516 (GRCm39) G199D probably damaging Het
Stx2 T C 5: 129,070,564 (GRCm39) T118A probably damaging Het
Synj2 C A 17: 6,088,015 (GRCm39) S1355R possibly damaging Het
Taf15 A G 11: 83,389,964 (GRCm39) T245A probably benign Het
Tnrc6b C T 15: 80,760,653 (GRCm39) A120V probably damaging Het
Usp19 G T 9: 108,370,934 (GRCm39) G198W probably damaging Het
Wdtc1 G T 4: 133,041,114 (GRCm39) H46N probably damaging Het
Zbtb1 C A 12: 76,432,646 (GRCm39) R211S probably damaging Het
Zc3h8 A G 2: 128,775,207 (GRCm39) V151A probably benign Het
Zfp219 T C 14: 52,244,899 (GRCm39) T499A possibly damaging Het
Zfp689 A G 7: 127,047,940 (GRCm39) F31L probably damaging Het
Zfp879 C T 11: 50,729,321 (GRCm39) D26N probably 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
R7780:Evpl UTSW 11 116,125,000 (GRCm39) missense not run
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
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 PCR Primer
(F):5'- TCCGTCTTCTGGCTAAGCAG -3'
(R):5'- AGTTAGAGAAAGATCCTGACCTGG -3'

Sequencing Primer
(F):5'- GCTAAGCAGCCTCCCCTC -3'
(R):5'- TGGAGAGGTCTACAGAAGCTC -3'
Posted On 2021-04-30