Incidental Mutation 'R8052:Evpl'
ID 619128
Institutional Source Beutler Lab
Gene Symbol Evpl
Ensembl Gene ENSMUSG00000034282
Gene Name envoplakin
Synonyms 210kDa protein
MMRRC Submission 067489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8052 (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 C at 116113989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1234 (K1234E)
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: K1234E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: K1234E

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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,843,555 (GRCm39) T297A probably benign Het
Acadl G T 1: 66,892,337 (GRCm39) T162K probably benign Het
Aldoart2 A T 12: 55,612,536 (GRCm39) I154F probably damaging Het
Alkbh8 G A 9: 3,385,478 (GRCm39) R625H probably damaging Het
Ankrd31 T A 13: 96,969,036 (GRCm39) V891E probably benign Het
Aopep G A 13: 63,216,065 (GRCm39) V446I probably damaging Het
Atp8b5 C T 4: 43,356,982 (GRCm39) R577* probably null Het
Capn3 G T 2: 120,316,867 (GRCm39) E285D probably benign Het
Cd79b G T 11: 106,204,526 (GRCm39) P87T probably damaging Het
Celsr2 T G 3: 108,319,971 (GRCm39) D947A probably damaging Het
Csmd3 A C 15: 47,569,783 (GRCm39) S1213R Het
Cyp2j5 T C 4: 96,552,241 (GRCm39) M3V probably benign Het
Ddi1 C T 9: 6,265,787 (GRCm39) R194K probably benign Het
Decr1 T C 4: 15,933,019 (GRCm39) K49R probably benign Het
Dnah10 A C 5: 124,905,575 (GRCm39) E4130A probably benign Het
Dst A G 1: 34,323,444 (GRCm39) D4648G probably damaging Het
Ecd A G 14: 20,380,020 (GRCm39) probably null Het
Erbin A T 13: 103,970,864 (GRCm39) Y917* probably null Het
F11r T A 1: 171,289,191 (GRCm39) Y218N possibly damaging Het
Fam43a C G 16: 30,420,622 (GRCm39) T402S probably benign Het
Frem2 T C 3: 53,457,064 (GRCm39) N2096S probably benign Het
Gpd2 T A 2: 57,196,962 (GRCm39) Y172* probably null Het
Hscb A G 5: 110,983,844 (GRCm39) V90A probably benign Het
Iqgap2 T C 13: 95,794,387 (GRCm39) D1195G probably damaging Het
Map2k2 T C 10: 80,950,900 (GRCm39) I115T probably damaging Het
Mast2 C T 4: 116,170,172 (GRCm39) R707H probably damaging Het
Mindy4 A G 6: 55,277,977 (GRCm39) N607S probably damaging Het
Mrpl9 T A 3: 94,351,050 (GRCm39) Y77N probably damaging Het
Muc16 G A 9: 18,570,347 (GRCm39) T724I unknown Het
Nat3 A T 8: 68,000,478 (GRCm39) Y119F possibly damaging Het
Nol7 T C 13: 43,554,990 (GRCm39) S208P probably damaging Het
Notch3 A T 17: 32,365,545 (GRCm39) C1056S probably damaging Het
Nup50l TCC TCCGCC 6: 96,142,078 (GRCm39) probably benign Het
Nup50l TCC TCCCCC 6: 96,142,084 (GRCm39) probably benign Het
Or13j1 A T 4: 43,705,884 (GRCm39) V228E probably damaging Het
Or3a4 T A 11: 73,945,301 (GRCm39) I95F probably benign Het
Or5al5 A T 2: 85,961,721 (GRCm39) Y95* probably null Het
Or8g17 G T 9: 38,930,783 (GRCm39) T18K probably damaging Het
Osbpl3 A C 6: 50,322,995 (GRCm39) L288R probably damaging Het
Oscp1 A C 4: 125,982,116 (GRCm39) D352A possibly damaging Het
Pcdh9 G A 14: 94,123,222 (GRCm39) R983C probably benign Het
Pcdhgb8 T C 18: 37,896,555 (GRCm39) S542P probably benign Het
Pi4ka T C 16: 17,174,030 (GRCm39) T490A Het
Pkd1l1 A T 11: 8,897,315 (GRCm39) D531E Het
Potefam3d A T 8: 69,975,404 (GRCm39) Y21N possibly damaging Het
Prr3 G T 17: 36,290,053 (GRCm39) D26E possibly damaging Het
Psmd8 T C 7: 28,880,001 (GRCm39) K24E probably benign Het
Rasgrp4 G A 7: 28,849,362 (GRCm39) C583Y probably damaging Het
Rest A G 5: 77,416,171 (GRCm39) I128M probably benign Het
Rftn1 A T 17: 50,393,607 (GRCm39) F144I probably damaging Het
Rusc2 T C 4: 43,421,851 (GRCm39) F757S probably benign Het
Ryr1 A G 7: 28,782,810 (GRCm39) S1942P probably benign Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sergef G T 7: 46,264,062 (GRCm39) T275K probably damaging Het
Serpina10 T C 12: 103,594,569 (GRCm39) T217A probably damaging Het
Shd G C 17: 56,283,235 (GRCm39) S288T probably damaging Het
Siglec15 C A 18: 78,091,803 (GRCm39) A133S possibly damaging Het
Stat4 C T 1: 52,118,932 (GRCm39) P325L probably damaging Het
Syt8 G A 7: 141,993,881 (GRCm39) G344D probably damaging Het
Tes A G 6: 17,097,291 (GRCm39) E133G probably benign Het
Tmprss2 T C 16: 97,369,616 (GRCm39) Y386C probably damaging Het
Tnfrsf11b A T 15: 54,115,502 (GRCm39) L365Q probably damaging Het
Tns1 T A 1: 73,992,596 (GRCm39) D67V probably damaging Het
Tns2 T C 15: 102,021,280 (GRCm39) S982P probably damaging Het
Tpcn2 A T 7: 144,814,683 (GRCm39) F473I probably benign Het
Tsg101 A T 7: 46,542,257 (GRCm39) I232N probably damaging Het
Ttc3 T C 16: 94,268,848 (GRCm39) S1977P probably benign Het
Ttll11 T A 2: 35,869,527 (GRCm39) E37V unknown Het
Ttn A T 2: 76,649,160 (GRCm39) V12716E possibly damaging Het
Vmn2r70 A C 7: 85,212,923 (GRCm39) S495A probably benign Het
Zfp974 A G 7: 27,610,697 (GRCm39) C343R probably damaging Het
Zfy1 A T Y: 726,004 (GRCm39) I587N 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
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
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 PCR Primer
(F):5'- AGCTCGTACACAGCATCCTC -3'
(R):5'- TTCTCAAGGAGGCTTCCAGG -3'

Sequencing Primer
(F):5'- TACACAGCATCCTCCGTGG -3'
(R):5'- GCTTCCAGGCTGAGAAGC -3'
Posted On 2020-01-23