Incidental Mutation 'R7288:Evpl'
ID 566179
Institutional Source Beutler Lab
Gene Symbol Evpl
Ensembl Gene ENSMUSG00000034282
Gene Name envoplakin
Synonyms 210kDa protein
MMRRC Submission 045395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7288 (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 116114775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 972 (N972D)
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: N972D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: N972D

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: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,131 (GRCm39) D204E probably benign Het
Adh1 T G 3: 137,988,493 (GRCm39) D155E probably benign Het
Akt1s1 T C 7: 44,498,571 (GRCm39) L2P unknown Het
Ash1l T A 3: 88,873,199 (GRCm39) probably benign Het
Bend7 C T 2: 4,757,641 (GRCm39) P228S probably damaging Het
Bpifc T C 10: 85,824,585 (GRCm39) E218G possibly damaging Het
Cdk6 T A 5: 3,479,001 (GRCm39) F127Y probably benign Het
Cgnl1 A T 9: 71,632,846 (GRCm39) H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 (GRCm39) T1612I possibly damaging Het
Col4a4 A T 1: 82,470,184 (GRCm39) C782S unknown Het
Copg2 T A 6: 30,801,341 (GRCm39) I364L probably damaging Het
Crygb A G 1: 65,121,084 (GRCm39) L81P probably benign Het
Cyp4f18 A T 8: 72,747,017 (GRCm39) M326K probably damaging Het
Dhx34 A G 7: 15,949,361 (GRCm39) S356P probably benign Het
Dmbt1 C T 7: 130,685,519 (GRCm39) Q855* probably null Het
Dnai3 T C 3: 145,787,007 (GRCm39) T343A probably damaging Het
Dnph1 A G 17: 46,809,938 (GRCm39) N160S probably benign Het
Esrra A T 19: 6,890,139 (GRCm39) C228* probably null Het
Fat3 T C 9: 15,909,888 (GRCm39) D2038G probably damaging Het
Fhit T A 14: 9,763,784 (GRCm38) R102W probably damaging Het
Gal3st1 A T 11: 3,948,609 (GRCm39) D272V probably damaging Het
Gal3st1 T A 11: 3,948,651 (GRCm39) V286D probably damaging Het
Gemin4 A T 11: 76,104,206 (GRCm39) M185K possibly damaging Het
Hecw1 T C 13: 14,490,821 (GRCm39) I311V probably benign Het
Ift172 T C 5: 31,442,630 (GRCm39) Y179C probably damaging Het
Ighv7-3 C T 12: 114,116,963 (GRCm39) W66* probably null Het
Iqgap3 T A 3: 88,016,142 (GRCm39) I975N probably damaging Het
Khdrbs3 A G 15: 68,921,262 (GRCm39) E281G possibly damaging Het
Lamb2 A T 9: 108,365,523 (GRCm39) T1369S probably benign Het
Mettl8 A T 2: 70,812,382 (GRCm39) D84E probably benign Het
Mrgprb3 C A 7: 48,293,059 (GRCm39) C164F probably damaging Het
Mtg2 A G 2: 179,725,180 (GRCm39) Y131C probably damaging Het
Nacc1 C T 8: 85,403,174 (GRCm39) A234T probably benign Het
Nsmaf C T 4: 6,416,641 (GRCm39) V551I probably benign Het
Or13a26 T A 7: 140,284,942 (GRCm39) C259* probably null Het
Or7e175 T A 9: 20,048,737 (GRCm39) Y108* probably null Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Pcdhb12 T A 18: 37,569,068 (GRCm39) D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pkm A G 9: 59,576,196 (GRCm39) S127G probably benign Het
Plxna2 T A 1: 194,479,227 (GRCm39) L1296H probably damaging Het
Ppil6 C G 10: 41,374,524 (GRCm39) T135R probably benign Het
Ppp2r3d T C 9: 101,004,203 (GRCm39) Y378C probably damaging Het
Rabep2 C T 7: 126,043,377 (GRCm39) R426C probably damaging Het
Rad21 A T 15: 51,845,976 (GRCm39) H31Q possibly damaging Het
Rad50 G T 11: 53,545,776 (GRCm39) Y1182* probably null Het
Serpinb9c C T 13: 33,335,883 (GRCm39) A218T possibly damaging Het
Slc34a1 C A 13: 24,003,095 (GRCm39) H248Q probably benign Het
Slc45a4 C A 15: 73,458,785 (GRCm39) E255* probably null Het
Slc8a3 T A 12: 81,263,598 (GRCm39) K596N possibly damaging Het
Tbc1d32 A C 10: 55,927,483 (GRCm39) probably null Het
Tbl2 T A 5: 135,183,253 (GRCm39) I112N possibly damaging Het
Tchp A C 5: 114,853,630 (GRCm39) K238T probably damaging Het
Tfap2d G A 1: 19,189,207 (GRCm39) G251D probably damaging Het
Thrb T A 14: 18,030,186 (GRCm38) M324K probably damaging Het
Tmem259 A T 10: 79,814,300 (GRCm39) L328Q probably damaging Het
Tmtc2 T C 10: 105,249,469 (GRCm39) H88R probably damaging Het
Tnfrsf21 A G 17: 43,348,709 (GRCm39) H107R possibly damaging Het
Trib1 T C 15: 59,526,471 (GRCm39) V347A probably benign Het
Ung T A 5: 114,269,315 (GRCm39) L9* probably null Het
Vmn1r195 G T 13: 22,463,174 (GRCm39) V215F probably damaging Het
Wdr90 A G 17: 26,065,286 (GRCm39) S1657P probably benign Het
Wdsub1 A T 2: 59,708,487 (GRCm39) Y129N possibly damaging Het
Zfp369 T G 13: 65,432,832 (GRCm39) probably null Het
Zfp770 G T 2: 114,026,142 (GRCm39) C642* probably null Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign Het
Zhx3 A C 2: 160,623,042 (GRCm39) V375G 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
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
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'- TCACTGTGGAGCTGGGTAAC -3'
(R):5'- GATGAGGACATCCAAGCCATC -3'

Sequencing Primer
(F):5'- CCAAGTGGACAACCTTCT -3'
(R):5'- ACAGGGATCTGGGAGTCC -3'
Posted On 2019-06-26