Incidental Mutation 'R7278:Evpl'
ID 571569
Institutional Source Beutler Lab
Gene Symbol Evpl
Ensembl Gene ENSMUSG00000034282
Gene Name envoplakin
Synonyms 210kDa protein
MMRRC Submission 045360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7278 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116111385-116128903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116113939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1250 (E1250D)
Ref Sequence ENSEMBL: ENSMUSP00000037850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037007] [ENSMUST00000174177]
AlphaFold Q9D952
Predicted Effect probably damaging
Transcript: ENSMUST00000037007
AA Change: E1250D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: E1250D

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: 99.0%
Validation Efficiency 99% (78/79)
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
1110002E22Rik T C 3: 137,771,237 (GRCm39) L142P probably benign Het
Abca13 A T 11: 9,241,126 (GRCm39) R996S possibly damaging Het
Abcb6 A G 1: 75,151,017 (GRCm39) F558L possibly damaging Het
Acp7 T A 7: 28,330,307 (GRCm39) D2V unknown Het
Acvr1c T C 2: 58,174,948 (GRCm39) D280G probably damaging Het
Atp8a1 A G 5: 67,781,380 (GRCm39) S1124P Het
B4galnt1 A T 10: 127,003,657 (GRCm39) T207S probably benign Het
C2cd4d C A 3: 94,271,445 (GRCm39) T237N probably benign Het
C8b T C 4: 104,637,824 (GRCm39) C99R probably damaging Het
Ccnk C A 12: 108,159,964 (GRCm39) Q149K possibly damaging Het
Chfr A G 5: 110,288,226 (GRCm39) D47G probably benign Het
Chid1 A T 7: 141,109,401 (GRCm39) probably null Het
Cibar2 T A 8: 120,895,342 (GRCm39) T187S possibly damaging Het
Cmya5 T A 13: 93,232,208 (GRCm39) E960V probably damaging Het
Col18a1 A G 10: 76,932,118 (GRCm39) S112P unknown Het
Cps1 G A 1: 67,210,080 (GRCm39) V637I probably damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp2c54 A T 19: 40,058,697 (GRCm39) L245* probably null Het
Ddr2 G T 1: 169,812,530 (GRCm39) T654K probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Elavl4 C T 4: 110,068,622 (GRCm39) probably null Het
Emilin1 T C 5: 31,078,004 (GRCm39) V921A probably benign Het
Fam228a C T 12: 4,782,790 (GRCm39) G101E probably benign Het
Gemin4 T C 11: 76,102,932 (GRCm39) T610A probably damaging Het
Glis1 T C 4: 107,292,880 (GRCm39) M1T probably null Het
Gm14399 C T 2: 174,972,252 (GRCm39) probably benign Het
Gorasp2 C T 2: 70,509,849 (GRCm39) T170I probably damaging Het
Gpr37 A G 6: 25,669,341 (GRCm39) V501A possibly damaging Het
Grik4 T A 9: 42,533,356 (GRCm39) Q388L probably benign Het
Hspg2 T A 4: 137,278,436 (GRCm39) D3035E probably damaging Het
Htr4 A T 18: 62,545,247 (GRCm39) N11Y probably benign Het
Itgb2l A G 16: 96,230,243 (GRCm39) S356P probably damaging Het
Klk1b22 A G 7: 43,764,173 (GRCm39) N34D probably benign Het
Lmcd1 A G 6: 112,287,500 (GRCm39) D62G possibly damaging Het
Lrp2 C T 2: 69,316,696 (GRCm39) G2095E probably damaging Het
Macf1 T A 4: 123,334,536 (GRCm39) E4407V possibly damaging Het
Mcm5 T C 8: 75,851,487 (GRCm39) F631L probably benign Het
Mov10l1 A G 15: 88,878,071 (GRCm39) S170G probably benign Het
Muc5b A T 7: 141,411,239 (GRCm39) D1395V unknown Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Myh15 A G 16: 48,911,468 (GRCm39) D300G probably damaging Het
Naa80 T C 9: 107,460,498 (GRCm39) L131P probably damaging Het
Ndst4 A G 3: 125,231,952 (GRCm39) T174A probably benign Het
Nek5 T A 8: 22,580,500 (GRCm39) N406I probably benign Het
Nr2c2 G A 6: 92,136,359 (GRCm39) V400I probably damaging Het
Or1l4 T C 2: 37,092,092 (GRCm39) Y280H probably damaging Het
Or1l4b G T 2: 37,037,021 (GRCm39) V266L probably benign Het
Or51aa2 A T 7: 103,187,935 (GRCm39) Y169N probably benign Het
Or52m1 T C 7: 102,290,190 (GRCm39) S246P probably damaging Het
Or6b1 G A 6: 42,811,330 (GRCm39) probably null Het
Or6c5c T A 10: 129,298,620 (GRCm39) I25N probably damaging Het
Parn T C 16: 13,443,927 (GRCm39) probably null Het
Pfkl T C 10: 77,827,857 (GRCm39) T468A probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plce1 T C 19: 38,768,340 (GRCm39) I2205T possibly damaging Het
Prss16 A T 13: 22,187,317 (GRCm39) N442K probably damaging Het
Pus7 A G 5: 23,957,342 (GRCm39) S370P probably damaging Het
Ripk3 G T 14: 56,024,741 (GRCm39) Y210* probably null Het
Rps6ka2 C A 17: 7,539,034 (GRCm39) F317L probably damaging Het
Slc13a3 G A 2: 165,287,448 (GRCm39) R169W possibly damaging Het
Slc6a21 T A 7: 44,931,904 (GRCm39) I256N possibly damaging Het
Slc6a9 G A 4: 117,725,303 (GRCm39) R589Q probably benign Het
Slc8a2 T C 7: 15,875,077 (GRCm39) S442P probably damaging Het
Snupn T A 9: 56,890,028 (GRCm39) M283K probably damaging Het
Steap3 A T 1: 120,162,087 (GRCm39) M395K probably damaging Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Tlr1 A G 5: 65,084,115 (GRCm39) V154A probably benign Het
Tmem131 A G 1: 36,835,382 (GRCm39) S1580P probably damaging Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Trav14d-3-dv8 G A 14: 53,316,218 (GRCm39) R26H probably benign Het
Trp53 C T 11: 69,482,081 (GRCm39) L365F probably benign Het
Trp53bp1 A T 2: 121,029,516 (GRCm39) I1838N probably damaging Het
Ugt1a5 A T 1: 88,094,608 (GRCm39) K279* probably null Het
Unc80 A G 1: 66,591,368 (GRCm39) E1141G possibly damaging Het
Vti1b T C 12: 79,213,153 (GRCm39) D49G probably benign Het
Wnt10a A T 1: 74,832,641 (GRCm39) H78L possibly damaging Het
Zfp869 G A 8: 70,159,128 (GRCm39) H482Y probably damaging Het
Zfyve1 A G 12: 83,598,314 (GRCm39) V638A 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
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
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'- TTCTGCAGCTCGTACACAGC -3'
(R):5'- AGCGAGTCAGCGAGATCTTC -3'

Sequencing Primer
(F):5'- TACACAGCATCCTCCGTGG -3'
(R):5'- AGTCAGCGAGATCTTCCAGGTG -3'
Posted On 2019-09-13