Incidental Mutation 'IGL02502:Evpl'
ID296087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Evpl
Ensembl Gene ENSMUSG00000034282
Gene Nameenvoplakin
Synonyms210kDa protein
Accession Numbers

Genbank: NM_025276; MGI: 107507

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02502
Quality Score
Status
Chromosome11
Chromosomal Location116220559-116238077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116222718 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 1382 (D1382G)
Ref Sequence ENSEMBL: ENSMUSP00000037850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037007] [ENSMUST00000174177]
Predicted Effect probably damaging
Transcript: ENSMUST00000037007
AA Change: D1382G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: D1382G

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 noncoding transcript
Transcript: ENSMUST00000173567
Predicted Effect probably benign
Transcript: ENSMUST00000174177
SMART Domains Protein: ENSMUSP00000134251
Gene: ENSMUSG00000092300

DomainStartEndE-ValueType
S_TKc 4 285 4e-105 SMART
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 128,075,884 N216S probably damaging Het
Akap12 A G 10: 4,353,163 D96G probably damaging Het
Akna A G 4: 63,368,203 V1353A probably benign Het
Ambra1 A G 2: 91,900,532 D914G probably damaging Het
Ap1s3 A G 1: 79,623,722 V84A possibly damaging Het
Arhgef6 T C X: 57,280,263 E282G probably damaging Het
C2cd2 G T 16: 97,876,390 S378Y possibly damaging Het
Cd101 C A 3: 101,011,825 A654S probably damaging Het
Cep295 A C 9: 15,350,913 probably benign Het
Csn1s1 A G 5: 87,680,925 I283V probably benign Het
Cst3 A G 2: 148,875,145 probably benign Het
Cyp2b9 T C 7: 26,187,814 probably null Het
Dffb A G 4: 153,965,616 probably benign Het
Dnah10 A G 5: 124,821,287 Y3711C probably damaging Het
Eif4g2 T C 7: 111,081,541 S3G probably damaging Het
Erbb3 C T 10: 128,570,284 R1088H probably benign Het
Fam168a A G 7: 100,824,210 D102G probably damaging Het
Fbxo7 A G 10: 86,033,297 Y284C probably damaging Het
G6pd2 T C 5: 61,809,628 Y249H probably damaging Het
Gm1123 A T 9: 99,009,390 Y335* probably null Het
Gm5624 C T 14: 44,559,839 probably null Het
Hectd1 A T 12: 51,797,852 M536K possibly damaging Het
Ikbkg T A X: 74,443,827 V334E probably benign Het
Ipo7 T C 7: 110,051,050 L769P probably damaging Het
Jmjd1c A T 10: 67,225,861 K1331I probably benign Het
Krt32 T C 11: 100,087,923 K102E probably damaging Het
Lrrc34 A T 3: 30,645,245 N20K probably benign Het
Lrrc47 A G 4: 154,016,014 E349G probably benign Het
Mdn1 A G 4: 32,670,579 I415V possibly damaging Het
Myh10 A G 11: 68,814,372 probably null Het
Nbeal2 A G 9: 110,633,768 S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 probably benign Het
Notch3 A T 17: 32,158,278 C246* probably null Het
Nr3c2 A G 8: 77,242,514 Y976C probably damaging Het
Olfr1484 A G 19: 13,585,748 Y105C probably damaging Het
Olfr503 T A 7: 108,544,639 M36K probably damaging Het
Olfr64 A G 7: 103,893,489 V82A probably damaging Het
P2rx7 C T 5: 122,680,987 R491C possibly damaging Het
Pdzd3 G A 9: 44,249,651 A206V probably benign Het
Phex T A X: 157,183,827 Y625F possibly damaging Het
Pkhd1 T C 1: 20,392,165 D2055G probably damaging Het
Pmm2 T C 16: 8,645,363 probably benign Het
Prdm15 T C 16: 97,839,339 D16G probably damaging Het
Prune2 T A 19: 17,123,881 C2250S probably benign Het
Rasgef1a T A 6: 118,080,482 F48Y probably benign Het
Rhoq T C 17: 86,963,649 V15A probably damaging Het
Rnf216 G A 5: 143,068,867 A585V probably damaging Het
Sept9 T A 11: 117,290,662 I96N probably damaging Het
Shprh T A 10: 11,194,357 D1492E possibly damaging Het
Slc22a26 A T 19: 7,790,760 probably null Het
Tek T G 4: 94,853,581 probably null Het
Tenm3 T C 8: 48,288,016 E782G probably damaging Het
Trmt5 A G 12: 73,281,227 C401R probably benign Het
Tspear T G 10: 77,852,958 probably benign Het
Ubr5 G A 15: 38,030,689 T414I probably benign Het
Vcl A T 14: 21,019,385 T710S probably damaging Het
Vmn2r25 A T 6: 123,839,433 D396E probably damaging Het
Wtip A G 7: 34,118,669 probably null Het
Zap70 A G 1: 36,778,806 probably benign Het
Other mutations in Evpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Evpl APN 11 116234505 missense probably benign 0.01
IGL00896:Evpl APN 11 116222584 nonsense probably null
IGL00941:Evpl APN 11 116227901 missense probably benign 0.06
IGL01443:Evpl APN 11 116222454 missense probably damaging 1.00
IGL01523:Evpl APN 11 116233444 missense probably damaging 1.00
IGL01957:Evpl APN 11 116223222 missense probably damaging 1.00
IGL02124:Evpl APN 11 116227015 missense probably benign 0.01
IGL02334:Evpl APN 11 116231024 nonsense probably null
IGL02457:Evpl APN 11 116230113 missense possibly damaging 0.87
IGL02536:Evpl APN 11 116221209 missense probably damaging 1.00
IGL02948:Evpl APN 11 116221822 missense probably damaging 1.00
IGL03183:Evpl APN 11 116221612 missense probably damaging 0.98
IGL03405:Evpl APN 11 116227927 missense possibly damaging 0.89
A4554:Evpl UTSW 11 116220834 missense probably damaging 1.00
BB005:Evpl UTSW 11 116222533 missense possibly damaging 0.63
BB015:Evpl UTSW 11 116222533 missense possibly damaging 0.63
PIT4449001:Evpl UTSW 11 116233399 missense possibly damaging 0.87
R0082:Evpl UTSW 11 116235003 missense probably damaging 1.00
R0108:Evpl UTSW 11 116220876 missense probably damaging 1.00
R0514:Evpl UTSW 11 116223291 missense probably damaging 0.99
R0581:Evpl UTSW 11 116229490 missense probably benign 0.02
R0727:Evpl UTSW 11 116232485 missense probably damaging 1.00
R0791:Evpl UTSW 11 116227723 missense probably damaging 1.00
R0792:Evpl UTSW 11 116227723 missense probably damaging 1.00
R1079:Evpl UTSW 11 116230068 missense possibly damaging 0.48
R1514:Evpl UTSW 11 116223835 missense probably benign
R1699:Evpl UTSW 11 116227588 missense probably damaging 1.00
R1717:Evpl UTSW 11 116225492 missense probably benign 0.06
R1775:Evpl UTSW 11 116223660 missense possibly damaging 0.66
R1886:Evpl UTSW 11 116227576 missense probably damaging 0.97
R1903:Evpl UTSW 11 116227028 missense probably damaging 1.00
R2081:Evpl UTSW 11 116234266 missense probably damaging 1.00
R2137:Evpl UTSW 11 116221839 missense probably damaging 0.99
R2571:Evpl UTSW 11 116237969 missense unknown
R3081:Evpl UTSW 11 116220852 missense probably damaging 1.00
R4097:Evpl UTSW 11 116223177 missense possibly damaging 0.89
R4541:Evpl UTSW 11 116232644 missense probably benign 0.01
R4562:Evpl UTSW 11 116233399 missense possibly damaging 0.87
R4703:Evpl UTSW 11 116222505 missense probably damaging 0.98
R4947:Evpl UTSW 11 116223375 missense possibly damaging 0.88
R5243:Evpl UTSW 11 116222969 missense probably damaging 1.00
R5325:Evpl UTSW 11 116221365 missense probably damaging 1.00
R5416:Evpl UTSW 11 116234259 missense probably benign 0.13
R5580:Evpl UTSW 11 116234232 missense probably benign 0.14
R5873:Evpl UTSW 11 116234432 missense probably damaging 1.00
R6298:Evpl UTSW 11 116230922 missense probably damaging 1.00
R6438:Evpl UTSW 11 116230101 missense probably benign 0.00
R6742:Evpl UTSW 11 116222814 missense possibly damaging 0.80
R6753:Evpl UTSW 11 116237906 missense possibly damaging 0.95
R6764:Evpl UTSW 11 116222944 missense probably damaging 0.99
R6846:Evpl UTSW 11 116223807 missense probably damaging 1.00
R7278:Evpl UTSW 11 116223113 missense probably damaging 1.00
R7288:Evpl UTSW 11 116223949 missense probably benign
R7395:Evpl UTSW 11 116227079 missense possibly damaging 0.94
R7441:Evpl UTSW 11 116222956 nonsense probably null
R7505:Evpl UTSW 11 116226987 critical splice donor site probably null
R7674:Evpl UTSW 11 116222568 missense probably benign 0.40
R7772:Evpl UTSW 11 116221435 missense probably benign 0.00
R7780:Evpl UTSW 11 116234174 missense not run
R7861:Evpl UTSW 11 116228069 missense probably damaging 1.00
R7928:Evpl UTSW 11 116222533 missense possibly damaging 0.63
R8008:Evpl UTSW 11 116230472 missense probably null 0.21
R8040:Evpl UTSW 11 116222932 missense probably damaging 0.99
R8052:Evpl UTSW 11 116223163 missense probably benign 0.00
Posted On2015-04-16