Mutagenetix > Incidental Mutation

Incidental Mutation 'R1903:Evpl'

209975

Institutional Source

Beutler Lab

Gene Symbol

Evpl

Ensembl Gene

ENSMUSG00000034282

Gene Name

envoplakin

Synonyms

210kDa protein

MMRRC Submission

039923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1903 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

116111385-116128903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116117854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 778 (D778E)

Ref Sequence

ENSEMBL: ENSMUSP00000037850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037007]

AlphaFold

Q9D952

Predicted Effect

probably damaging
Transcript: ENSMUST00000037007
AA Change: D778E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: D778E

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,165,635 (GRCm39)	S246R	possibly damaging	Het
Abca13	C	T	11: 9,416,411 (GRCm39)	R4058C	probably benign	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adam22	C	T	5: 8,184,525 (GRCm39)	C489Y	probably damaging	Het
Agap3	A	T	5: 24,698,011 (GRCm39)	K460I	probably damaging	Het
Ak4	T	C	4: 101,320,833 (GRCm39)	I214T	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arrb2	T	A	11: 70,328,808 (GRCm39)	H221Q	probably damaging	Het
Atl1	T	G	12: 70,006,049 (GRCm39)	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063 (GRCm39)	T604A	probably damaging	Het
Bglap3	T	C	3: 88,276,068 (GRCm39)	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Ccnl1	A	G	3: 65,854,332 (GRCm39)	S430P	possibly damaging	Het
Cdhr18	C	T	14: 13,829,657 (GRCm38)	S695N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,321,791 (GRCm39)		probably null	Het
Cep126	A	T	9: 8,120,748 (GRCm39)	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnga1	T	G	5: 72,774,068 (GRCm39)	D90A	possibly damaging	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466 (GRCm39)	S314P	probably damaging	Het
Crhr1	A	G	11: 104,060,675 (GRCm39)	R151G	probably damaging	Het
Crybg2	A	G	4: 133,806,167 (GRCm39)	I930V	probably damaging	Het
Ctcf	T	A	8: 106,402,620 (GRCm39)		probably null	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Decr2	A	T	17: 26,306,387 (GRCm39)	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,106,136 (GRCm39)	L346R	probably damaging	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
Duox2	T	A	2: 122,125,832 (GRCm39)	I296F	probably damaging	Het
Ece2	T	A	16: 20,463,922 (GRCm39)	L890H	probably damaging	Het
Ecsit	A	G	9: 21,987,815 (GRCm39)	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,654,687 (GRCm39)	C664R	probably damaging	Het
Eya3	T	A	4: 132,448,663 (GRCm39)		probably null	Het
Fam217b	A	T	2: 178,062,374 (GRCm39)	I113F	probably benign	Het
Galnt6	G	A	15: 100,613,999 (GRCm39)	P101S	possibly damaging	Het
Gm379	G	A	X: 107,707,870 (GRCm39)	Q210*	probably null	Het
Grk4	A	T	5: 34,833,531 (GRCm39)		probably null	Het
Gtf3c4	A	G	2: 28,729,968 (GRCm39)	V91A	probably benign	Het
Hcfc2	G	T	10: 82,538,392 (GRCm39)	G143V	probably damaging	Het
Heatr4	A	C	12: 84,005,221 (GRCm39)	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,817,681 (GRCm39)	D97E	probably damaging	Het
Htr4	T	G	18: 62,561,193 (GRCm39)	F151L	probably benign	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824 (GRCm39)		probably null	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irs1	T	C	1: 82,267,182 (GRCm39)	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif26a	C	T	12: 112,141,974 (GRCm39)	R743C	probably damaging	Het
Kif28	A	G	1: 179,530,088 (GRCm39)	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,324,330 (GRCm39)	L696Q	probably benign	Het
Krtap5-1	T	C	7: 141,850,084 (GRCm39)		probably benign	Het
Lama2	A	C	10: 27,064,395 (GRCm39)	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,379,209 (GRCm39)	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,876,879 (GRCm39)	E422G	probably benign	Het
Man2b1	T	A	8: 85,813,451 (GRCm39)	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,162,422 (GRCm39)	D628V	possibly damaging	Het
Msantd5f6	T	A	4: 73,321,675 (GRCm39)	Y120F	probably damaging	Het
Myo18b	G	A	5: 112,840,624 (GRCm39)	R2390C	probably damaging	Het
Mypn	T	A	10: 62,959,176 (GRCm39)	R1048S	probably benign	Het
Napepld	A	G	5: 21,870,270 (GRCm39)	S383P	probably damaging	Het
Napsa	A	G	7: 44,231,160 (GRCm39)	T130A	probably damaging	Het
Nbr1	T	C	11: 101,465,978 (GRCm39)	I716T	probably damaging	Het
Nexn	A	T	3: 151,953,818 (GRCm39)	M212K	probably damaging	Het
Nlrp9b	T	A	7: 19,757,182 (GRCm39)	S140T	probably benign	Het
Nxpe2	T	C	9: 48,230,906 (GRCm39)	T488A	probably benign	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or10v1	A	T	19: 11,873,913 (GRCm39)	Y176F	probably benign	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or7g12	A	T	9: 18,900,192 (GRCm39)	K303*	probably null	Het
Or8k20	C	T	2: 86,106,190 (GRCm39)	V214I	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pan2	T	G	10: 128,144,237 (GRCm39)	L162R	probably damaging	Het
Parp1	G	T	1: 180,416,235 (GRCm39)	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,709,896 (GRCm39)	V473A	probably benign	Het
Plb1	A	T	5: 32,448,582 (GRCm39)	N350I	probably damaging	Het
Polr1a	A	G	6: 71,944,898 (GRCm39)	K1318R	probably benign	Het
Ppp1r18	C	T	17: 36,184,738 (GRCm39)	P130S	probably damaging	Het
Prss48	C	T	3: 85,905,614 (GRCm39)	W86*	probably null	Het
Rab3c	A	T	13: 110,220,744 (GRCm39)	I137N	probably damaging	Het
Rab3gap2	G	C	1: 184,954,099 (GRCm39)	R57P	probably benign	Het
Rad54l2	A	C	9: 106,570,916 (GRCm39)		probably null	Het
Ralgapb	C	A	2: 158,337,483 (GRCm39)	N1147K	probably benign	Het
Rfx7	C	T	9: 72,524,093 (GRCm39)	R428C	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Shprh	T	A	10: 11,059,541 (GRCm39)	Y1097*	probably null	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,097,876 (GRCm39)	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254 (GRCm39)	I286F	probably benign	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,865,882 (GRCm39)	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,569,900 (GRCm39)	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,914,346 (GRCm39)	T1219M	probably damaging	Het
Tesk1	T	C	4: 43,446,998 (GRCm39)	M462T	probably benign	Het
Thoc2l	T	A	5: 104,666,196 (GRCm39)	S239R	probably benign	Het
Tmem171	C	A	13: 98,822,924 (GRCm39)	G292*	probably null	Het
Tmtc2	G	T	10: 105,025,969 (GRCm39)	T833N	probably benign	Het
Tnc	G	T	4: 63,918,299 (GRCm39)	T1204K	probably benign	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Tnrc18	G	A	5: 142,800,895 (GRCm39)	S21F	probably damaging	Het
Tns4	T	C	11: 98,966,401 (GRCm39)	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948 (GRCm39)	Y472F	probably damaging	Het
Trak2	A	T	1: 58,958,014 (GRCm39)		probably null	Het
Trim33	T	A	3: 103,244,760 (GRCm39)	Y716N	probably damaging	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Ube2j2	A	G	4: 156,033,483 (GRCm39)	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889 (GRCm39)	I206T	possibly damaging	Het
Usp40	A	G	1: 87,909,778 (GRCm39)	F559L	probably benign	Het
Utp4	T	A	8: 107,638,982 (GRCm39)		probably null	Het
Vac14	A	G	8: 111,409,166 (GRCm39)	N524S	probably benign	Het
Vps13c	T	C	9: 67,801,334 (GRCm39)	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,317,231 (GRCm39)	R28*	probably null	Het
Zfp106	T	C	2: 120,357,329 (GRCm39)	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511 (GRCm39)	Q205*	probably null	Het

Other mutations in Evpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGACCTATGGCGTCTCTTGC -3'
(R):5'- TCTCTGTTAGCTGCAAGGCTC -3'

Sequencing Primer
(F):5'- CTTTTAATCCTTGGCCTCATGAATAC -3'
(R):5'- TCGGGCCTTCAGGTCTGTC -3'

Posted On

2014-06-30