Mutagenetix > Incidental Mutation

Incidental Mutation 'R8883:Evpl'

677122

Institutional Source

Beutler Lab

Gene Symbol

Evpl

Ensembl Gene

ENSMUSG00000034282

Gene Name

envoplakin

Synonyms

210kDa protein

MMRRC Submission

068689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8883 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

116111385-116128903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116121243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 428 (E428G)

Ref Sequence

ENSEMBL: ENSMUSP00000037850 (fasta)

Gene Model

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

AlphaFold

Q9D952

Predicted Effect

probably damaging
Transcript: ENSMUST00000037007
AA Change: E428G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: E428G

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

Meta Mutation Damage Score

0.2039

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,283,168 (GRCm39)	S3197P	probably benign	Het
Arih2	A	G	9: 108,486,992 (GRCm39)	S315P	probably damaging	Het
Atp1b3	A	T	9: 96,246,122 (GRCm39)	L29Q	probably damaging	Het
Bsn	G	A	9: 107,990,227 (GRCm39)	P1842S	probably damaging	Het
Ccnb1ip1	G	C	14: 51,027,359 (GRCm39)	P248A	probably benign	Het
Cep76	T	C	18: 67,766,540 (GRCm39)	Q262R	probably benign	Het
Cox10	T	C	11: 63,884,775 (GRCm39)	E210G	probably damaging	Het
Dcaf1	T	G	9: 106,724,839 (GRCm39)		probably benign	Het
Dgki	A	T	6: 36,993,608 (GRCm39)	D584E	probably damaging	Het
Fbh1	A	G	2: 11,753,922 (GRCm39)	F807L	probably benign	Het
Fbxo11	A	G	17: 88,305,044 (GRCm39)	V533A		Het
Fermt3	G	T	19: 6,980,600 (GRCm39)	D322E	probably damaging	Het
Fsip2	G	T	2: 82,809,524 (GRCm39)	V1948L	possibly damaging	Het
Gata4	T	C	14: 63,442,204 (GRCm39)	D206G	probably benign	Het
Gjd3	A	G	11: 102,691,769 (GRCm39)	V78A	probably damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Hmces	G	A	6: 87,910,396 (GRCm39)	A269T	probably benign	Het
Kalrn	A	T	16: 33,814,025 (GRCm39)	N2434K	probably damaging	Het
Kif1b	A	T	4: 149,361,342 (GRCm39)	S49T	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lap3	C	A	5: 45,669,272 (GRCm39)	H474N	probably benign	Het
Ldlrad1	A	G	4: 107,073,412 (GRCm39)	Y149C	probably damaging	Het
Lsm8	T	C	6: 18,851,747 (GRCm39)	V62A	probably benign	Het
Map3k14	T	G	11: 103,130,278 (GRCm39)	Q213P	probably benign	Het
Mboat2	T	G	12: 25,009,033 (GRCm39)	H478Q		Het
Mepce	C	A	5: 137,784,779 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,636 (GRCm39)	R233H		Het
Muc2	A	G	7: 141,287,469 (GRCm39)	H216R	probably damaging	Het
Ntmt1	G	A	2: 30,712,466 (GRCm39)	A170T	probably benign	Het
Or2ag15	A	G	7: 106,340,274 (GRCm39)	I289T	possibly damaging	Het
Or2d3	A	C	7: 106,490,536 (GRCm39)	M260R	probably damaging	Het
Or5w17	T	A	2: 87,583,838 (GRCm39)	L166F	probably damaging	Het
Or8g19	A	G	9: 39,056,083 (GRCm39)	H229R	probably benign	Het
Pebp4	G	T	14: 70,085,098 (GRCm39)	C52F	probably damaging	Het
Pigm	T	A	1: 172,205,085 (GRCm39)	Y274N	probably damaging	Het
Pik3r6	T	C	11: 68,424,468 (GRCm39)	S358P	probably benign	Het
Plekhd1	T	C	12: 80,767,368 (GRCm39)	I252T	probably benign	Het
Prss3b	G	T	6: 41,009,305 (GRCm39)	Y176*	probably null	Het
Racgap1	A	G	15: 99,526,540 (GRCm39)	V341A	probably benign	Het
Rprd1a	T	C	18: 24,640,260 (GRCm39)	D172G	possibly damaging	Het
Spg11	T	C	2: 121,943,561 (GRCm39)	D197G	probably damaging	Het
Spmap2	T	C	10: 79,412,474 (GRCm39)	D339G	probably benign	Het
Spta1	A	T	1: 174,021,145 (GRCm39)	K574N	possibly damaging	Het
Srrd	A	T	5: 112,487,790 (GRCm39)	F130L	possibly damaging	Het
Stim1	A	T	7: 102,080,257 (GRCm39)	H547L	unknown	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tap1	T	C	17: 34,406,867 (GRCm39)	V5A	unknown	Het
Tent5c	C	A	3: 100,379,707 (GRCm39)	A350S	probably benign	Het
Usp45	G	A	4: 21,825,006 (GRCm39)	G586D	probably damaging	Het
Vps13c	G	T	9: 67,855,479 (GRCm39)	A2515S	probably benign	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfyve28	T	C	5: 34,375,211 (GRCm39)		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
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
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
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'- AAGCAGCTGAACCTGAGGAC -3'
(R):5'- TTCTACTGTAGCCTGGCCTGAG -3'

Sequencing Primer
(F):5'- ACTCCAGTGGGATCGAGG -3'
(R):5'- CTGGCCTGAGCTCCTGTTG -3'

Posted On

2021-08-02