Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Ppl'

577257

Institutional Source

Beutler Lab

Gene Symbol

Ppl

Ensembl Gene

ENSMUSG00000039457

Gene Name

periplakin

Synonyms

MMRRC Submission

045521-MU

Accession Numbers

Genbank: NM_008909

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5086291-5132421 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5089068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1121 (D1121G)

Ref Sequence

ENSEMBL: ENSMUSP00000039360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035672] [ENSMUST00000052449] [ENSMUST00000229126] [ENSMUST00000230703]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035672
AA Change: D1121G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: D1121G

Domain	Start	End	E-Value	Type
SPEC	123	211	1.58e0	SMART
SPEC	214	315	3.38e-2	SMART
SPEC	321	483	1.11e-2	SMART
SPEC	503	610	4.96e0	SMART
Blast:SPEC	613	717	5e-59	BLAST
low complexity region	718	729	N/A	INTRINSIC
Blast:SPEC	732	859	2e-60	BLAST
low complexity region	893	908	N/A	INTRINSIC
low complexity region	963	982	N/A	INTRINSIC
internal_repeat_2	984	1004	3.46e-5	PROSPERO
internal_repeat_1	992	1008	8.09e-7	PROSPERO
low complexity region	1011	1020	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
internal_repeat_1	1112	1128	8.09e-7	PROSPERO
coiled coil region	1180	1279	N/A	INTRINSIC
low complexity region	1346	1355	N/A	INTRINSIC
low complexity region	1386	1433	N/A	INTRINSIC
low complexity region	1455	1479	N/A	INTRINSIC
Blast:SPEC	1529	1610	8e-30	BLAST
low complexity region	1612	1630	N/A	INTRINSIC
PLEC	1649	1683	1.34e-5	SMART
PLEC	1698	1733	2.23e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052449

SMART Domains

Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473

Domain	Start	End	E-Value	Type
Pfam:HUN	117	168	1.4e-22	PFAM
low complexity region	181	224	N/A	INTRINSIC
low complexity region	232	238	N/A	INTRINSIC
low complexity region	250	267	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
Pfam:UBN_AB	353	573	2.4e-80	PFAM
low complexity region	792	804	N/A	INTRINSIC
low complexity region	856	882	N/A	INTRINSIC
low complexity region	905	934	N/A	INTRINSIC
low complexity region	970	984	N/A	INTRINSIC
low complexity region	996	1006	N/A	INTRINSIC
low complexity region	1016	1034	N/A	INTRINSIC
low complexity region	1084	1098	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229126

Predicted Effect

probably benign
Transcript: ENSMUST00000230703

Meta Mutation Damage Score

0.3006

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619 (GRCm38)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481 (GRCm38)	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973 (GRCm38)	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012 (GRCm38)	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124 (GRCm38)	T2208A		Het
Ap4s1	T	C	12: 51,738,641 (GRCm38)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500 (GRCm38)	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708 (GRCm38)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 29,058,618 (GRCm38)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,144,291 (GRCm38)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607 (GRCm38)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170 (GRCm38)	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821 (GRCm38)	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672 (GRCm38)	S730R	possibly damaging	Het
Col11a1	A	T	3: 114,193,929 (GRCm38)	E1374D	unknown	Het
Csmd1	A	G	8: 16,158,254 (GRCm38)	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378 (GRCm38)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658 (GRCm38)	T76M	unknown	Het
Ermap	G	A	4: 119,188,710 (GRCm38)	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674 (GRCm38)	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038 (GRCm38)	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167 (GRCm38)	D29G		Het
Ipo8	T	C	6: 148,789,817 (GRCm38)	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856 (GRCm38)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967 (GRCm38)	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031 (GRCm38)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519 (GRCm38)	S3P	unknown	Het
Mei4	A	G	9: 81,890,239 (GRCm38)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972 (GRCm38)	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782 (GRCm38)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268 (GRCm38)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm38)	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940 (GRCm38)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762 (GRCm38)	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272 (GRCm38)	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342 (GRCm38)	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885 (GRCm38)	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065 (GRCm38)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420 (GRCm38)	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,391,679 (GRCm38)	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,447,967 (GRCm38)	D131G	probably benign	Het
Prkra	T	C	2: 76,633,598 (GRCm38)	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210 (GRCm38)	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959 (GRCm38)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,358,501 (GRCm38)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,755,969 (GRCm38)	D778G	probably benign	Het
Rbm46	T	A	3: 82,864,210 (GRCm38)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,670,669 (GRCm38)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500 (GRCm38)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456 (GRCm38)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008 (GRCm38)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247 (GRCm38)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639 (GRCm38)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495 (GRCm38)	H81Q	probably damaging	Het
Soga3	T	C	10: 29,197,003 (GRCm38)	S764P	possibly damaging	Het
Stk16	T	C	1: 75,213,652 (GRCm38)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm38)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164 (GRCm38)	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918 (GRCm38)	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330 (GRCm38)	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909 (GRCm38)		probably null	Het
Trav14-2	A	G	14: 53,641,058 (GRCm38)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342 (GRCm38)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196 (GRCm38)	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618 (GRCm38)	W2157*	probably null	Het

Other mutations in Ppl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ppl	APN	16	5,089,545 (GRCm38)	missense	probably benign	0.41
IGL00484:Ppl	APN	16	5,087,952 (GRCm38)	missense	probably benign	0.13
IGL00654:Ppl	APN	16	5,087,308 (GRCm38)	missense	possibly damaging	0.94
IGL00832:Ppl	APN	16	5,088,975 (GRCm38)	missense	probably damaging	1.00
IGL01104:Ppl	APN	16	5,094,491 (GRCm38)	missense	probably benign	0.01
IGL01327:Ppl	APN	16	5,087,644 (GRCm38)	missense	probably benign	0.19
IGL01644:Ppl	APN	16	5,091,855 (GRCm38)	missense	probably damaging	1.00
IGL01824:Ppl	APN	16	5,087,889 (GRCm38)	missense	probably damaging	1.00
IGL02071:Ppl	APN	16	5,113,072 (GRCm38)	missense	probably benign	0.04
IGL02085:Ppl	APN	16	5,089,816 (GRCm38)	missense	probably benign	0.09
IGL02282:Ppl	APN	16	5,101,458 (GRCm38)	missense	probably damaging	1.00
IGL02635:Ppl	APN	16	5,089,767 (GRCm38)	missense	probably benign	0.01
IGL02649:Ppl	APN	16	5,087,463 (GRCm38)	missense	probably damaging	1.00
IGL02888:Ppl	APN	16	5,100,407 (GRCm38)	missense	possibly damaging	0.89
IGL03305:Ppl	APN	16	5,093,233 (GRCm38)	missense	possibly damaging	0.62
G4846:Ppl	UTSW	16	5,087,206 (GRCm38)	missense	probably damaging	1.00
IGL03097:Ppl	UTSW	16	5,096,726 (GRCm38)	missense	probably damaging	0.98
R0759:Ppl	UTSW	16	5,089,777 (GRCm38)	missense	probably benign	0.00
R0786:Ppl	UTSW	16	5,089,054 (GRCm38)	missense	probably damaging	1.00
R1024:Ppl	UTSW	16	5,100,000 (GRCm38)	missense	probably damaging	1.00
R1498:Ppl	UTSW	16	5,104,765 (GRCm38)	missense	probably benign	0.05
R1544:Ppl	UTSW	16	5,102,597 (GRCm38)	nonsense	probably null
R1597:Ppl	UTSW	16	5,107,574 (GRCm38)	missense	probably benign	0.20
R1863:Ppl	UTSW	16	5,087,980 (GRCm38)	missense	possibly damaging	0.69
R1921:Ppl	UTSW	16	5,106,124 (GRCm38)	missense	possibly damaging	0.80
R2230:Ppl	UTSW	16	5,088,981 (GRCm38)	missense	possibly damaging	0.51
R2275:Ppl	UTSW	16	5,094,552 (GRCm38)	missense	probably benign	0.00
R2355:Ppl	UTSW	16	5,094,497 (GRCm38)	missense	probably benign	0.00
R3410:Ppl	UTSW	16	5,107,517 (GRCm38)	missense	possibly damaging	0.81
R3737:Ppl	UTSW	16	5,106,857 (GRCm38)	missense	probably benign
R3797:Ppl	UTSW	16	5,104,550 (GRCm38)	splice site	probably benign
R3968:Ppl	UTSW	16	5,100,332 (GRCm38)	splice site	probably null
R3970:Ppl	UTSW	16	5,100,332 (GRCm38)	splice site	probably null
R4034:Ppl	UTSW	16	5,106,857 (GRCm38)	missense	probably benign
R4583:Ppl	UTSW	16	5,104,536 (GRCm38)	missense	probably benign	0.02
R4639:Ppl	UTSW	16	5,089,446 (GRCm38)	missense	probably damaging	1.00
R4762:Ppl	UTSW	16	5,088,982 (GRCm38)	missense	probably benign	0.00
R4828:Ppl	UTSW	16	5,104,926 (GRCm38)	missense	probably damaging	1.00
R4869:Ppl	UTSW	16	5,104,889 (GRCm38)	missense	probably damaging	0.99
R4925:Ppl	UTSW	16	5,104,982 (GRCm38)	missense	probably damaging	1.00
R4983:Ppl	UTSW	16	5,088,718 (GRCm38)	missense	possibly damaging	0.75
R4984:Ppl	UTSW	16	5,087,641 (GRCm38)	missense	probably benign
R4997:Ppl	UTSW	16	5,089,371 (GRCm38)	missense	probably damaging	1.00
R5072:Ppl	UTSW	16	5,088,878 (GRCm38)	missense	probably benign	0.01
R5073:Ppl	UTSW	16	5,088,878 (GRCm38)	missense	probably benign	0.01
R5074:Ppl	UTSW	16	5,088,878 (GRCm38)	missense	probably benign	0.01
R5286:Ppl	UTSW	16	5,089,123 (GRCm38)	nonsense	probably null
R5398:Ppl	UTSW	16	5,104,922 (GRCm38)	missense	probably benign	0.00
R5448:Ppl	UTSW	16	5,107,566 (GRCm38)	missense	probably benign
R5664:Ppl	UTSW	16	5,106,055 (GRCm38)	missense	probably benign	0.00
R5873:Ppl	UTSW	16	5,106,049 (GRCm38)	critical splice donor site	probably null
R5918:Ppl	UTSW	16	5,104,901 (GRCm38)	missense	probably benign	0.00
R5951:Ppl	UTSW	16	5,088,628 (GRCm38)	missense	probably benign	0.25
R6038:Ppl	UTSW	16	5,102,581 (GRCm38)	missense	possibly damaging	0.94
R6038:Ppl	UTSW	16	5,102,581 (GRCm38)	missense	possibly damaging	0.94
R6088:Ppl	UTSW	16	5,104,988 (GRCm38)	missense	possibly damaging	0.73
R6149:Ppl	UTSW	16	5,107,596 (GRCm38)	nonsense	probably null
R6358:Ppl	UTSW	16	5,087,929 (GRCm38)	nonsense	probably null
R6379:Ppl	UTSW	16	5,097,691 (GRCm38)	missense	probably benign	0.02
R6468:Ppl	UTSW	16	5,092,441 (GRCm38)	missense	probably damaging	1.00
R6514:Ppl	UTSW	16	5,087,317 (GRCm38)	missense	probably damaging	1.00
R6528:Ppl	UTSW	16	5,087,616 (GRCm38)	missense	probably benign	0.00
R6703:Ppl	UTSW	16	5,089,464 (GRCm38)	missense	probably damaging	0.99
R6721:Ppl	UTSW	16	5,107,469 (GRCm38)	missense	probably damaging	0.97
R6811:Ppl	UTSW	16	5,089,144 (GRCm38)	missense	probably damaging	0.99
R6934:Ppl	UTSW	16	5,094,509 (GRCm38)	missense	probably benign	0.00
R7034:Ppl	UTSW	16	5,087,502 (GRCm38)	missense	probably benign	0.29
R7076:Ppl	UTSW	16	5,100,119 (GRCm38)	missense	probably damaging	1.00
R7300:Ppl	UTSW	16	5,102,371 (GRCm38)	missense	possibly damaging	0.87
R7349:Ppl	UTSW	16	5,104,729 (GRCm38)	missense	probably damaging	0.99
R7359:Ppl	UTSW	16	5,089,341 (GRCm38)	missense	possibly damaging	0.78
R7378:Ppl	UTSW	16	5,112,996 (GRCm38)	missense	possibly damaging	0.91
R7383:Ppl	UTSW	16	5,097,971 (GRCm38)	missense	probably damaging	1.00
R7389:Ppl	UTSW	16	5,106,713 (GRCm38)	splice site	probably null
R7687:Ppl	UTSW	16	5,097,942 (GRCm38)	missense	probably benign	0.00
R7752:Ppl	UTSW	16	5,102,302 (GRCm38)	missense	probably benign	0.09
R7827:Ppl	UTSW	16	5,087,964 (GRCm38)	missense	probably damaging	1.00
R7836:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R7842:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R7896:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R7898:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R7943:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R8122:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R8126:Ppl	UTSW	16	5,088,861 (GRCm38)	missense	probably damaging	1.00
R8284:Ppl	UTSW	16	5,132,337 (GRCm38)	missense	probably damaging	1.00
R8680:Ppl	UTSW	16	5,087,436 (GRCm38)	missense	probably benign	0.01
R8781:Ppl	UTSW	16	5,097,936 (GRCm38)	missense	possibly damaging	0.68
R8835:Ppl	UTSW	16	5,088,990 (GRCm38)	missense	probably damaging	0.99
R8836:Ppl	UTSW	16	5,088,990 (GRCm38)	missense	probably damaging	0.99
R8837:Ppl	UTSW	16	5,088,990 (GRCm38)	missense	probably damaging	0.99
R8866:Ppl	UTSW	16	5,102,347 (GRCm38)	missense	probably benign	0.12
R8894:Ppl	UTSW	16	5,107,342 (GRCm38)	intron	probably benign
R8922:Ppl	UTSW	16	5,105,951 (GRCm38)	missense	probably benign
R8927:Ppl	UTSW	16	5,087,610 (GRCm38)	missense	probably benign	0.19
R8928:Ppl	UTSW	16	5,087,610 (GRCm38)	missense	probably benign	0.19
R9070:Ppl	UTSW	16	5,089,344 (GRCm38)	missense	probably benign	0.00
R9314:Ppl	UTSW	16	5,104,503 (GRCm38)	missense	possibly damaging	0.79
R9642:Ppl	UTSW	16	5,097,738 (GRCm38)	missense	probably benign	0.01
RF009:Ppl	UTSW	16	5,097,931 (GRCm38)	missense	probably benign	0.00
X0054:Ppl	UTSW	16	5,104,902 (GRCm38)	missense	probably benign	0.00
Z1088:Ppl	UTSW	16	5,089,507 (GRCm38)	missense	probably damaging	0.97
Z1176:Ppl	UTSW	16	5,106,778 (GRCm38)	missense	probably damaging	0.99
Z1177:Ppl	UTSW	16	5,097,957 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTTGGCCACTTCACTCTC -3'
(R):5'- TGGTAAAGCTACAGAATGACCC -3'

Sequencing Primer
(F):5'- ACTCTCTGCCTTGGGATCTGG -3'
(R):5'- GAATGACCCCCAACTGGAGG -3'

Posted On

2019-10-07