Mutagenetix > Incidental Mutation

Incidental Mutation 'R6721:Ppl'

529608

Institutional Source

Beutler Lab

Gene Symbol

Ppl

Ensembl Gene

ENSMUSG00000039457

Gene Name

periplakin

Synonyms

MMRRC Submission

044839-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6721 (G1)

Quality Score

129.008

Status

Validated

Chromosome

Chromosomal Location

4904155-4950285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4925333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 102 (M102K)

Ref Sequence

ENSEMBL: ENSMUSP00000039360 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035672
AA Change: M102K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: M102K

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

noncoding transcript
Transcript: ENSMUST00000230554

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,629,634 (GRCm39)	L3588S	probably benign	Het
Ankrd27	T	C	7: 35,311,976 (GRCm39)	F402S	probably damaging	Het
Aplp1	T	C	7: 30,139,720 (GRCm39)	Q359R	probably null	Het
Arhgef10l	T	C	4: 140,297,655 (GRCm39)	Y546C	probably damaging	Het
Bltp2	T	C	11: 78,170,625 (GRCm39)	Y1615H	probably damaging	Het
Cd46	T	C	1: 194,765,939 (GRCm39)	Y142C	probably damaging	Het
Cfap418	A	G	4: 10,874,744 (GRCm39)	N44D	probably benign	Het
Chd3	T	C	11: 69,260,045 (GRCm39)		probably benign	Het
Cmtm2b	A	G	8: 105,049,077 (GRCm39)	S31G	possibly damaging	Het
CN725425	A	G	15: 91,115,821 (GRCm39)	K21R	possibly damaging	Het
Cngb1	T	C	8: 95,997,516 (GRCm39)	T560A	probably benign	Het
Creb3l3	T	C	10: 80,926,977 (GRCm39)	D151G	probably damaging	Het
Cts7	A	T	13: 61,504,108 (GRCm39)	V124E	probably damaging	Het
Ctsd	G	A	7: 141,930,590 (GRCm39)	P349S	possibly damaging	Het
Ern1	A	G	11: 106,302,478 (GRCm39)	W459R	probably damaging	Het
Faxc	A	T	4: 21,982,672 (GRCm39)		probably null	Het
Gabbr1	T	C	17: 37,365,084 (GRCm39)	I239T	probably damaging	Het
Galnt12	T	A	4: 47,122,529 (GRCm39)	C269*	probably null	Het
Gmpr2	A	T	14: 55,910,191 (GRCm39)	D7V	probably damaging	Het
Hivep3	T	A	4: 119,952,296 (GRCm39)	I204N	possibly damaging	Het
Il16	A	T	7: 83,312,270 (GRCm39)		probably null	Het
Jag1	T	C	2: 136,936,394 (GRCm39)	T367A	probably benign	Het
Lefty2	T	C	1: 180,722,166 (GRCm39)	V168A	probably damaging	Het
Mecom	T	C	3: 30,034,023 (GRCm39)	E227G	probably damaging	Het
Muc5ac	T	A	7: 141,352,729 (GRCm39)	C739S	possibly damaging	Het
Npy1r	T	A	8: 67,156,941 (GRCm39)	C120*	probably null	Het
Nup153	A	G	13: 46,854,502 (GRCm39)	V530A	probably damaging	Het
Ogfr	T	A	2: 180,237,221 (GRCm39)	L602Q	possibly damaging	Het
Or10g7	C	T	9: 39,905,603 (GRCm39)	P166S	possibly damaging	Het
Or10h5	C	T	17: 33,434,508 (GRCm39)	G270E	probably benign	Het
Or7e178	A	C	9: 20,225,576 (GRCm39)	D213E	probably benign	Het
Perm1	G	T	4: 156,302,776 (GRCm39)	R440L	probably benign	Het
Plcb4	T	C	2: 135,752,157 (GRCm39)	V121A	probably benign	Het
Plxna4	C	T	6: 32,177,794 (GRCm39)	V1036M	probably benign	Het
Prop1	T	C	11: 50,844,213 (GRCm39)	S7G	probably benign	Het
Rabggta	A	G	14: 55,954,660 (GRCm39)	L507P	probably damaging	Het
Sfmbt2	A	G	2: 10,547,836 (GRCm39)	T473A	probably damaging	Het
Spc25	A	C	2: 69,027,517 (GRCm39)	M125R	possibly damaging	Het
Taok3	T	C	5: 117,393,928 (GRCm39)	M567T	probably benign	Het
Tlr3	A	G	8: 45,851,917 (GRCm39)	Y327H	probably benign	Het
Tmem209	A	G	6: 30,497,174 (GRCm39)	F339L	probably benign	Het
U2surp	T	C	9: 95,373,157 (GRCm39)	N279S	probably damaging	Het
Ythdf3	G	A	3: 16,258,025 (GRCm39)	M61I	possibly damaging	Het
Zfp647	T	C	15: 76,796,076 (GRCm39)	I195V	probably benign	Het

Other mutations in Ppl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ppl	APN	16	4,907,409 (GRCm39)	missense	probably benign	0.41
IGL00484:Ppl	APN	16	4,905,816 (GRCm39)	missense	probably benign	0.13
IGL00654:Ppl	APN	16	4,905,172 (GRCm39)	missense	possibly damaging	0.94
IGL00832:Ppl	APN	16	4,906,839 (GRCm39)	missense	probably damaging	1.00
IGL01104:Ppl	APN	16	4,912,355 (GRCm39)	missense	probably benign	0.01
IGL01327:Ppl	APN	16	4,905,508 (GRCm39)	missense	probably benign	0.19
IGL01644:Ppl	APN	16	4,909,719 (GRCm39)	missense	probably damaging	1.00
IGL01824:Ppl	APN	16	4,905,753 (GRCm39)	missense	probably damaging	1.00
IGL02071:Ppl	APN	16	4,930,936 (GRCm39)	missense	probably benign	0.04
IGL02085:Ppl	APN	16	4,907,680 (GRCm39)	missense	probably benign	0.09
IGL02282:Ppl	APN	16	4,919,322 (GRCm39)	missense	probably damaging	1.00
IGL02635:Ppl	APN	16	4,907,631 (GRCm39)	missense	probably benign	0.01
IGL02649:Ppl	APN	16	4,905,327 (GRCm39)	missense	probably damaging	1.00
IGL02888:Ppl	APN	16	4,918,271 (GRCm39)	missense	possibly damaging	0.89
IGL03305:Ppl	APN	16	4,911,097 (GRCm39)	missense	possibly damaging	0.62
G4846:Ppl	UTSW	16	4,905,070 (GRCm39)	missense	probably damaging	1.00
IGL03097:Ppl	UTSW	16	4,914,590 (GRCm39)	missense	probably damaging	0.98
R0759:Ppl	UTSW	16	4,907,641 (GRCm39)	missense	probably benign	0.00
R0786:Ppl	UTSW	16	4,906,918 (GRCm39)	missense	probably damaging	1.00
R1024:Ppl	UTSW	16	4,917,864 (GRCm39)	missense	probably damaging	1.00
R1498:Ppl	UTSW	16	4,922,629 (GRCm39)	missense	probably benign	0.05
R1544:Ppl	UTSW	16	4,920,461 (GRCm39)	nonsense	probably null
R1597:Ppl	UTSW	16	4,925,438 (GRCm39)	missense	probably benign	0.20
R1863:Ppl	UTSW	16	4,905,844 (GRCm39)	missense	possibly damaging	0.69
R1921:Ppl	UTSW	16	4,923,988 (GRCm39)	missense	possibly damaging	0.80
R2230:Ppl	UTSW	16	4,906,845 (GRCm39)	missense	possibly damaging	0.51
R2275:Ppl	UTSW	16	4,912,416 (GRCm39)	missense	probably benign	0.00
R2355:Ppl	UTSW	16	4,912,361 (GRCm39)	missense	probably benign	0.00
R3410:Ppl	UTSW	16	4,925,381 (GRCm39)	missense	possibly damaging	0.81
R3737:Ppl	UTSW	16	4,924,721 (GRCm39)	missense	probably benign
R3797:Ppl	UTSW	16	4,922,414 (GRCm39)	splice site	probably benign
R3968:Ppl	UTSW	16	4,918,196 (GRCm39)	splice site	probably null
R3970:Ppl	UTSW	16	4,918,196 (GRCm39)	splice site	probably null
R4034:Ppl	UTSW	16	4,924,721 (GRCm39)	missense	probably benign
R4583:Ppl	UTSW	16	4,922,400 (GRCm39)	missense	probably benign	0.02
R4639:Ppl	UTSW	16	4,907,310 (GRCm39)	missense	probably damaging	1.00
R4762:Ppl	UTSW	16	4,906,846 (GRCm39)	missense	probably benign	0.00
R4828:Ppl	UTSW	16	4,922,790 (GRCm39)	missense	probably damaging	1.00
R4869:Ppl	UTSW	16	4,922,753 (GRCm39)	missense	probably damaging	0.99
R4925:Ppl	UTSW	16	4,922,846 (GRCm39)	missense	probably damaging	1.00
R4983:Ppl	UTSW	16	4,906,582 (GRCm39)	missense	possibly damaging	0.75
R4984:Ppl	UTSW	16	4,905,505 (GRCm39)	missense	probably benign
R4997:Ppl	UTSW	16	4,907,235 (GRCm39)	missense	probably damaging	1.00
R5072:Ppl	UTSW	16	4,906,742 (GRCm39)	missense	probably benign	0.01
R5073:Ppl	UTSW	16	4,906,742 (GRCm39)	missense	probably benign	0.01
R5074:Ppl	UTSW	16	4,906,742 (GRCm39)	missense	probably benign	0.01
R5286:Ppl	UTSW	16	4,906,987 (GRCm39)	nonsense	probably null
R5398:Ppl	UTSW	16	4,922,786 (GRCm39)	missense	probably benign	0.00
R5448:Ppl	UTSW	16	4,925,430 (GRCm39)	missense	probably benign
R5664:Ppl	UTSW	16	4,923,919 (GRCm39)	missense	probably benign	0.00
R5873:Ppl	UTSW	16	4,923,913 (GRCm39)	critical splice donor site	probably null
R5918:Ppl	UTSW	16	4,922,765 (GRCm39)	missense	probably benign	0.00
R5951:Ppl	UTSW	16	4,906,492 (GRCm39)	missense	probably benign	0.25
R6038:Ppl	UTSW	16	4,920,445 (GRCm39)	missense	possibly damaging	0.94
R6038:Ppl	UTSW	16	4,920,445 (GRCm39)	missense	possibly damaging	0.94
R6088:Ppl	UTSW	16	4,922,852 (GRCm39)	missense	possibly damaging	0.73
R6149:Ppl	UTSW	16	4,925,460 (GRCm39)	nonsense	probably null
R6358:Ppl	UTSW	16	4,905,793 (GRCm39)	nonsense	probably null
R6379:Ppl	UTSW	16	4,915,555 (GRCm39)	missense	probably benign	0.02
R6468:Ppl	UTSW	16	4,910,305 (GRCm39)	missense	probably damaging	1.00
R6514:Ppl	UTSW	16	4,905,181 (GRCm39)	missense	probably damaging	1.00
R6528:Ppl	UTSW	16	4,905,480 (GRCm39)	missense	probably benign	0.00
R6703:Ppl	UTSW	16	4,907,328 (GRCm39)	missense	probably damaging	0.99
R6811:Ppl	UTSW	16	4,907,008 (GRCm39)	missense	probably damaging	0.99
R6934:Ppl	UTSW	16	4,912,373 (GRCm39)	missense	probably benign	0.00
R7034:Ppl	UTSW	16	4,905,366 (GRCm39)	missense	probably benign	0.29
R7076:Ppl	UTSW	16	4,917,983 (GRCm39)	missense	probably damaging	1.00
R7300:Ppl	UTSW	16	4,920,235 (GRCm39)	missense	possibly damaging	0.87
R7349:Ppl	UTSW	16	4,922,593 (GRCm39)	missense	probably damaging	0.99
R7359:Ppl	UTSW	16	4,907,205 (GRCm39)	missense	possibly damaging	0.78
R7378:Ppl	UTSW	16	4,930,860 (GRCm39)	missense	possibly damaging	0.91
R7383:Ppl	UTSW	16	4,915,835 (GRCm39)	missense	probably damaging	1.00
R7389:Ppl	UTSW	16	4,924,577 (GRCm39)	splice site	probably null
R7445:Ppl	UTSW	16	4,906,932 (GRCm39)	missense	probably damaging	1.00
R7687:Ppl	UTSW	16	4,915,806 (GRCm39)	missense	probably benign	0.00
R7752:Ppl	UTSW	16	4,920,166 (GRCm39)	missense	probably benign	0.09
R7827:Ppl	UTSW	16	4,905,828 (GRCm39)	missense	probably damaging	1.00
R7836:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R7842:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R7896:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R7898:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R7943:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R8122:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R8126:Ppl	UTSW	16	4,906,725 (GRCm39)	missense	probably damaging	1.00
R8284:Ppl	UTSW	16	4,950,201 (GRCm39)	missense	probably damaging	1.00
R8680:Ppl	UTSW	16	4,905,300 (GRCm39)	missense	probably benign	0.01
R8781:Ppl	UTSW	16	4,915,800 (GRCm39)	missense	possibly damaging	0.68
R8835:Ppl	UTSW	16	4,906,854 (GRCm39)	missense	probably damaging	0.99
R8836:Ppl	UTSW	16	4,906,854 (GRCm39)	missense	probably damaging	0.99
R8837:Ppl	UTSW	16	4,906,854 (GRCm39)	missense	probably damaging	0.99
R8866:Ppl	UTSW	16	4,920,211 (GRCm39)	missense	probably benign	0.12
R8894:Ppl	UTSW	16	4,925,206 (GRCm39)	intron	probably benign
R8922:Ppl	UTSW	16	4,923,815 (GRCm39)	missense	probably benign
R8927:Ppl	UTSW	16	4,905,474 (GRCm39)	missense	probably benign	0.19
R8928:Ppl	UTSW	16	4,905,474 (GRCm39)	missense	probably benign	0.19
R9070:Ppl	UTSW	16	4,907,208 (GRCm39)	missense	probably benign	0.00
R9314:Ppl	UTSW	16	4,922,367 (GRCm39)	missense	possibly damaging	0.79
R9642:Ppl	UTSW	16	4,915,602 (GRCm39)	missense	probably benign	0.01
RF009:Ppl	UTSW	16	4,915,795 (GRCm39)	missense	probably benign	0.00
X0054:Ppl	UTSW	16	4,922,766 (GRCm39)	missense	probably benign	0.00
Z1088:Ppl	UTSW	16	4,907,371 (GRCm39)	missense	probably damaging	0.97
Z1176:Ppl	UTSW	16	4,924,642 (GRCm39)	missense	probably damaging	0.99
Z1177:Ppl	UTSW	16	4,915,821 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAATGGGATTGTCAACTCC -3'
(R):5'- AGGCCCTGTGGTATCACTAC -3'

Sequencing Primer
(F):5'- TGGGATTGTCAACTCCCAAAG -3'
(R):5'- GTGGTATCACTACAGACTTGGAG -3'

Posted On

2018-08-01