Mutagenetix > Incidental Mutation

Incidental Mutation 'R5286:Ppl'

424375

Institutional Source

Beutler Lab

Gene Symbol

Ppl

Ensembl Gene

ENSMUSG00000039457

Gene Name

periplakin

Synonyms

MMRRC Submission

042870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5286 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4904155-4950285 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 4906987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1103 (R1103*)

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 null
Transcript: ENSMUST00000035672
AA Change: R1103*

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: R1103*

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

noncoding transcript
Transcript: ENSMUST00000229386

Predicted Effect

probably benign
Transcript: ENSMUST00000230703

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (64/64)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,358 (GRCm39)	I417V	probably benign	Het
Adad1	T	C	3: 37,119,399 (GRCm39)	V160A	possibly damaging	Het
Adcy7	A	G	8: 89,051,487 (GRCm39)	E869G	probably damaging	Het
Birc6	G	A	17: 74,977,242 (GRCm39)	A4352T	probably damaging	Het
Brd2	T	A	17: 34,334,205 (GRCm39)	T286S	probably damaging	Het
Bsn	G	T	9: 107,988,123 (GRCm39)		probably benign	Het
Cables1	A	G	18: 12,057,884 (GRCm39)	T335A	probably benign	Het
Cacna1d	A	T	14: 30,072,682 (GRCm39)	S98T	possibly damaging	Het
Ccdc181	A	G	1: 164,105,810 (GRCm39)	Y15C	probably damaging	Het
Dlgap4	T	G	2: 156,587,839 (GRCm39)	V39G	probably damaging	Het
Epb41l3	G	A	17: 69,569,268 (GRCm39)	R504H	probably benign	Het
Fbxo7	T	C	10: 85,857,954 (GRCm39)	L23P	probably damaging	Het
Gm42791	A	C	5: 148,887,178 (GRCm39)		probably benign	Het
Gprc5b	A	T	7: 118,582,910 (GRCm39)	F320I	possibly damaging	Het
Gtf3c1	G	A	7: 125,262,580 (GRCm39)	T1093M	possibly damaging	Het
Hddc3	G	T	7: 79,993,543 (GRCm39)	R83L	probably damaging	Het
Iars2	T	C	1: 185,055,318 (GRCm39)		probably benign	Het
Ift25	T	A	4: 107,136,998 (GRCm39)	I132N	probably damaging	Het
Igfn1	T	C	1: 135,895,599 (GRCm39)	K1656E	probably benign	Het
Itk	A	C	11: 46,228,926 (GRCm39)		probably null	Het
Klra6	G	A	6: 129,995,932 (GRCm39)	T142I	probably benign	Het
Knop1	C	T	7: 118,454,993 (GRCm39)	A3T	probably damaging	Het
Lamc3	A	G	2: 31,808,608 (GRCm39)	H788R	probably damaging	Het
Lrif1	A	G	3: 106,639,859 (GRCm39)	R315G	probably damaging	Het
Mfap3l	A	G	8: 61,109,903 (GRCm39)	D93G	probably benign	Het
Ngef	T	C	1: 87,473,552 (GRCm39)	S77G	probably benign	Het
Nt5dc3	T	C	10: 86,640,656 (GRCm39)	S13P	probably benign	Het
Or9s13	T	C	1: 92,548,084 (GRCm39)	V152A	probably benign	Het
Pclo	T	C	5: 14,729,761 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,378,368 (GRCm39)	Q1041*	probably null	Het
Ppp4r3b	T	A	11: 29,161,667 (GRCm39)	D680E	probably benign	Het
Rasgrf2	T	G	13: 92,267,941 (GRCm39)	K21T	possibly damaging	Het
Rev1	T	A	1: 38,094,407 (GRCm39)	K1004*	probably null	Het
Rgs9	T	G	11: 109,130,277 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,693 (GRCm39)	L86P	probably damaging	Het
Rps13	A	G	7: 115,933,155 (GRCm39)	Y18H	probably damaging	Het
Rxfp2	T	C	5: 149,958,909 (GRCm39)	F33S	probably damaging	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Stard9	T	A	2: 120,532,428 (GRCm39)	V2895D	probably benign	Het
Syn3	T	C	10: 86,187,428 (GRCm39)	N232S	possibly damaging	Het
Taok3	T	A	5: 117,404,140 (GRCm39)	Y772N	probably damaging	Het
Tspan4	A	G	7: 141,062,483 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,684,530 (GRCm39)		probably benign	Het
Vwa3b	T	A	1: 37,084,120 (GRCm39)	W98R	probably damaging	Het
Vwa5b2	A	T	16: 20,415,058 (GRCm39)	D360V	probably damaging	Het
Wdr73	A	T	7: 80,541,557 (GRCm39)	D328E	probably benign	Het
Xpo5	A	G	17: 46,545,406 (GRCm39)	N824S	probably benign	Het
Zbtb2	C	T	10: 4,318,566 (GRCm39)	G487S	possibly damaging	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
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
R6721:Ppl	UTSW	16	4,925,333 (GRCm39)	missense	probably damaging	0.97
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'- CCAGGGCCCATATCTTTCTG -3'
(R):5'- GGCTGAAGTGCTACTCTTACAGC -3'

Sequencing Primer
(F):5'- CAGGGCCCATATCTTTCTGAGAAG -3'
(R):5'- ACTCTTACAGCAGCGTGTAG -3'

Posted On

2016-08-04