Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Ppl'

490521

Institutional Source

Beutler Lab

Gene Symbol

Ppl

Ensembl Gene

ENSMUSG00000039457

Gene Name

periplakin

Synonyms

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4904155-4950285 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 4923913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039360 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000035672

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457

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 null
Transcript: ENSMUST00000035672

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457

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 null
Transcript: ENSMUST00000035672

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457

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: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167 (GRCm39)		probably null	Het
4930505A04Rik	T	A	11: 30,376,220 (GRCm39)	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,223,975 (GRCm39)		probably benign	Het
Abcc4	G	T	14: 118,763,702 (GRCm39)	D1044E	probably benign	Het
Adgre4	A	G	17: 56,159,282 (GRCm39)	T656A	probably benign	Het
Ankk1	T	C	9: 49,327,196 (GRCm39)	N661S	probably benign	Het
Asah2	A	G	19: 31,981,082 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,649,142 (GRCm39)	D377G	probably benign	Het
C3ar1	A	G	6: 122,827,381 (GRCm39)	S279P	probably benign	Het
C7	A	G	15: 5,034,717 (GRCm39)	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,442,891 (GRCm39)	A48S	probably benign	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Casc3	A	G	11: 98,712,270 (GRCm39)	Y103C	unknown	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Col14a1	A	G	15: 55,309,182 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,962,512 (GRCm39)	S110P	probably benign	Het
Cpt1b	T	C	15: 89,304,931 (GRCm39)	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cyp2b23	C	T	7: 26,374,431 (GRCm39)	R271H	probably benign	Het
Dnah17	T	C	11: 117,947,723 (GRCm39)	I3039V	probably benign	Het
Dnpep	T	C	1: 75,291,787 (GRCm39)	D242G	probably damaging	Het
Dock10	T	A	1: 80,551,855 (GRCm39)	N660I	probably damaging	Het
Esco2	T	C	14: 66,061,640 (GRCm39)	D471G	probably benign	Het
Evpl	A	T	11: 116,125,258 (GRCm39)	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,389,850 (GRCm39)	I142F	probably damaging	Het
Fry	C	A	5: 150,302,350 (GRCm39)	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,801,472 (GRCm39)	F92I	probably benign	Het
Galm	A	G	17: 80,445,532 (GRCm39)	E94G	probably benign	Het
Gfy	T	G	7: 44,827,004 (GRCm39)	H364P	probably damaging	Het
Helz2	A	G	2: 180,875,821 (GRCm39)	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,598,527 (GRCm39)	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 62,855,170 (GRCm39)		probably null	Het
Igkv4-90	T	A	6: 68,784,453 (GRCm39)	N21I	probably benign	Het
Kpna1	A	G	16: 35,834,598 (GRCm39)		probably benign	Het
Krt28	A	C	11: 99,257,716 (GRCm39)	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,545,936 (GRCm39)	V578A	probably damaging	Het
Lta4h	T	C	10: 93,305,052 (GRCm39)		probably null	Het
Matk	T	A	10: 81,095,963 (GRCm39)	V166E	probably benign	Het
Muc4	C	A	16: 32,570,113 (GRCm39)	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,755,890 (GRCm39)	T220S	possibly damaging	Het
Nrp1	T	C	8: 129,194,858 (GRCm39)	V438A	probably damaging	Het
Or2y6	A	T	11: 52,104,180 (GRCm39)	L212Q	probably damaging	Het
Or6p1	T	A	1: 174,258,348 (GRCm39)	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,785,110 (GRCm39)	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,016,388 (GRCm39)	D911V	probably damaging	Het
Pkd1	A	G	17: 24,788,804 (GRCm39)	Q854R	probably benign	Het
Ppp1r26	A	G	2: 28,341,617 (GRCm39)	T416A	probably benign	Het
Prdm15	T	C	16: 97,609,889 (GRCm39)	D585G	probably damaging	Het
Rbak	A	G	5: 143,159,466 (GRCm39)	V529A	probably benign	Het
Rc3h1	C	T	1: 160,787,071 (GRCm39)	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,763,242 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,901,818 (GRCm39)	N792S	probably benign	Het
Tat	T	C	8: 110,718,581 (GRCm39)		probably null	Het
Tbx21	A	T	11: 97,005,474 (GRCm39)		probably null	Het
Txndc11	A	G	16: 10,893,069 (GRCm39)	L887P	probably damaging	Het
Usp10	A	G	8: 120,673,831 (GRCm39)	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,038,633 (GRCm39)	H736L	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,157,204 (GRCm39)	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,242,020 (GRCm39)	R36*	probably null	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
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'- CGCCATGATTACACTAGAGCATG -3'
(R):5'- CCCATGCTTCCAAGGGTTAG -3'

Sequencing Primer
(F):5'- GATTACACTAGAGCATGCTGTCC -3'
(R):5'- CCAAGGGTTAGGCTGGGTC -3'

Posted On

2017-10-20