Mutagenetix > Incidental Mutation

Incidental Mutation 'R5398:Ppl'

429818

Institutional Source

Beutler Lab

Gene Symbol

Ppl

Ensembl Gene

ENSMUSG00000039457

Gene Name

periplakin

Synonyms

MMRRC Submission

042969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4904155-4950285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4922786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 235 (M235T)

Ref Sequence

ENSEMBL: ENSMUSP00000039360 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035672
AA Change: M235T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: M235T

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

Meta Mutation Damage Score

0.3189

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,362,595 (GRCm39)	L34P	possibly damaging	Het
Adam34	A	C	8: 44,104,278 (GRCm39)	C456G	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,365,533 (GRCm39)	D407G	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Chac1	T	G	2: 119,183,725 (GRCm39)	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,232,820 (GRCm39)	D709G	probably benign	Het
Ddx42	T	A	11: 106,115,724 (GRCm39)	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,872 (GRCm39)	K1326E	probably benign	Het
Dnajc3	T	A	14: 119,209,799 (GRCm39)	Y291*	probably null	Het
Dsg2	T	C	18: 20,712,190 (GRCm39)	F109L	probably benign	Het
Egfl8	T	C	17: 34,833,613 (GRCm39)		probably benign	Het
Emb	T	A	13: 117,404,088 (GRCm39)	I280N	probably damaging	Het
Gcc2	C	A	10: 58,105,329 (GRCm39)	N188K	probably benign	Het
Gdpd4	A	T	7: 97,621,185 (GRCm39)	H166L	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Itga11	A	G	9: 62,653,205 (GRCm39)	T360A	probably benign	Het
Kctd1	A	G	18: 15,195,322 (GRCm39)	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,394,401 (GRCm39)	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,688,807 (GRCm39)		noncoding transcript	Het
Ociad1	T	A	5: 73,467,755 (GRCm39)	V231E	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1l4	C	A	2: 37,091,330 (GRCm39)	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,399,207 (GRCm39)	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pcnx2	T	C	8: 126,614,687 (GRCm39)	K255E	possibly damaging	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Prl7d1	T	A	13: 27,894,057 (GRCm39)	I171F	probably damaging	Het
Ptprt	T	C	2: 161,769,512 (GRCm39)	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,424,998 (GRCm39)	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,616,246 (GRCm39)	T11I	probably benign	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Scn9a	T	C	2: 66,318,387 (GRCm39)	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,536,304 (GRCm39)	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,730,936 (GRCm39)	I61N	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spink12	A	G	18: 44,240,794 (GRCm39)	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,761,638 (GRCm39)	I289V	probably benign	Het
Srebf2	A	G	15: 82,055,443 (GRCm39)	T176A	probably damaging	Het
Syce1l	T	C	8: 114,379,145 (GRCm39)	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,378,910 (GRCm39)	I538T	probably benign	Het
Tcte1	C	T	17: 45,850,752 (GRCm39)	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,559,441 (GRCm39)	D177A	probably damaging	Het
Thada	T	G	17: 84,733,614 (GRCm39)	D1011A	probably benign	Het
Tnn	T	A	1: 159,975,092 (GRCm39)	M112L	probably benign	Het
Traf1	T	C	2: 34,835,447 (GRCm39)	E325G	probably damaging	Het
Tyw1	T	C	5: 130,305,998 (GRCm39)		probably benign	Het
Vmn2r111	C	A	17: 22,792,252 (GRCm39)	M1I	probably null	Het
Wdr11	C	T	7: 129,232,956 (GRCm39)	T996M	probably 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
R5286:Ppl	UTSW	16	4,906,987 (GRCm39)	nonsense	probably null
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'- AGCAGTTGGTCACCTTCAG -3'
(R):5'- ATCAGCGACTGATCCAAGGAC -3'

Sequencing Primer
(F):5'- CACCTTCAGTGTGCAGTTTG -3'
(R):5'- ACTGATCCAAGGACCTGGCTG -3'

Posted On

2016-09-06