Mutagenetix > Incidental Mutation

Incidental Mutation 'R7383:Ppl'

572903

Institutional Source

Beutler Lab

Gene Symbol

Ppl

Ensembl Gene

ENSMUSG00000039457

Gene Name

periplakin

Synonyms

MMRRC Submission

045465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4904155-4950285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4915835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 576 (P576Q)

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: P576Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: P576Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,818,548 (GRCm39)	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,311,653 (GRCm39)	V241G	possibly damaging	Het
BC049715	T	A	6: 136,817,453 (GRCm39)	I231N	probably damaging	Het
Bckdhb	T	G	9: 83,835,766 (GRCm39)	V90G	possibly damaging	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,452,776 (GRCm39)	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,364,148 (GRCm39)	V305E	probably damaging	Het
Clasrp	C	A	7: 19,319,198 (GRCm39)	R489L	unknown	Het
Col24a1	A	G	3: 145,004,599 (GRCm39)	I26V	probably benign	Het
Cort	C	T	4: 149,209,861 (GRCm39)	A64T	possibly damaging	Het
Dmkn	T	A	7: 30,464,793 (GRCm39)	N255K	unknown	Het
Dph2	A	T	4: 117,748,566 (GRCm39)	L69Q	probably damaging	Het
Fbxo11	A	G	17: 88,310,282 (GRCm39)	I432T		Het
Fgd3	T	C	13: 49,421,785 (GRCm39)	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,964,099 (GRCm39)	K111E	probably benign	Het
Gdf6	T	A	4: 9,859,537 (GRCm39)	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,600,354 (GRCm39)	L429Q	probably damaging	Het
Hk2	A	G	6: 82,726,276 (GRCm39)	F90S	probably damaging	Het
Hrnr	A	T	3: 93,239,098 (GRCm39)	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,297,917 (GRCm39)	K402T	probably benign	Het
Htr1f	T	C	16: 64,747,206 (GRCm39)	T29A	probably benign	Het
Ikbkb	C	A	8: 23,159,066 (GRCm39)	A471S	probably benign	Het
Inpp5f	A	G	7: 128,296,310 (GRCm39)	D887G	probably damaging	Het
Ipo9	A	G	1: 135,316,411 (GRCm39)	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,025,537 (GRCm39)	N118I	probably benign	Het
Kif26b	T	G	1: 178,358,275 (GRCm39)	C129G	probably damaging	Het
Mga	G	A	2: 119,790,821 (GRCm39)	A2236T	probably damaging	Het
Micu2	T	C	14: 58,154,810 (GRCm39)	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,204,577 (GRCm39)	V59D	probably damaging	Het
Nav3	A	G	10: 109,552,532 (GRCm39)	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,392,183 (GRCm39)	I190N	probably damaging	Het
Niban3	A	C	8: 72,056,470 (GRCm39)	E390A	possibly damaging	Het
Npat	T	A	9: 53,474,078 (GRCm39)	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,167,777 (GRCm39)	T1005A	probably benign	Het
Or10ag58	A	G	2: 87,265,721 (GRCm39)	S297G	possibly damaging	Het
Or14c39	A	T	7: 86,343,960 (GRCm39)	I99F	probably damaging	Het
Or1e22	A	G	11: 73,376,715 (GRCm39)	*312Q	probably null	Het
Or2b4	A	G	17: 38,116,972 (GRCm39)	K312R	probably benign	Het
Or2w3	T	C	11: 58,557,011 (GRCm39)	S209P	possibly damaging	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Or8s8	C	G	15: 98,354,578 (GRCm39)	P129R	probably damaging	Het
Pafah1b2	C	T	9: 45,880,147 (GRCm39)	G177R	probably benign	Het
Phc1	A	G	6: 122,300,317 (GRCm39)	S521P	unknown	Het
Plpp2	A	T	10: 79,366,841 (GRCm39)	L25Q	probably null	Het
Plxna4	A	G	6: 32,129,734 (GRCm39)		probably null	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 6,887,899 (GRCm39)	G13S	probably benign	Het
Rhot1	C	G	11: 80,114,760 (GRCm39)	P56R	probably damaging	Het
Sipa1l2	A	G	8: 126,174,385 (GRCm39)	W1298R	probably damaging	Het
Slc16a14	G	A	1: 84,890,292 (GRCm39)	H338Y	probably damaging	Het
Slc8a3	T	G	12: 81,362,579 (GRCm39)	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,003,608 (GRCm39)	Y513*	probably null	Het
Smarcd2	A	G	11: 106,155,602 (GRCm39)	C405R	probably damaging	Het
Szt2	G	A	4: 118,222,411 (GRCm39)	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841 (GRCm39)	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,844,358 (GRCm39)	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,577,892 (GRCm39)	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Togaram2	A	T	17: 72,007,512 (GRCm39)	I354F	probably damaging	Het
Uchl5	T	A	1: 143,659,753 (GRCm39)	S42R	probably benign	Het
Virma	C	A	4: 11,514,026 (GRCm39)	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,240,684 (GRCm39)	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,660,734 (GRCm39)	V382G	probably benign	Het
Wipf3	G	T	6: 54,462,263 (GRCm39)	A158S	probably benign	Het
Ylpm1	T	G	12: 85,091,242 (GRCm39)	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,524,748 (GRCm39)	C191S	probably benign	Het
Zer1	G	A	2: 30,001,253 (GRCm39)	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,305,710 (GRCm39)	V991D	probably benign	Het
Zscan4b	C	A	7: 10,637,960 (GRCm39)	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,745,672 (GRCm39)	S589T	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
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
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
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'- CTGTTCTCGTATGAGGCCAG -3'
(R):5'- ATTGGGCTCCAGATGGACAC -3'

Sequencing Primer
(F):5'- CTGCAGACTGTTCTCCAGG -3'
(R):5'- ACACCCCAGGGAGGTGAG -3'

Posted On

2019-09-13