Incidental Mutation 'R1498:Ppl'
ID 169078
Institutional Source Beutler Lab
Gene Symbol Ppl
Ensembl Gene ENSMUSG00000039457
Gene Name periplakin
Synonyms
MMRRC Submission 039549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1498 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4904155-4950285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4922629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 260 (N260S)
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: N260S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: N260S

DomainStartEndE-ValueType
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 0.0590 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (83/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,374,627 (GRCm39) S799P probably benign Het
Acvr1b T C 15: 101,091,891 (GRCm39) F57S probably benign Het
Adamts5 T A 16: 85,696,990 (GRCm39) T56S possibly damaging Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Agr3 A T 12: 35,984,379 (GRCm39) probably null Het
Ankrd6 A G 4: 32,810,289 (GRCm39) M405T probably benign Het
Aoc1l2 A G 6: 48,908,305 (GRCm39) H435R probably benign Het
Aqp5 T C 15: 99,491,128 (GRCm39) I60T probably damaging Het
Arf5 G T 6: 28,426,153 (GRCm39) R180L probably benign Het
Asap3 A G 4: 135,966,505 (GRCm39) N528D probably benign Het
Atmin G A 8: 117,681,540 (GRCm39) E180K probably benign Het
Bcl11a A T 11: 24,114,005 (GRCm39) E449D probably damaging Het
Cep128 A T 12: 91,333,191 (GRCm39) F25I probably benign Het
Cfp GCAC GC X: 20,795,905 (GRCm39) probably null Het
Chpt1 T A 10: 88,312,966 (GRCm39) Y282F possibly damaging Het
Cul7 A G 17: 46,966,636 (GRCm39) D355G probably benign Het
Daxx T C 17: 34,131,227 (GRCm39) Y385H probably damaging Het
Dnah2 A C 11: 69,411,493 (GRCm39) probably null Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Erc2 T A 14: 28,024,855 (GRCm39) M578K probably benign Het
Evc T A 5: 37,481,044 (GRCm39) H267L possibly damaging Het
Exosc10 A C 4: 148,666,243 (GRCm39) Q837P possibly damaging Het
Fasn G A 11: 120,706,245 (GRCm39) T1033I probably damaging Het
Fat1 C A 8: 45,478,521 (GRCm39) Y2522* probably null Het
Fbxw8 G A 5: 118,203,850 (GRCm39) probably benign Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Grm6 G A 11: 50,748,083 (GRCm39) V398M probably damaging Het
Gtpbp1 T A 15: 79,603,222 (GRCm39) probably null Het
Hnf1a A G 5: 115,108,596 (GRCm39) V103A probably damaging Het
Hsp90aa1 A T 12: 110,662,122 (GRCm39) probably null Het
Iqgap2 C T 13: 95,783,313 (GRCm39) V1288I probably benign Het
Irx5 A G 8: 93,086,514 (GRCm39) D199G probably damaging Het
Klrh1 A G 6: 129,748,703 (GRCm39) S105P probably damaging Het
Krt9 G T 11: 100,079,195 (GRCm39) C732* probably null Het
Lifr T C 15: 7,220,099 (GRCm39) S910P probably damaging Het
Lrig1 G A 6: 94,604,968 (GRCm39) A209V possibly damaging Het
Lrrk1 T A 7: 65,952,419 (GRCm39) R506* probably null Het
Lyst T A 13: 13,824,960 (GRCm39) I1525K possibly damaging Het
Mad2l1 C T 6: 66,516,826 (GRCm39) Q173* probably null Het
Mcoln1 T A 8: 3,562,861 (GRCm39) I524N probably damaging Het
Mmp3 A T 9: 7,446,967 (GRCm39) D49V possibly damaging Het
Morc3 A T 16: 93,650,743 (GRCm39) N321I probably damaging Het
Mrpl48 T C 7: 100,195,695 (GRCm39) probably benign Het
Myo6 T A 9: 80,214,961 (GRCm39) D1231E probably damaging Het
Nlrc4 A G 17: 74,753,408 (GRCm39) I325T probably benign Het
Or1j19 A T 2: 36,677,358 (GRCm39) I274F probably damaging Het
Or2ag17 T C 7: 106,389,623 (GRCm39) Y195C possibly damaging Het
Or4f61 A T 2: 111,922,938 (GRCm39) M36K probably benign Het
Or8c16 C G 9: 38,130,676 (GRCm39) P183A probably damaging Het
Or8k32 A G 2: 86,368,902 (GRCm39) V117A probably benign Het
Parvg T A 15: 84,218,832 (GRCm39) S230T possibly damaging Het
Pcca T C 14: 122,854,230 (GRCm39) I118T probably damaging Het
Pde6a A G 18: 61,365,932 (GRCm39) N219S possibly damaging Het
Phldb1 G T 9: 44,612,915 (GRCm39) P935Q possibly damaging Het
Plppr5 T C 3: 117,456,261 (GRCm39) S261P probably damaging Het
Ppp1r3e A T 14: 55,113,882 (GRCm39) H263Q probably benign Het
Ppp3cb T C 14: 20,559,567 (GRCm39) probably null Het
Ppt2 A T 17: 34,842,075 (GRCm39) D185E probably benign Het
Prr27 A T 5: 87,998,600 (GRCm39) probably benign Het
Ptcd3 A T 6: 71,870,479 (GRCm39) V327E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rtp1 A T 16: 23,249,970 (GRCm39) M112L probably benign Het
Slc22a5 A T 11: 53,760,140 (GRCm39) L392Q probably damaging Het
Slc6a7 A G 18: 61,129,764 (GRCm39) I614T probably benign Het
Slu7 C A 11: 43,329,044 (GRCm39) P89T possibly damaging Het
Smarcc2 T C 10: 128,318,061 (GRCm39) V618A probably benign Het
Sorl1 C T 9: 41,952,369 (GRCm39) R729Q probably damaging Het
Sptbn2 T C 19: 4,794,274 (GRCm39) F1493L possibly damaging Het
Sulf1 C T 1: 12,918,574 (GRCm39) T66I probably damaging Het
Tgtp2 A G 11: 48,950,165 (GRCm39) Y136H probably damaging Het
Tmem117 T C 15: 94,536,242 (GRCm39) F92S probably damaging Het
Tmprss9 T A 10: 80,730,934 (GRCm39) V820E probably benign Het
Tpcn2 A G 7: 144,822,648 (GRCm39) Y266H probably damaging Het
Trat1 A G 16: 48,555,304 (GRCm39) S143P probably benign Het
Vmn1r49 T A 6: 90,049,298 (GRCm39) R235W probably damaging Het
Vmn1r71 A T 7: 10,482,575 (GRCm39) C38S probably benign Het
Vmn2r6 T A 3: 64,463,890 (GRCm39) T315S probably damaging Het
Wdr36 A G 18: 32,986,021 (GRCm39) D575G possibly damaging Het
Zfp292 G T 4: 34,805,397 (GRCm39) A2549E possibly damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp648 T A 1: 154,081,119 (GRCm39) I426N probably damaging Het
Zfp87 T C 13: 74,520,736 (GRCm39) N114S probably benign Het
Other mutations in Ppl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCAGGTTCAGGTACTCCTTCCAC -3'
(R):5'- AGCCAAGCCGATTCTGTCTTCAC -3'

Sequencing Primer
(F):5'- ACAGCCTCCATGTGTGCC -3'
(R):5'- TGCACCAATGAGCTGTACTG -3'
Posted On 2014-04-13