Incidental Mutation 'R6528:Ppl'
ID 522127
Institutional Source Beutler Lab
Gene Symbol Ppl
Ensembl Gene ENSMUSG00000039457
Gene Name periplakin
Synonyms
MMRRC Submission 044654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6528 (G1)
Quality Score 217.009
Status Validated
Chromosome 16
Chromosomal Location 4904155-4950285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4905480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1605 (H1605L)
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 benign
Transcript: ENSMUST00000035672
AA Change: H1605L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: H1605L

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 probably benign
Transcript: ENSMUST00000052449
SMART Domains Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473

DomainStartEndE-ValueType
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: ENSMUST00000229355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229386
Predicted Effect probably benign
Transcript: ENSMUST00000230703
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,596 (GRCm39) R286H possibly damaging Het
Arhgap29 T A 3: 121,808,351 (GRCm39) N1176K probably benign Het
Cacfd1 T G 2: 26,908,951 (GRCm39) D97E probably benign Het
Ccnj C A 19: 40,820,529 (GRCm39) probably null Het
Chad A G 11: 94,456,450 (GRCm39) Y176C probably damaging Het
Chd5 T C 4: 152,441,133 (GRCm39) L191P probably damaging Het
Cmtm1 T C 8: 105,035,927 (GRCm39) D190G possibly damaging Het
Cyp3a16 C T 5: 145,377,241 (GRCm39) A449T probably damaging Het
Eml5 T C 12: 98,790,896 (GRCm39) E1334G probably benign Het
Endou C T 15: 97,617,510 (GRCm39) E147K probably damaging Het
Fbxo21 C A 5: 118,138,421 (GRCm39) H449N probably benign Het
Fkbp15 A G 4: 62,250,507 (GRCm39) I363T probably damaging Het
Gm12887 C A 4: 121,472,834 (GRCm39) G103C probably damaging Het
Gm14410 T A 2: 176,885,301 (GRCm39) H321L probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Irgm2 C T 11: 58,110,878 (GRCm39) P202S probably benign Het
Khsrp G A 17: 57,330,543 (GRCm39) T551I probably damaging Het
Lpin2 T A 17: 71,551,000 (GRCm39) I720N probably damaging Het
Lypd8 G A 11: 58,275,439 (GRCm39) G58E probably damaging Het
Mdn1 G T 4: 32,713,780 (GRCm39) L1952F probably damaging Het
Med13 G A 11: 86,189,780 (GRCm39) P1043L probably damaging Het
Mycbp2 T C 14: 103,380,317 (GRCm39) T3832A probably damaging Het
Nrxn3 C T 12: 89,479,819 (GRCm39) R654C probably damaging Het
Or10a3m T C 7: 108,312,638 (GRCm39) L14P probably damaging Het
Or12j3 G T 7: 139,953,354 (GRCm39) H56Q possibly damaging Het
Or13a22 A G 7: 140,072,964 (GRCm39) M138V probably damaging Het
Or8k35 T C 2: 86,424,809 (GRCm39) D121G probably damaging Het
Pcdhb6 A G 18: 37,467,556 (GRCm39) D159G probably damaging Het
Plec T C 15: 76,058,630 (GRCm39) E3759G probably damaging Het
Plekho1 C T 3: 95,896,633 (GRCm39) D236N probably damaging Het
Pnma1 T A 12: 84,194,197 (GRCm39) I169F probably benign Het
Ppp2r2b T A 18: 42,821,403 (GRCm39) M252L probably benign Het
Pramel29 A G 4: 143,935,381 (GRCm39) V120A probably damaging Het
Prickle4 T A 17: 48,000,258 (GRCm39) R246* probably null Het
Rad50 G A 11: 53,543,109 (GRCm39) T1235I probably damaging Het
Ranbp10 T C 8: 106,506,588 (GRCm39) N244S probably damaging Het
Robo4 T C 9: 37,315,664 (GRCm39) S306P possibly damaging Het
Shox2 C A 3: 66,888,618 (GRCm39) R91L probably benign Het
Tbx5 A G 5: 120,021,176 (GRCm39) E394G probably damaging Het
Tcl1b5 A G 12: 105,145,258 (GRCm39) N74S probably benign Het
Tgif1 G A 17: 71,153,555 (GRCm39) probably benign Het
Tmem128 T A 5: 38,423,843 (GRCm39) probably null Het
Trio A G 15: 27,805,956 (GRCm39) S511P probably damaging Het
Trps1 A G 15: 50,685,823 (GRCm39) I114T probably benign Het
Ttll8 G T 15: 88,798,441 (GRCm39) Q765K probably benign Het
Usp17ld A T 7: 102,899,962 (GRCm39) D323E probably damaging Het
Vmn1r232 G A 17: 21,134,309 (GRCm39) T97I probably benign Het
Vmn2r28 T A 7: 5,493,684 (GRCm39) R87S probably benign Het
Vps26b C G 9: 26,921,762 (GRCm39) E254D probably benign Het
Vps8 C A 16: 21,372,875 (GRCm39) Y113* probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xcr1 A T 9: 123,685,048 (GRCm39) I238N probably damaging Het
Zar1l T A 5: 150,430,595 (GRCm39) E272V probably damaging Het
Zfp451 A G 1: 33,816,862 (GRCm39) Y146H probably damaging Het
Zfp54 G T 17: 21,653,736 (GRCm39) E77* probably null 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
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
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'- TTTCCAGTCGATAAGCCCAGC -3'
(R):5'- AGAAGCCAAGTTATCTGAGCTAG -3'

Sequencing Primer
(F):5'- ATAAGCCCAGCCCGGTGAG -3'
(R):5'- GCCAAGTTATCTGAGCTAGAATTC -3'
Posted On 2018-06-06