Incidental Mutation 'R4034:Ppl'
ID 313642
Institutional Source Beutler Lab
Gene Symbol Ppl
Ensembl Gene ENSMUSG00000039457
Gene Name periplakin
Synonyms
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4034 (G1)
Quality Score 195
Status Not validated
Chromosome 16
Chromosomal Location 4904155-4950285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4924721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 115 (T115A)
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: T115A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: T115A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging 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
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'- ATGACTCAGGCTGGGTACTG -3'
(R):5'- GCCCTTGAGGAAACAGTAGG -3'

Sequencing Primer
(F):5'- AGCCCCACTGCTCTCAG -3'
(R):5'- CCCTTGAGGAAACAGTAGGGAAGG -3'
Posted On 2015-04-30