Incidental Mutation 'IGL00943:Pkp1'
ID26674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkp1
Ensembl Gene ENSMUSG00000026413
Gene Nameplakophilin 1
Synonyms
Accession Numbers

NCBI RefSeq: NM_019645.2; MGI: 1328359

Is this an essential gene? Possibly non essential (E-score: 0.429) question?
Stock #IGL00943
Quality Score
Status
Chromosome1
Chromosomal Location135871395-135919207 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 135878184 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 592 (V592E)
Ref Sequence ENSEMBL: ENSMUSP00000128418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027667] [ENSMUST00000163260] [ENSMUST00000189805]
Predicted Effect probably damaging
Transcript: ENSMUST00000027667
AA Change: V592E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: V592E

DomainStartEndE-ValueType
low complexity region 52 60 N/A INTRINSIC
ARM 277 317 2.65e-9 SMART
ARM 319 360 3.47e-4 SMART
ARM 361 416 1.3e1 SMART
ARM 417 464 5.59e1 SMART
ARM 516 557 8.48e1 SMART
ARM 565 604 3.85e0 SMART
ARM 605 650 5.76e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132793
Predicted Effect probably damaging
Transcript: ENSMUST00000163260
AA Change: V592E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: V592E

DomainStartEndE-ValueType
low complexity region 52 60 N/A INTRINSIC
ARM 277 317 2.65e-9 SMART
ARM 319 360 3.47e-4 SMART
ARM 361 416 1.3e1 SMART
ARM 417 464 5.59e1 SMART
ARM 516 557 8.48e1 SMART
ARM 565 604 3.85e0 SMART
ARM 605 650 5.76e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189805
SMART Domains Protein: ENSMUSP00000140883
Gene: ENSMUSG00000026413

DomainStartEndE-ValueType
low complexity region 52 60 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,790,812 Y372C probably damaging Het
Carmil1 C T 13: 24,111,886 V382M possibly damaging Het
Chkb A T 15: 89,428,748 V138E probably damaging Het
Col7a1 G T 9: 108,977,697 G2434* probably null Het
Cpa3 A G 3: 20,228,815 V156A possibly damaging Het
Dicer1 A C 12: 104,696,772 S1517A possibly damaging Het
Dnajc14 T G 10: 128,816,806 S578A possibly damaging Het
Dse A G 10: 34,162,805 Y201H probably damaging Het
Fam114a2 A T 11: 57,514,273 M1K probably null Het
Gm4847 A T 1: 166,642,353 S50R probably benign Het
Gpr156 A G 16: 37,988,576 Y220C probably damaging Het
Grxcr1 T C 5: 68,032,295 probably benign Het
Hspg2 T C 4: 137,562,201 V3824A probably benign Het
Ino80b A T 6: 83,124,148 L116Q probably damaging Het
Inpp5e A G 2: 26,400,151 probably benign Het
Lrrc8e T C 8: 4,235,658 C628R probably damaging Het
Maml1 A G 11: 50,258,714 V733A probably damaging Het
Mcm9 A G 10: 53,548,589 L635P probably damaging Het
Myh15 A T 16: 49,165,813 I1549F probably damaging Het
Myo1b T A 1: 51,784,487 I414F probably damaging Het
Nlrc3 T A 16: 3,965,117 I159F possibly damaging Het
Nvl A T 1: 181,101,634 D727E possibly damaging Het
Olfr365 T C 2: 37,202,171 V310A probably benign Het
Pgs1 A G 11: 118,005,540 I348V probably benign Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Slc26a7 T C 4: 14,506,477 D624G probably benign Het
Slc39a6 A G 18: 24,589,745 probably null Het
Sorbs1 T C 19: 40,295,040 probably benign Het
Tnfrsf19 A T 14: 61,024,182 M56K possibly damaging Het
Togaram2 C T 17: 71,725,004 R873C probably damaging Het
Tubgcp6 G A 15: 89,122,397 R141* probably null Het
Vill A G 9: 119,063,312 E337G probably damaging Het
Vmn1r17 A G 6: 57,361,200 L11S possibly damaging Het
Other mutations in Pkp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Pkp1 APN 1 135883914 missense possibly damaging 0.92
IGL02149:Pkp1 APN 1 135886747 missense probably benign 0.00
IGL02582:Pkp1 APN 1 135889926 missense probably damaging 0.99
IGL02655:Pkp1 APN 1 135889773 missense probably benign 0.14
IGL03166:Pkp1 APN 1 135878124 missense probably damaging 1.00
P0008:Pkp1 UTSW 1 135875683 missense probably benign 0.00
R0180:Pkp1 UTSW 1 135886800 missense probably benign 0.00
R0368:Pkp1 UTSW 1 135875683 missense probably benign
R0368:Pkp1 UTSW 1 135886852 missense probably benign 0.00
R0601:Pkp1 UTSW 1 135878182 missense probably damaging 1.00
R0725:Pkp1 UTSW 1 135880740 missense probably benign 0.02
R1414:Pkp1 UTSW 1 135884085 splice site probably benign
R1926:Pkp1 UTSW 1 135877673 missense probably benign
R2082:Pkp1 UTSW 1 135884976 missense possibly damaging 0.48
R2190:Pkp1 UTSW 1 135879971 missense probably benign 0.02
R2249:Pkp1 UTSW 1 135880807 missense probably damaging 1.00
R4457:Pkp1 UTSW 1 135875624 makesense probably null
R4838:Pkp1 UTSW 1 135882588 missense probably damaging 1.00
R4885:Pkp1 UTSW 1 135918952 missense possibly damaging 0.92
R4995:Pkp1 UTSW 1 135880855 missense possibly damaging 0.91
R5436:Pkp1 UTSW 1 135918918 missense probably damaging 1.00
R5440:Pkp1 UTSW 1 135882492 missense probably benign 0.41
R5652:Pkp1 UTSW 1 135882597 critical splice acceptor site probably null
R5898:Pkp1 UTSW 1 135882521 missense probably damaging 1.00
R5908:Pkp1 UTSW 1 135918883 nonsense probably null
R6006:Pkp1 UTSW 1 135877668 splice site probably null
R6013:Pkp1 UTSW 1 135883910 missense probably damaging 1.00
R6218:Pkp1 UTSW 1 135879908 missense probably damaging 0.96
R6232:Pkp1 UTSW 1 135886861 missense probably benign 0.01
R7000:Pkp1 UTSW 1 135889954 missense probably benign 0.41
R7799:Pkp1 UTSW 1 135889957 missense possibly damaging 0.94
R7883:Pkp1 UTSW 1 135884903 critical splice donor site probably null
R7966:Pkp1 UTSW 1 135884903 critical splice donor site probably null
Posted On2013-04-17