Incidental Mutation 'IGL02582:Pkp1'
ID299379
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: 0.362) question?
Stock #IGL02582
Quality Score
Status
Chromosome1
Chromosomal Location135871395-135919207 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135889926 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 157 (E157G)
Ref Sequence ENSEMBL: ENSMUSP00000128418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027667] [ENSMUST00000163260] [ENSMUST00000189805]
Predicted Effect probably damaging
Transcript: ENSMUST00000027667
AA Change: E157G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: E157G

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 damaging
Transcript: ENSMUST00000163260
AA Change: E157G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: E157G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,594,745 I92F probably benign Het
Actr3b A G 5: 25,832,413 I208V probably benign Het
Car12 T C 9: 66,713,877 V10A probably benign Het
Ccdc171 C A 4: 83,743,018 R1122S probably damaging Het
Cep97 A G 16: 55,922,176 V136A probably damaging Het
Cilp2 G T 8: 69,881,286 Q1021K probably damaging Het
Col24a1 C A 3: 145,314,486 T206N probably damaging Het
Crebbp A T 16: 4,084,277 I2328K possibly damaging Het
Ctns A G 11: 73,196,652 F16S probably benign Het
Dbf4 T C 5: 8,403,172 K276E probably benign Het
Dnase2b T A 3: 146,589,085 Q118L probably benign Het
Elf1 T C 14: 79,536,379 L10P probably damaging Het
Exosc5 T C 7: 25,665,563 probably null Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fam180a G T 6: 35,313,712 A112E possibly damaging Het
Fam3b A T 16: 97,471,191 Y89* probably null Het
Gcg C T 2: 62,478,578 W77* probably null Het
Gm17472 G A 6: 42,980,898 V34I possibly damaging Het
Klhl23 T A 2: 69,824,238 C151S probably damaging Het
Mdh1b T A 1: 63,719,597 I279F probably benign Het
Mfsd11 T A 11: 116,873,875 I375N probably damaging Het
Mroh2b T A 15: 4,908,515 I206N probably damaging Het
Myo1b T C 1: 51,781,974 E456G possibly damaging Het
Nat8 G A 6: 85,830,801 Q117* probably null Het
Nlrp4g A C 9: 124,349,764 noncoding transcript Het
Nmt1 G T 11: 103,064,799 G468C possibly damaging Het
Nobox G T 6: 43,305,039 Q367K possibly damaging Het
Nusap1 A G 2: 119,648,989 *428W probably null Het
Olfr1261 G A 2: 89,994,312 M306I probably benign Het
Olfr533 T C 7: 140,466,647 F149L probably benign Het
Pbp2 T C 6: 135,310,149 I67V probably benign Het
Pcdhb8 T G 18: 37,355,374 M35R possibly damaging Het
Pomgnt1 C T 4: 116,158,550 L560F probably damaging Het
Prkcz T C 4: 155,271,256 T227A probably damaging Het
Ptprd T A 4: 75,947,124 R1446S probably damaging Het
Ptprq T C 10: 107,643,999 T1137A probably benign Het
Sec22c T C 9: 121,685,564 I153V probably benign Het
Slc30a5 C T 13: 100,812,647 probably null Het
Smcr8 T C 11: 60,778,895 S290P probably benign Het
Stambpl1 T G 19: 34,235,212 L261V probably benign Het
Stk38l T C 6: 146,766,823 probably null Het
Themis T C 10: 28,761,547 F216L probably benign Het
Trmt1l T C 1: 151,433,785 probably benign Het
Usp17lb C A 7: 104,840,730 C330F probably damaging Het
Vmn2r120 A T 17: 57,524,724 L355H probably damaging Het
Zc3h7b T A 15: 81,769,140 C82S probably benign Het
Other mutations in Pkp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Pkp1 APN 1 135878184 missense probably damaging 0.96
IGL02113:Pkp1 APN 1 135883914 missense possibly damaging 0.92
IGL02149:Pkp1 APN 1 135886747 missense probably benign 0.00
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 On2015-04-16