Incidental Mutation 'R4885:Pkp1'
ID 375611
Institutional Source Beutler Lab
Gene Symbol Pkp1
Ensembl Gene ENSMUSG00000026413
Gene Name plakophilin 1
Synonyms
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135799133-135846945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135846690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 21 (S21P)
Ref Sequence ENSEMBL: ENSMUSP00000128418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027667] [ENSMUST00000163260] [ENSMUST00000189805]
AlphaFold P97350
Predicted Effect possibly damaging
Transcript: ENSMUST00000027667
AA Change: S21P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: S21P

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 possibly damaging
Transcript: ENSMUST00000163260
AA Change: S21P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: S21P

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 possibly damaging
Transcript: ENSMUST00000189805
AA Change: S21P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140883
Gene: ENSMUSG00000026413
AA Change: S21P

DomainStartEndE-ValueType
low complexity region 52 60 N/A INTRINSIC
Meta Mutation Damage Score 0.1605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign Het
Other mutations in Pkp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Pkp1 APN 1 135,805,922 (GRCm39) missense probably damaging 0.96
IGL02113:Pkp1 APN 1 135,811,652 (GRCm39) missense possibly damaging 0.92
IGL02149:Pkp1 APN 1 135,814,485 (GRCm39) missense probably benign 0.00
IGL02582:Pkp1 APN 1 135,817,664 (GRCm39) missense probably damaging 0.99
IGL02655:Pkp1 APN 1 135,817,511 (GRCm39) missense probably benign 0.14
IGL03166:Pkp1 APN 1 135,805,862 (GRCm39) missense probably damaging 1.00
P0008:Pkp1 UTSW 1 135,803,421 (GRCm39) missense probably benign 0.00
R0180:Pkp1 UTSW 1 135,814,538 (GRCm39) missense probably benign 0.00
R0368:Pkp1 UTSW 1 135,814,590 (GRCm39) missense probably benign 0.00
R0368:Pkp1 UTSW 1 135,803,421 (GRCm39) missense probably benign
R0601:Pkp1 UTSW 1 135,805,920 (GRCm39) missense probably damaging 1.00
R0725:Pkp1 UTSW 1 135,808,478 (GRCm39) missense probably benign 0.02
R1414:Pkp1 UTSW 1 135,811,823 (GRCm39) splice site probably benign
R1926:Pkp1 UTSW 1 135,805,411 (GRCm39) missense probably benign
R2082:Pkp1 UTSW 1 135,812,714 (GRCm39) missense possibly damaging 0.48
R2190:Pkp1 UTSW 1 135,807,709 (GRCm39) missense probably benign 0.02
R2249:Pkp1 UTSW 1 135,808,545 (GRCm39) missense probably damaging 1.00
R4457:Pkp1 UTSW 1 135,803,362 (GRCm39) makesense probably null
R4838:Pkp1 UTSW 1 135,810,326 (GRCm39) missense probably damaging 1.00
R4995:Pkp1 UTSW 1 135,808,593 (GRCm39) missense possibly damaging 0.91
R5436:Pkp1 UTSW 1 135,846,656 (GRCm39) missense probably damaging 1.00
R5440:Pkp1 UTSW 1 135,810,230 (GRCm39) missense probably benign 0.41
R5652:Pkp1 UTSW 1 135,810,335 (GRCm39) critical splice acceptor site probably null
R5898:Pkp1 UTSW 1 135,810,259 (GRCm39) missense probably damaging 1.00
R5908:Pkp1 UTSW 1 135,846,621 (GRCm39) nonsense probably null
R6006:Pkp1 UTSW 1 135,805,406 (GRCm39) splice site probably null
R6013:Pkp1 UTSW 1 135,811,648 (GRCm39) missense probably damaging 1.00
R6218:Pkp1 UTSW 1 135,807,646 (GRCm39) missense probably damaging 0.96
R6232:Pkp1 UTSW 1 135,814,599 (GRCm39) missense probably benign 0.01
R7000:Pkp1 UTSW 1 135,817,692 (GRCm39) missense probably benign 0.41
R7799:Pkp1 UTSW 1 135,817,695 (GRCm39) missense possibly damaging 0.94
R7883:Pkp1 UTSW 1 135,812,641 (GRCm39) critical splice donor site probably null
R8486:Pkp1 UTSW 1 135,846,714 (GRCm39) missense probably damaging 1.00
R8822:Pkp1 UTSW 1 135,807,661 (GRCm39) missense probably benign 0.00
R8848:Pkp1 UTSW 1 135,807,652 (GRCm39) missense probably damaging 1.00
R9099:Pkp1 UTSW 1 135,805,429 (GRCm39) missense probably benign
R9498:Pkp1 UTSW 1 135,817,820 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCAAAGCGGGCTGACATTC -3'
(R):5'- GTATATCCTGTCTGACGGAGGG -3'

Sequencing Primer
(F):5'- GGCTGACATTCAGTCCCC -3'
(R):5'- AGCGCTCTATGGCCAAAG -3'
Posted On 2016-03-17