Incidental Mutation 'R5908:Pkp1'
ID 460759
Institutional Source Beutler Lab
Gene Symbol Pkp1
Ensembl Gene ENSMUSG00000026413
Gene Name plakophilin 1
Synonyms
MMRRC Submission 044105-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R5908 (G1)
Quality Score 193
Status Validated
Chromosome 1
Chromosomal Location 135799133-135846945 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 135846621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 44 (Q44*)
Ref Sequence ENSEMBL: ENSMUSP00000140883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027667] [ENSMUST00000163260] [ENSMUST00000189805]
AlphaFold P97350
Predicted Effect probably null
Transcript: ENSMUST00000027667
AA Change: Q44*
SMART Domains Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: Q44*

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 null
Transcript: ENSMUST00000163260
AA Change: Q44*
SMART Domains Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: Q44*

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 null
Transcript: ENSMUST00000189805
AA Change: Q44*
SMART Domains Protein: ENSMUSP00000140883
Gene: ENSMUSG00000026413
AA Change: Q44*

DomainStartEndE-ValueType
low complexity region 52 60 N/A INTRINSIC
Meta Mutation Damage Score 0.9719 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.8%
Validation Efficiency 97% (69/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,624,730 (GRCm39) L198H probably damaging Het
Anks1 C T 17: 28,214,993 (GRCm39) T480I probably damaging Het
Arhgef18 G A 8: 3,503,165 (GRCm39) R857Q probably damaging Het
B230208B08Rik A G 4: 78,132,297 (GRCm39) noncoding transcript Het
B9d2 T A 7: 25,382,724 (GRCm39) W33R probably damaging Het
Bcl2a1c A G 9: 114,159,572 (GRCm39) T117A probably benign Het
Btbd8 T G 5: 107,655,460 (GRCm39) D574E probably damaging Het
Cabin1 A G 10: 75,557,366 (GRCm39) S1091P probably damaging Het
Clip3 C A 7: 29,996,298 (GRCm39) D64E probably damaging Het
Col6a5 C G 9: 105,740,000 (GRCm39) D2540H possibly damaging Het
Commd5 A T 15: 76,785,136 (GRCm39) M178L probably benign Het
Crtc3 T A 7: 80,245,542 (GRCm39) H361L possibly damaging Het
Dip2b T A 15: 100,049,065 (GRCm39) L153Q possibly damaging Het
Eif2s1 T A 12: 78,926,817 (GRCm39) V189D probably damaging Het
Etl4 C T 2: 20,748,718 (GRCm39) A483V probably damaging Het
Foxo3 T C 10: 42,072,583 (GRCm39) I645V probably benign Het
Gm4841 A G 18: 60,403,506 (GRCm39) S196P possibly damaging Het
Hip1 A G 5: 135,453,717 (GRCm39) probably null Het
Il36rn G T 2: 24,167,502 (GRCm39) probably benign Het
Ints2 A G 11: 86,106,371 (GRCm39) probably null Het
Khnyn A G 14: 56,124,523 (GRCm39) D259G probably benign Het
Lyst T A 13: 13,871,346 (GRCm39) Y2694* probably null Het
Map4k2 T C 19: 6,401,346 (GRCm39) probably benign Het
Marchf10 C T 11: 105,281,065 (GRCm39) V407I probably benign Het
Mast4 C A 13: 102,874,764 (GRCm39) V1367F probably damaging Het
Mrgprb3 A T 7: 48,293,366 (GRCm39) S62T probably damaging Het
Mthfd1l T C 10: 4,039,392 (GRCm39) F801S probably damaging Het
Nhsl3 A G 4: 129,115,941 (GRCm39) S908P probably damaging Het
Notch2 T C 3: 98,031,239 (GRCm39) probably benign Het
Nr2e1 T C 10: 42,448,765 (GRCm39) S158G probably benign Het
Nup214 A G 2: 31,881,353 (GRCm39) I404V probably benign Het
Or13n4 T C 7: 106,423,404 (GRCm39) T110A probably benign Het
Pik3c2g G A 6: 139,714,436 (GRCm39) R196H Het
Pik3r3 A T 4: 116,129,955 (GRCm39) D213V probably benign Het
Pip5k1b A T 19: 24,374,501 (GRCm39) S27T possibly damaging Het
Pnma8b C T 7: 16,680,968 (GRCm39) R651C unknown Het
Pnpt1 T A 11: 29,080,887 (GRCm39) S44T probably benign Het
Polb A T 8: 23,132,319 (GRCm39) probably null Het
Pom121l2 A G 13: 22,165,984 (GRCm39) N85S probably damaging Het
Prim1 A G 10: 127,853,893 (GRCm39) K104E probably damaging Het
Prl8a1 T A 13: 27,758,040 (GRCm39) Y223F probably benign Het
Rbak T G 5: 143,159,391 (GRCm39) H554P probably damaging Het
Serpina3c T C 12: 104,117,970 (GRCm39) R123G probably benign Het
Sh3bp4 T G 1: 89,073,605 (GRCm39) S818A probably damaging Het
Sh3rf3 C G 10: 58,885,270 (GRCm39) H384Q probably benign Het
Slc9a8 C T 2: 167,293,090 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,103,678 (GRCm39) E1181G probably benign Het
Taf2 G A 15: 54,935,402 (GRCm39) probably benign Het
Taf7l2 A T 10: 115,949,133 (GRCm39) I131N probably benign Het
Tbc1d9 A T 8: 83,976,174 (GRCm39) M578L probably benign Het
Tinagl1 G T 4: 130,066,763 (GRCm39) Y111* probably null Het
Tor2a T C 2: 32,651,697 (GRCm39) L304P probably damaging Het
Trp53bp1 A G 2: 121,067,304 (GRCm39) V474A probably benign Het
Trrap C A 5: 144,723,518 (GRCm39) A325E probably damaging Het
Ube4a A G 9: 44,859,322 (GRCm39) probably null Het
Use1 G C 8: 71,822,257 (GRCm39) K239N probably damaging Het
Vps9d1 G T 8: 123,973,563 (GRCm39) Q407K probably benign Het
Zfp36l1 A T 12: 80,156,449 (GRCm39) S311T possibly damaging Het
Zfp729b T C 13: 67,739,374 (GRCm39) K964E probably benign Het
Zfp974 T A 7: 27,610,382 (GRCm39) M448L probably benign Het
Zfyve28 A T 5: 34,374,214 (GRCm39) V600E possibly damaging 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
R4885:Pkp1 UTSW 1 135,846,690 (GRCm39) missense possibly damaging 0.92
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
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'- ATATCCTGTCTGACGGAGGG -3'

Sequencing Primer
(F):5'- GGCTGACATTCAGTCCCC -3'
(R):5'- AGCGCTCTATGGCCAAAG -3'
Posted On 2017-02-28