Incidental Mutation 'R5440:Pkp1'
ID 428566
Institutional Source Beutler Lab
Gene Symbol Pkp1
Ensembl Gene ENSMUSG00000026413
Gene Name plakophilin 1
Synonyms
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 135799133-135846945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135810230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 447 (C447S)
Ref Sequence ENSEMBL: ENSMUSP00000128418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027667] [ENSMUST00000163260] [ENSMUST00000189805]
AlphaFold P97350
Predicted Effect probably benign
Transcript: ENSMUST00000027667
AA Change: C447S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027667
Gene: ENSMUSG00000026413
AA Change: C447S

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 benign
Transcript: ENSMUST00000163260
AA Change: C447S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128418
Gene: ENSMUSG00000026413
AA Change: C447S

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G 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
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
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'- GCACTTGCATGTTTCAGATGTC -3'
(R):5'- TTCACTGTGCATGCCCACTG -3'

Sequencing Primer
(F):5'- GTCTCTGAGACAAAGTCCACAAG -3'
(R):5'- ACTGCACTCTGCCCGTC -3'
Posted On 2016-09-01