Incidental Mutation 'R0722:Pkp2'
ID 63575
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 038904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0722 (G1)
Quality Score 191
Status Validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16064892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 472 (V472A)
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408] [ENSMUST00000161342]
AlphaFold Q9CQ73
Predicted Effect probably benign
Transcript: ENSMUST00000039408
AA Change: V472A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: V472A

DomainStartEndE-ValueType
low complexity region 258 271 N/A INTRINSIC
ARM 342 382 7.5e-9 SMART
ARM 384 425 5.14e-7 SMART
Blast:ARM 426 481 2e-29 BLAST
ARM 484 530 8.76e-1 SMART
ARM 631 672 2.98e-3 SMART
Blast:ARM 677 718 2e-11 BLAST
Blast:ARM 720 763 5e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161342
SMART Domains Protein: ENSMUSP00000125219
Gene: ENSMUSG00000041957

DomainStartEndE-ValueType
low complexity region 258 271 N/A INTRINSIC
Pfam:Arm 342 382 3.5e-10 PFAM
Pfam:Arm 384 425 4.7e-9 PFAM
Blast:ARM 426 477 5e-27 BLAST
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 97% (63/65)
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 gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T C 11: 80,047,810 (GRCm39) F89L possibly damaging Het
Akr1c13 A G 13: 4,247,931 (GRCm39) probably null Het
Atp10a A G 7: 58,465,931 (GRCm39) I1053V possibly damaging Het
Bmper G T 9: 23,285,224 (GRCm39) V258L probably benign Het
Brd4 T C 17: 32,431,956 (GRCm39) H636R possibly damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccbe1 C T 18: 66,217,877 (GRCm39) C112Y probably damaging Het
Ccdc28b T A 4: 129,514,945 (GRCm39) probably null Het
Cd320 T C 17: 34,065,004 (GRCm39) S46P possibly damaging Het
Cfap251 T A 5: 123,394,248 (GRCm39) V379E probably damaging Het
Cfap44 G A 16: 44,225,039 (GRCm39) E95K possibly damaging Het
Clpp T C 17: 57,299,901 (GRCm39) V144A probably damaging Het
Crtam A T 9: 40,903,912 (GRCm39) C96S probably damaging Het
Dcst1 C T 3: 89,261,112 (GRCm39) R480H probably benign Het
Dock2 A T 11: 34,414,970 (GRCm39) probably benign Het
Ermard A G 17: 15,242,390 (GRCm39) T189A probably benign Het
Gm10840 A G 11: 106,051,902 (GRCm39) probably benign Het
Gm4845 T A 1: 141,184,598 (GRCm39) noncoding transcript Het
Heatr1 A G 13: 12,420,918 (GRCm39) E403G probably benign Het
Herc4 A G 10: 63,121,844 (GRCm39) I399V probably null Het
Htr1f A G 16: 64,746,254 (GRCm39) I346T probably damaging Het
Igf2r T C 17: 12,934,382 (GRCm39) probably null Het
Jmy G A 13: 93,589,325 (GRCm39) T644I probably benign Het
Kcnn2 T C 18: 45,692,543 (GRCm39) C40R possibly damaging Het
Krt13 T G 11: 100,009,979 (GRCm39) K297T probably damaging Het
Lrba T C 3: 86,513,296 (GRCm39) probably null Het
Lrrc8b T C 5: 105,627,978 (GRCm39) V108A possibly damaging Het
Lrrc8c T A 5: 105,727,414 (GRCm39) V26E probably damaging Het
Or10g6 A G 9: 39,934,295 (GRCm39) D202G probably damaging Het
Or5p6 A G 7: 107,631,541 (GRCm39) F3S probably benign Het
Pcna A G 2: 132,093,155 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,022 (GRCm39) R348* probably null Het
Pikfyve T G 1: 65,292,682 (GRCm39) S1378A probably damaging Het
Pld5 A G 1: 175,803,081 (GRCm39) F395L probably benign Het
Plekhb1 A T 7: 100,294,810 (GRCm39) Y169N probably damaging Het
Polr2c T A 8: 95,589,265 (GRCm39) Y186N probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prr5l A G 2: 101,547,819 (GRCm39) probably benign Het
Ptbp2 C T 3: 119,514,570 (GRCm39) R419Q possibly damaging Het
Ralgapa2 A G 2: 146,230,451 (GRCm39) V1038A probably damaging Het
Rassf2 A G 2: 131,844,830 (GRCm39) V204A probably damaging Het
Slc22a22 T C 15: 57,119,949 (GRCm39) probably null Het
Slit1 T C 19: 41,596,874 (GRCm39) Y1075C probably damaging Het
Smc5 C A 19: 23,186,291 (GRCm39) L1055F probably damaging Het
Spidr A G 16: 15,730,645 (GRCm39) F620S probably damaging Het
Susd1 A G 4: 59,379,749 (GRCm39) S293P possibly damaging Het
Tepsin A G 11: 119,986,163 (GRCm39) probably benign Het
Vmn2r68 A T 7: 84,870,794 (GRCm39) L830I possibly damaging Het
Vtn A G 11: 78,391,680 (GRCm39) probably benign Het
Zfp267 C T 3: 36,219,218 (GRCm39) H414Y probably benign Het
Zfp280d T G 9: 72,219,383 (GRCm39) S162A possibly damaging Het
Zfp608 T G 18: 55,033,306 (GRCm39) K409T probably damaging Het
Zfp738 A T 13: 67,819,643 (GRCm39) M116K probably benign Het
Other mutations in Pkp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0014:Pkp2 UTSW 16 16,058,386 (GRCm39) missense probably benign 0.08
R0131:Pkp2 UTSW 16 16,058,577 (GRCm39) splice site probably benign
R0581:Pkp2 UTSW 16 16,087,647 (GRCm39) splice site probably benign
R0882:Pkp2 UTSW 16 16,087,575 (GRCm39) missense probably damaging 1.00
R0942:Pkp2 UTSW 16 16,043,894 (GRCm39) missense probably benign
R1236:Pkp2 UTSW 16 16,043,766 (GRCm39) missense probably benign
R1265:Pkp2 UTSW 16 16,043,168 (GRCm39) missense probably benign 0.00
R1674:Pkp2 UTSW 16 16,058,422 (GRCm39) missense possibly damaging 0.50
R1687:Pkp2 UTSW 16 16,086,573 (GRCm39) critical splice donor site probably null
R1769:Pkp2 UTSW 16 16,080,561 (GRCm39) missense probably damaging 1.00
R2094:Pkp2 UTSW 16 16,064,831 (GRCm39) missense probably damaging 1.00
R4360:Pkp2 UTSW 16 16,086,546 (GRCm39) missense probably benign 0.03
R4739:Pkp2 UTSW 16 16,048,588 (GRCm39) missense probably damaging 0.99
R5162:Pkp2 UTSW 16 16,078,200 (GRCm39) missense probably damaging 1.00
R5607:Pkp2 UTSW 16 16,078,239 (GRCm39) missense probably damaging 0.98
R6334:Pkp2 UTSW 16 16,043,933 (GRCm39) missense probably damaging 0.99
R6918:Pkp2 UTSW 16 16,090,082 (GRCm39) missense probably damaging 1.00
R7274:Pkp2 UTSW 16 16,064,793 (GRCm39) missense possibly damaging 0.92
R7408:Pkp2 UTSW 16 16,079,537 (GRCm39) missense possibly damaging 0.50
R7698:Pkp2 UTSW 16 16,058,523 (GRCm39) missense probably benign 0.01
R7788:Pkp2 UTSW 16 16,043,272 (GRCm39) missense probably benign 0.01
R8030:Pkp2 UTSW 16 16,064,774 (GRCm39) missense probably benign
R8056:Pkp2 UTSW 16 16,031,264 (GRCm39) missense probably benign 0.28
R8161:Pkp2 UTSW 16 16,031,313 (GRCm39) missense probably damaging 0.99
R8253:Pkp2 UTSW 16 16,086,406 (GRCm39) missense probably damaging 1.00
R8681:Pkp2 UTSW 16 16,048,545 (GRCm39) missense probably benign
R9259:Pkp2 UTSW 16 16,043,714 (GRCm39) missense probably damaging 1.00
R9570:Pkp2 UTSW 16 16,078,278 (GRCm39) missense possibly damaging 0.71
R9720:Pkp2 UTSW 16 16,087,584 (GRCm39) missense probably benign 0.18
Z1176:Pkp2 UTSW 16 16,048,564 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGCACCAAACAGGTTTCCGC -3'
(R):5'- GCCATCAGTTTCTACCCAAGCAGAG -3'

Sequencing Primer
(F):5'- ACCTGTTCACAGTCTTGAAGTTG -3'
(R):5'- GCAGAGTCCAACAAAACTAAATTGTG -3'
Posted On 2013-07-30