Incidental Mutation 'R6918:Pkp2'
ID 539462
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 045005-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6918 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16090082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 790 (Y790C)
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408]
AlphaFold Q9CQ73
Predicted Effect probably damaging
Transcript: ENSMUST00000039408
AA Change: Y790C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: Y790C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A C 17: 24,627,632 (GRCm39) K1359Q probably damaging Het
Ace T C 11: 105,863,769 (GRCm39) Y406H probably damaging Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Alms1 T A 6: 85,599,643 (GRCm39) Y1959N possibly damaging Het
Chrna7 T A 7: 62,809,299 (GRCm39) I76F probably benign Het
Cuedc1 C T 11: 88,077,899 (GRCm39) T296I probably benign Het
Ddc A G 11: 11,769,307 (GRCm39) V409A probably damaging Het
Dhx8 T A 11: 101,629,247 (GRCm39) Y212* probably null Het
Dnah6 T A 6: 73,158,738 (GRCm39) K622* probably null Het
Dscaml1 A G 9: 45,341,805 (GRCm39) H72R probably benign Het
Dyrk1b A G 7: 27,885,350 (GRCm39) D396G probably damaging Het
Gstm2 A G 3: 107,892,557 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,425 (GRCm39) Y189H probably damaging Het
Kif1c G A 11: 70,597,813 (GRCm39) E356K probably damaging Het
Kirrel2 A C 7: 30,150,239 (GRCm39) C17G probably damaging Het
Klhl12 A G 1: 134,403,584 (GRCm39) H259R possibly damaging Het
Krt1 A G 15: 101,758,612 (GRCm39) V184A probably damaging Het
Lmod2 A T 6: 24,603,594 (GRCm39) N190Y probably benign Het
Lrp2 A C 2: 69,319,649 (GRCm39) V1958G probably damaging Het
Ly6h T C 15: 75,437,507 (GRCm39) S37G probably damaging Het
Man2a2 A T 7: 80,002,940 (GRCm39) H1056Q possibly damaging Het
Misp3 T G 8: 84,738,313 (GRCm39) M1L probably benign Het
Mixl1 T A 1: 180,522,243 (GRCm39) I213F probably benign Het
Morc3 T C 16: 93,650,023 (GRCm39) I268T probably benign Het
Mtx2 C T 2: 74,706,697 (GRCm39) T224I probably damaging Het
Or8c15 G A 9: 38,120,948 (GRCm39) V198M possibly damaging Het
Oscp1 A C 4: 125,970,571 (GRCm39) D120A possibly damaging Het
Parp1 G A 1: 180,416,235 (GRCm39) V545I possibly damaging Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pomt1 T A 2: 32,142,873 (GRCm39) probably null Het
Pp2d1 G A 17: 53,822,487 (GRCm39) T193M probably damaging Het
Prkra G T 2: 76,460,797 (GRCm39) H300Q probably damaging Het
Ror2 T G 13: 53,265,487 (GRCm39) N523T probably damaging Het
Rp1 A T 1: 4,069,831 (GRCm39) D1355E unknown Het
Rsph4a T C 10: 33,781,272 (GRCm39) Y41H probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Taar7e T A 10: 23,913,513 (GRCm39) M1K probably null Het
Tex15 T G 8: 34,063,212 (GRCm39) L1155V probably benign Het
Tmprss3 T C 17: 31,407,331 (GRCm39) K321E probably benign Het
Trappc14 A G 5: 138,258,926 (GRCm39) V211A probably benign Het
Tsc2 A T 17: 24,832,203 (GRCm39) C728S probably damaging Het
Ube2e3 A T 2: 78,750,383 (GRCm39) K203M probably damaging Het
Unc50 A T 1: 37,477,783 (GRCm39) T222S probably damaging Het
Vmn1r236 A T 17: 21,507,878 (GRCm39) H332L probably benign Het
Vmn2r7 G A 3: 64,598,760 (GRCm39) T599I probably benign Het
Zfp334 A T 2: 165,223,799 (GRCm39) D81E possibly damaging Het
Zfp710 A G 7: 79,731,788 (GRCm39) I322V possibly damaging 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
R0722:Pkp2 UTSW 16 16,064,892 (GRCm39) missense 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
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'- ACCCTGGCCCTACCTAGAT -3'
(R):5'- ATTCATTTTCTAGATTTGGGGATGAA -3'

Sequencing Primer
(F):5'- ATCAACTGTGTGACCAGCTG -3'
(R):5'- TCTTGGGTCAGTTAGTAGAA -3'
Posted On 2018-11-06