Incidental Mutation 'R5607:Pkp2'
ID 439360
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 043271-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5607 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 16078239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 494 (D494Y)
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408]
AlphaFold Q9CQ73
Predicted Effect probably damaging
Transcript: ENSMUST00000039408
AA Change: D494Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: D494Y

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
Meta Mutation Damage Score 0.1893 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 96% (54/56)
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
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Ajap1 T A 4: 153,516,661 (GRCm39) T227S possibly damaging Het
Ankmy1 A G 1: 92,804,740 (GRCm39) F851S probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Cacna1e T A 1: 154,347,086 (GRCm39) N1027I probably benign Het
Cacng4 A T 11: 107,625,610 (GRCm39) V327E probably damaging Het
Casp1 T C 9: 5,303,143 (GRCm39) V199A probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Ctnna1 A G 18: 35,382,795 (GRCm39) D647G probably benign Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Exoc6 T A 19: 37,566,977 (GRCm39) V258D probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G A 1: 174,437,377 (GRCm39) C1116Y probably damaging Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Mcm6 T C 1: 128,283,326 (GRCm39) T60A probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Mmp14 T C 14: 54,676,869 (GRCm39) Y428H probably damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Myo9a T C 9: 59,771,227 (GRCm39) V933A probably damaging Het
Nepn A T 10: 52,277,233 (GRCm39) D323V probably benign Het
Nrf1 C T 6: 30,126,245 (GRCm39) A150V probably damaging Het
Nxpe5 A G 5: 138,238,033 (GRCm39) T199A probably benign Het
Obscn T G 11: 59,013,674 (GRCm39) K1150Q probably benign Het
Or12j5 A C 7: 140,084,318 (GRCm39) V18G probably benign Het
Or52s1b T C 7: 102,822,056 (GRCm39) T263A probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or7a38 A G 10: 78,752,933 (GRCm39) I86M possibly damaging Het
Or7e170 T A 9: 19,795,272 (GRCm39) M110L probably benign Het
Otop1 G A 5: 38,451,848 (GRCm39) G184S possibly damaging Het
Pop5 G A 5: 115,378,260 (GRCm39) R68Q probably damaging Het
Ppp1r13b T C 12: 111,800,223 (GRCm39) D518G probably benign Het
Preb G T 5: 31,117,307 (GRCm39) probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rag1 G A 2: 101,474,137 (GRCm39) T335I probably damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Sf3a3 A T 4: 124,608,746 (GRCm39) D20V probably damaging Het
Slco1b2 A G 6: 141,631,312 (GRCm39) N649D probably benign Het
Smarcal1 A G 1: 72,625,372 (GRCm39) D173G probably benign Het
Smg7 A G 1: 152,718,985 (GRCm39) L914P probably damaging Het
Tbc1d32 A T 10: 56,005,246 (GRCm39) S796T possibly damaging Het
Tex14 A G 11: 87,413,404 (GRCm39) T1052A probably benign Het
Tspan1 A G 4: 116,021,277 (GRCm39) V109A possibly damaging Het
Ttbk2 A G 2: 120,637,305 (GRCm39) V51A possibly damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Ubr2 G T 17: 47,245,126 (GRCm39) C1633* probably null Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Vmn2r25 T C 6: 123,805,318 (GRCm39) E513G possibly damaging Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S probably 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
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'- ATGTCTCCCTGGACTGATGATAAG -3'
(R):5'- CTGGCTTTAGCAAGTAAGTCAAG -3'

Sequencing Primer
(F):5'- CCTGGACTGATGATAAGCTCTGAC -3'
(R):5'- GCAAGTAAGTCAAGGAACAAAACTAC -3'
Posted On 2016-10-26