Incidental Mutation 'R0581:Pkp2'
ID 56445
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 038771-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0581 (G1)
Quality Score 198
Status Validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 16087647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408]
AlphaFold Q9CQ73
Predicted Effect probably benign
Transcript: ENSMUST00000039408
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 95% (42/44)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,100,620 (GRCm39) T2761A probably benign Het
Apold1 G A 6: 134,960,776 (GRCm39) V77I probably benign Het
Atad2 T C 15: 57,990,060 (GRCm39) T139A probably benign Het
Cacna1a A T 8: 85,328,565 (GRCm39) I1668F possibly damaging Het
Ccer2 T A 7: 28,456,451 (GRCm39) probably benign Het
Cyp2c54 T A 19: 40,035,999 (GRCm39) T304S probably benign Het
Dpp4 T A 2: 62,187,020 (GRCm39) M497L probably benign Het
Evpl T A 11: 116,120,316 (GRCm39) I541L probably benign Het
Ggn A G 7: 28,871,729 (GRCm39) T370A probably benign Het
Ghr A G 15: 3,418,116 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gpr68 G C 12: 100,844,815 (GRCm39) P243R probably damaging Het
Gtf3c2 G T 5: 31,316,862 (GRCm39) Y720* probably null Het
Il2rb T A 15: 78,366,136 (GRCm39) Y387F possibly damaging Het
Kcnu1 T A 8: 26,427,529 (GRCm39) V282E probably damaging Het
Krt222 G A 11: 99,127,018 (GRCm39) Q201* probably null Het
Lats1 A G 10: 7,578,705 (GRCm39) T610A possibly damaging Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Myh7 T C 14: 55,222,953 (GRCm39) I751V probably benign Het
Mypn A G 10: 62,998,023 (GRCm39) I429T probably benign Het
Nemf A T 12: 69,369,045 (GRCm39) D723E probably benign Het
Nlrp4b T C 7: 10,448,457 (GRCm39) L220P probably damaging Het
Npr3 T A 15: 11,851,536 (GRCm39) D418V probably damaging Het
Nsd3 A G 8: 26,200,718 (GRCm39) N1270S probably damaging Het
Or1j15 T C 2: 36,458,834 (GRCm39) S75P probably damaging Het
Or2g1 A G 17: 38,106,993 (GRCm39) I219M probably damaging Het
Otogl G A 10: 107,624,901 (GRCm39) T1579I possibly damaging Het
Psd3 T C 8: 68,173,598 (GRCm39) Y301C probably damaging Het
Psmb4 T C 3: 94,793,479 (GRCm39) H134R probably damaging Het
Ralgapb A G 2: 158,334,881 (GRCm39) T1043A probably benign Het
Sec14l5 T A 16: 4,996,349 (GRCm39) probably null Het
Serpina12 T A 12: 103,997,399 (GRCm39) Q374L probably damaging Het
Serpinb10 C T 1: 107,474,692 (GRCm39) R362* probably null Het
Sorcs1 T A 19: 50,241,139 (GRCm39) I416F possibly damaging Het
Sparcl1 T C 5: 104,241,178 (GRCm39) D82G probably damaging Het
Stat6 A T 10: 127,483,985 (GRCm39) Q89L probably damaging Het
Tat A G 8: 110,718,270 (GRCm39) T52A possibly damaging Het
Yipf7 T A 5: 69,678,406 (GRCm39) I128F probably benign Het
Zfp112 T A 7: 23,825,288 (GRCm39) C419S probably damaging Het
Zzef1 A G 11: 72,742,726 (GRCm39) I769V 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
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
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'- AGGCCAAAGCTGCACATGCTC -3'
(R):5'- GTCAACCATAGACACAGTAAGGCTAAGG -3'

Sequencing Primer
(F):5'- GCTGCACATGCTCACTGAC -3'
(R):5'- acaaaacaaaacaaaacaacaacaac -3'
Posted On 2013-07-11