Incidental Mutation 'R8681:Pkp2'
ID 661773
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 068536-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8681 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16048545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 317 (M317L)
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408]
AlphaFold Q9CQ73
Predicted Effect probably benign
Transcript: ENSMUST00000039408
AA Change: M317L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: M317L

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: 99.2%
  • 20x: 97.0%
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,231,908 (GRCm39) V1347A possibly damaging Het
Adam32 G A 8: 25,327,811 (GRCm39) T750I unknown Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Aebp1 A G 11: 5,817,899 (GRCm39) D438G probably null Het
Anks1b T A 10: 89,885,868 (GRCm39) M188K probably damaging Het
Aopep T C 13: 63,338,373 (GRCm39) F583S probably damaging Het
Arhgef18 A G 8: 3,439,074 (GRCm39) Y477C unknown Het
Cep112 T C 11: 108,316,478 (GRCm39) probably null Het
Clu T C 14: 66,218,406 (GRCm39) V422A probably damaging Het
Cntrl T C 2: 35,038,600 (GRCm39) L1050P probably damaging Het
Col23a1 A T 11: 51,458,756 (GRCm39) T298S possibly damaging Het
Cyp26c1 A T 19: 37,675,065 (GRCm39) T129S probably damaging Het
Cyp2c38 A C 19: 39,390,135 (GRCm39) V355G possibly damaging Het
Cyp4a30b G A 4: 115,314,942 (GRCm39) V175M possibly damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Dcaf17 T A 2: 70,886,913 (GRCm39) Y67* probably null Het
Dll3 T C 7: 27,994,270 (GRCm39) D389G probably damaging Het
Fbxo33 A G 12: 59,265,830 (GRCm39) F146L probably benign Het
Gm10118 C T 10: 63,762,756 (GRCm39) V61M unknown Het
Gm9611 T C 14: 42,118,026 (GRCm39) D102G Het
Grik5 G A 7: 24,709,897 (GRCm39) A946V probably benign Het
Il17c A G 8: 123,150,207 (GRCm39) D150G possibly damaging Het
Ino80e A G 7: 126,460,893 (GRCm39) L22P probably damaging Het
Kcnh2 G T 5: 24,536,981 (GRCm39) T201K probably benign Het
Klrb1 A C 6: 128,687,012 (GRCm39) N173K possibly damaging Het
Kmt2d T A 15: 98,743,948 (GRCm39) Q3737H unknown Het
Lemd3 T C 10: 120,767,728 (GRCm39) D682G possibly damaging Het
Lilra5 T C 7: 4,241,216 (GRCm39) V51A probably benign Het
Lrrc25 G A 8: 71,070,314 (GRCm39) V32I possibly damaging Het
Mdh1b T A 1: 63,754,360 (GRCm39) M403L probably benign Het
Mms19 G A 19: 41,937,915 (GRCm39) L765F probably damaging Het
Msx3 T A 7: 139,628,900 (GRCm39) T5S probably benign Het
Myh13 A C 11: 67,242,960 (GRCm39) I958L possibly damaging Het
Myo18b T A 5: 113,021,429 (GRCm39) probably null Het
Myo9a G A 9: 59,775,394 (GRCm39) V1002I probably benign Het
Neb T C 2: 52,127,048 (GRCm39) K379R probably damaging Het
Nsmce2 A G 15: 59,473,208 (GRCm39) S216G probably benign Het
Odad1 A G 7: 45,591,263 (GRCm39) E246G probably damaging Het
Or11h7 A T 14: 50,890,801 (GRCm39) M36L probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pogz T A 3: 94,768,234 (GRCm39) H137Q probably damaging Het
Prrx2 G T 2: 30,735,519 (GRCm39) D25Y unknown Het
Ptprf T C 4: 118,088,844 (GRCm39) D653G probably benign Het
Rps6kl1 T A 12: 85,194,629 (GRCm39) E94V probably damaging Het
Slc44a1 A T 4: 53,481,510 (GRCm39) D27V probably damaging Het
Slc44a4 A G 17: 35,147,253 (GRCm39) I549V possibly damaging Het
Slc8a3 T C 12: 81,361,914 (GRCm39) T302A probably benign Het
Spic T A 10: 88,511,847 (GRCm39) K136N possibly damaging Het
Stk36 T C 1: 74,661,392 (GRCm39) L473P probably damaging Het
Syce1 G A 7: 140,361,987 (GRCm39) T32I possibly damaging Het
Tars2 G A 3: 95,658,199 (GRCm39) Q209* probably null Het
Tmem9b A G 7: 109,344,527 (GRCm39) V100A probably benign Het
Vmn1r67 A G 7: 10,181,128 (GRCm39) I131V probably benign Het
Vmn2r26 C T 6: 124,001,877 (GRCm39) T54I probably benign Het
Zfp142 T C 1: 74,610,747 (GRCm39) E1016G probably damaging Het
Zfp773 T C 7: 7,139,482 (GRCm39) T56A 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
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
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'- AGGGCTGATGTTTCTCAGGC -3'
(R):5'- ATACTAGGAGGCCCTGCTTC -3'

Sequencing Primer
(F):5'- TCTCAGGCTAAAGAAAATCTAGGCTG -3'
(R):5'- CTGCTTCAGCCTTCAATGAAAGG -3'
Posted On 2021-03-08