Incidental Mutation 'R7698:Pkp2'
ID 593809
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 045759-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 16058523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 402 (Q402K)
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408]
AlphaFold Q9CQ73
Predicted Effect probably benign
Transcript: ENSMUST00000039408
AA Change: Q402K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: Q402K

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: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik C A 14: 33,774,570 (GRCm39) L140F unknown Het
Actn1 T C 12: 80,221,311 (GRCm39) T581A probably benign Het
Ak9 T C 10: 41,224,072 (GRCm39) L495S Het
Aldh5a1 T C 13: 25,095,731 (GRCm39) D462G probably damaging Het
Amz2 A G 11: 109,319,833 (GRCm39) D73G probably damaging Het
Ank2 A G 3: 126,825,860 (GRCm39) Y361H probably benign Het
Atp8b1 A G 18: 64,704,093 (GRCm39) Y342H probably benign Het
Atp8b5 C T 4: 43,366,735 (GRCm39) T833I probably benign Het
Camkk2 A G 5: 122,884,482 (GRCm39) I313T probably damaging Het
Cdk18 T C 1: 132,050,116 (GRCm39) T20A probably damaging Het
Cenpf A T 1: 189,394,269 (GRCm39) C479S probably benign Het
Cfap221 C A 1: 119,889,659 (GRCm39) E192* probably null Het
Cfap44 C T 16: 44,254,149 (GRCm39) H958Y probably damaging Het
Cic A T 7: 24,972,597 (GRCm39) Q776L possibly damaging Het
Cldn17 C A 16: 88,303,244 (GRCm39) G162* probably null Het
Col19a1 T A 1: 24,351,159 (GRCm39) Y748F probably benign Het
Col27a1 C T 4: 63,143,955 (GRCm39) P548S possibly damaging Het
Cracdl T G 1: 37,664,452 (GRCm39) E482A probably benign Het
Ctsr T A 13: 61,310,381 (GRCm39) M92L probably benign Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Defa34 G T 8: 22,156,645 (GRCm39) C91F probably damaging Het
Dennd2c G A 3: 103,072,359 (GRCm39) V815I possibly damaging Het
Dlgap4 C T 2: 156,591,015 (GRCm39) Q734* probably null Het
Dph1 A T 11: 75,081,267 (GRCm39) S7T probably benign Het
Dpp8 T C 9: 64,949,618 (GRCm39) V121A probably benign Het
Dst G A 1: 34,229,468 (GRCm39) G2354S probably benign Het
Duox2 A T 2: 122,111,245 (GRCm39) L1453Q probably damaging Het
Ecpas C G 4: 58,832,660 (GRCm39) C900S unknown Het
Exosc10 T A 4: 148,642,955 (GRCm39) S11T probably benign Het
Fetub A G 16: 22,758,059 (GRCm39) T281A probably benign Het
Flii A T 11: 60,610,918 (GRCm39) W504R probably damaging Het
Gm5093 T C 17: 46,750,866 (GRCm39) R54G possibly damaging Het
Gmcl1 T C 6: 86,684,397 (GRCm39) D375G probably benign Het
Hikeshi A T 7: 89,572,889 (GRCm39) N101K probably benign Het
Hmcn2 T C 2: 31,313,165 (GRCm39) V3458A probably damaging Het
Hspa2 A G 12: 76,452,083 (GRCm39) N259S possibly damaging Het
Irf6 T C 1: 192,844,075 (GRCm39) I110T probably damaging Het
Kcnj8 T A 6: 142,511,479 (GRCm39) H376L probably damaging Het
Kdm6b G A 11: 69,296,807 (GRCm39) P487S probably benign Het
Lcp1 C A 14: 75,443,651 (GRCm39) Y222* probably null Het
Manea T C 4: 26,327,763 (GRCm39) D426G probably damaging Het
Map3k20 G T 2: 72,195,025 (GRCm39) E101* probably null Het
Map3k20 C G 2: 72,268,658 (GRCm39) S555C probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myo6 C T 9: 80,124,938 (GRCm39) P6S unknown Het
Myoc A T 1: 162,467,014 (GRCm39) Q61L probably damaging Het
N4bp2 T A 5: 65,965,500 (GRCm39) M1183K probably benign Het
Or52e7 T A 7: 104,685,114 (GRCm39) H236Q probably benign Het
Or5b114-ps1 T C 19: 13,352,404 (GRCm39) F26S probably damaging Het
Or5b21 T C 19: 12,840,077 (GRCm39) S313P possibly damaging Het
Or8b40 T A 9: 38,027,188 (GRCm39) L37* probably null Het
Osbpl11 C G 16: 33,054,817 (GRCm39) N633K probably benign Het
Pate7 T C 9: 35,688,472 (GRCm39) M38V probably benign Het
Pcdhgb5 A G 18: 37,865,684 (GRCm39) E493G probably damaging Het
Phf20 T A 2: 156,136,058 (GRCm39) W626R probably damaging Het
Plch2 C T 4: 155,087,244 (GRCm39) D336N possibly damaging Het
Plk1 T C 7: 121,768,481 (GRCm39) F535L probably damaging Het
Ppp1r9a A T 6: 4,906,430 (GRCm39) E328D probably benign Het
Prss44 G A 9: 110,646,379 (GRCm39) V369M probably benign Het
Rilp A G 11: 75,401,798 (GRCm39) S193G probably benign Het
Rusc2 C T 4: 43,414,900 (GRCm39) Q69* probably null Het
Ryr2 T C 13: 11,776,201 (GRCm39) D1112G possibly damaging Het
Smc6 A G 12: 11,333,141 (GRCm39) R238G possibly damaging Het
Spen A G 4: 141,200,156 (GRCm39) S2824P probably damaging Het
Stk4 T C 2: 163,925,663 (GRCm39) M77T probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Thsd1 C T 8: 22,749,003 (GRCm39) R625* probably null Het
Tle3 A T 9: 61,320,138 (GRCm39) N522I probably damaging Het
Tmcc1 C A 6: 116,020,763 (GRCm39) E230* probably null Het
Vmn2r90 T C 17: 17,953,596 (GRCm39) S587P probably benign Het
Wt1 A T 2: 104,957,161 (GRCm39) Q7L probably benign Het
Zfhx2 T C 14: 55,300,306 (GRCm39) I2482V probably benign Het
Zfpm2 A T 15: 40,959,487 (GRCm39) I189F 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
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
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'- TTTATTTCTTCCCTAGGTCAATCAAC -3'
(R):5'- CGCATGCTCAAACCAAAAGGTAA -3'

Sequencing Primer
(F):5'- TAGGTCAATCAACTTCGAGGC -3'
(R):5'- TCTCCTTCAGAAGAAAGGGATTC -3'
Posted On 2019-11-12