Incidental Mutation 'R1265:Pkp2'
ID 151152
Institutional Source Beutler Lab
Gene Symbol Pkp2
Ensembl Gene ENSMUSG00000041957
Gene Name plakophilin 2
Synonyms Pkp2l, 1200008D14Rik, 1200012P04Rik
MMRRC Submission 039332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1265 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16031209-16090576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16043168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 76 (N76S)
Ref Sequence ENSEMBL: ENSMUSP00000036890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039408] [ENSMUST00000161342] [ENSMUST00000162150]
AlphaFold Q9CQ73
Predicted Effect probably benign
Transcript: ENSMUST00000039408
AA Change: N76S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036890
Gene: ENSMUSG00000041957
AA Change: N76S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161342
SMART Domains Protein: ENSMUSP00000125219
Gene: ENSMUSG00000041957

DomainStartEndE-ValueType
low complexity region 258 271 N/A INTRINSIC
Pfam:Arm 342 382 3.5e-10 PFAM
Pfam:Arm 384 425 4.7e-9 PFAM
Blast:ARM 426 477 5e-27 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162150
SMART Domains Protein: ENSMUSP00000124898
Gene: ENSMUSG00000041957

DomainStartEndE-ValueType
low complexity region 258 271 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,836,734 (GRCm39) D316G possibly damaging Het
Aebp1 T C 11: 5,821,740 (GRCm39) V713A probably damaging Het
Alg2 T C 4: 47,474,289 (GRCm39) probably benign Het
Ank1 T A 8: 23,607,053 (GRCm39) V1273E possibly damaging Het
Cntnap5a A G 1: 116,356,248 (GRCm39) T760A possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Igf2r A T 17: 12,913,011 (GRCm39) V1779E probably damaging Het
Lrp1b C T 2: 41,366,666 (GRCm39) V537M probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Ly6h T A 15: 75,438,032 (GRCm39) M27L probably benign Het
Nphs2 A G 1: 156,146,317 (GRCm39) T173A probably damaging Het
Nsd3 T C 8: 26,172,578 (GRCm39) V779A probably benign Het
Or3a1d T C 11: 74,237,766 (GRCm39) I95V probably benign Het
Pdzd7 T C 19: 45,029,124 (GRCm39) D82G possibly damaging Het
Ppip5k2 A G 1: 97,647,625 (GRCm39) S976P probably benign Het
Slc38a3 A G 9: 107,529,185 (GRCm39) F489S probably damaging Het
Sox11 T C 12: 27,391,735 (GRCm39) T225A probably benign Het
Tbx10 T C 19: 4,046,625 (GRCm39) F35S probably damaging Het
Tcf4 T C 18: 69,776,003 (GRCm39) M40T possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thsd7a T C 6: 12,317,418 (GRCm39) N1630S probably damaging Het
Urb2 A G 8: 124,751,892 (GRCm39) D75G 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
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'- GGCTACCTGCAACTCAGAAAGAGAG -3'
(R):5'- GCAGTCATTCCAGCCTGTATGAGAG -3'

Sequencing Primer
(F):5'- GATTACTGGCATACACTACTGGC -3'
(R):5'- TGAAGCATATTGACCTGACCG -3'
Posted On 2014-01-29