Incidental Mutation 'R4913:Pkp4'
ID 379675
Institutional Source Beutler Lab
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Name plakophilin 4
Synonyms p0071, 5031422I09Rik, Armrp, 9430019K17Rik
MMRRC Submission 042515-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4913 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 58991194-59185552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59135794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 186 (H186Q)
Ref Sequence ENSEMBL: ENSMUSP00000139141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000183359] [ENSMUST00000184705] [ENSMUST00000184332]
AlphaFold Q68FH0
Predicted Effect probably benign
Transcript: ENSMUST00000037903
AA Change: H186Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: H186Q

DomainStartEndE-ValueType
coiled coil region 41 63 N/A INTRINSIC
low complexity region 230 246 N/A INTRINSIC
low complexity region 324 337 N/A INTRINSIC
low complexity region 467 478 N/A INTRINSIC
ARM 574 614 5.68e-9 SMART
ARM 618 659 1.61e-8 SMART
ARM 660 717 4.54e1 SMART
ARM 719 766 9.97e0 SMART
low complexity region 777 788 N/A INTRINSIC
ARM 876 916 3.34e-6 SMART
ARM 964 1008 1.32e-4 SMART
low complexity region 1057 1073 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102754
AA Change: H186Q

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: H186Q

DomainStartEndE-ValueType
coiled coil region 41 63 N/A INTRINSIC
low complexity region 230 246 N/A INTRINSIC
low complexity region 324 337 N/A INTRINSIC
low complexity region 467 478 N/A INTRINSIC
ARM 558 598 5.68e-9 SMART
ARM 602 643 1.61e-8 SMART
ARM 644 701 4.54e1 SMART
ARM 703 750 9.97e0 SMART
low complexity region 761 772 N/A INTRINSIC
ARM 860 900 3.34e-6 SMART
ARM 948 992 1.32e-4 SMART
low complexity region 1083 1100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112577
SMART Domains Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991

DomainStartEndE-ValueType
low complexity region 126 137 N/A INTRINSIC
ARM 217 257 5.68e-9 SMART
ARM 261 302 1.61e-8 SMART
ARM 303 360 4.54e1 SMART
ARM 362 409 9.97e0 SMART
low complexity region 420 431 N/A INTRINSIC
ARM 519 559 3.34e-6 SMART
ARM 607 651 1.32e-4 SMART
low complexity region 742 759 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123908
AA Change: H186Q

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: H186Q

DomainStartEndE-ValueType
coiled coil region 41 63 N/A INTRINSIC
low complexity region 230 246 N/A INTRINSIC
low complexity region 324 337 N/A INTRINSIC
low complexity region 467 478 N/A INTRINSIC
ARM 574 614 5.68e-9 SMART
ARM 618 659 1.61e-8 SMART
ARM 660 717 4.54e1 SMART
ARM 719 766 9.97e0 SMART
low complexity region 777 788 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124725
Predicted Effect probably benign
Transcript: ENSMUST00000168631
AA Change: H186Q

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: H186Q

DomainStartEndE-ValueType
coiled coil region 41 63 N/A INTRINSIC
low complexity region 230 246 N/A INTRINSIC
low complexity region 324 337 N/A INTRINSIC
low complexity region 467 478 N/A INTRINSIC
ARM 558 598 5.68e-9 SMART
ARM 602 643 1.61e-8 SMART
ARM 644 701 4.54e1 SMART
ARM 703 750 9.97e0 SMART
low complexity region 761 772 N/A INTRINSIC
ARM 860 900 3.34e-6 SMART
ARM 948 992 1.32e-4 SMART
low complexity region 1041 1057 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183359
AA Change: H186Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139141
Gene: ENSMUSG00000026991
AA Change: H186Q

DomainStartEndE-ValueType
coiled coil region 41 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183625
Predicted Effect probably benign
Transcript: ENSMUST00000184705
Predicted Effect probably benign
Transcript: ENSMUST00000184332
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,255,381 (GRCm39) M267K possibly damaging Het
Acsm5 T C 7: 119,133,566 (GRCm39) S244P probably damaging Het
Actr6 A G 10: 89,550,808 (GRCm39) F329L probably benign Het
Actrt3 A G 3: 30,652,588 (GRCm39) S169P probably benign Het
Agtpbp1 C A 13: 59,647,886 (GRCm39) G645C probably damaging Het
AI661453 C T 17: 47,779,480 (GRCm39) R1069* probably null Het
Akr1c6 T C 13: 4,504,524 (GRCm39) I303T probably benign Het
Arnt A G 3: 95,397,965 (GRCm39) R588G probably damaging Het
Atf1 A G 15: 100,149,979 (GRCm39) probably null Het
Casp12 T C 9: 5,358,726 (GRCm39) V318A probably damaging Het
Cblb C T 16: 51,986,392 (GRCm39) P545L possibly damaging Het
Cc2d2a A T 5: 43,896,665 (GRCm39) I1521F probably benign Het
Ccn2 T C 10: 24,473,225 (GRCm39) C255R probably damaging Het
Ccnb1ip1 T A 14: 51,029,601 (GRCm39) K154* probably null Het
Cd300a A T 11: 114,784,198 (GRCm39) K69* probably null Het
Cdin1 A G 2: 115,500,568 (GRCm39) probably null Het
Clec10a A G 11: 70,060,851 (GRCm39) Y78C probably damaging Het
Cnot1 T C 8: 96,489,695 (GRCm39) I503V possibly damaging Het
Cpa2 A G 6: 30,554,292 (GRCm39) H304R probably damaging Het
Crb2 A T 2: 37,680,257 (GRCm39) H395L probably benign Het
Dnah8 T A 17: 31,038,113 (GRCm39) N4257K probably damaging Het
Dnase2a G A 8: 85,635,477 (GRCm39) D25N probably damaging Het
Drd1 T C 13: 54,207,186 (GRCm39) T343A probably benign Het
Emid1 G A 11: 5,082,012 (GRCm39) T161I probably benign Het
Epn2 A G 11: 61,425,402 (GRCm39) probably null Het
Esp36 A T 17: 38,728,055 (GRCm39) N75K possibly damaging Het
Faf1 A G 4: 109,792,746 (GRCm39) S573G possibly damaging Het
Fam149a T G 8: 45,806,920 (GRCm39) S231R probably damaging Het
Fam78a T C 2: 31,959,774 (GRCm39) E112G probably damaging Het
Fgf18 T C 11: 33,084,316 (GRCm39) D46G probably benign Het
Fggy G A 4: 95,585,313 (GRCm39) probably null Het
Foxb1 T C 9: 69,666,859 (GRCm39) M224V probably benign Het
Gpr75 T C 11: 30,841,808 (GRCm39) C238R possibly damaging Het
Gsdmc3 A G 15: 63,730,122 (GRCm39) *481R probably null Het
H2az2 C A 11: 6,383,750 (GRCm39) A57S probably damaging Het
Hsd17b11 T C 5: 104,140,748 (GRCm39) I250V probably benign Het
Hus1 C A 11: 8,946,856 (GRCm39) L280F probably benign Het
Ide A T 19: 37,306,469 (GRCm39) H101Q unknown Het
Ido1 T C 8: 25,074,533 (GRCm39) D279G probably benign Het
Inpp5b T C 4: 124,674,214 (GRCm39) V307A probably benign Het
Ipo5 G A 14: 121,172,498 (GRCm39) V519I probably damaging Het
Krba1 T C 6: 48,383,891 (GRCm39) V239A probably benign Het
Lmod3 A G 6: 97,224,125 (GRCm39) probably null Het
Macf1 T C 4: 123,393,682 (GRCm39) D836G probably damaging Het
Malt1 G T 18: 65,609,351 (GRCm39) C774F probably damaging Het
Map2k4 C A 11: 65,600,758 (GRCm39) D58Y probably damaging Het
Mc2r T C 18: 68,540,411 (GRCm39) N294S probably benign Het
Mybpc1 A G 10: 88,389,116 (GRCm39) probably null Het
Mybpc3 A G 2: 90,956,609 (GRCm39) E637G possibly damaging Het
Narf A G 11: 121,135,469 (GRCm39) Q107R probably damaging Het
Nlrp3 G A 11: 59,440,064 (GRCm39) G547D probably benign Het
Nucb2 G T 7: 116,123,540 (GRCm39) G51* probably null Het
Or10al5 T A 17: 38,063,315 (GRCm39) V190D possibly damaging Het
Otog C A 7: 45,913,526 (GRCm39) D786E probably benign Het
Otogl T C 10: 107,712,716 (GRCm39) T543A probably damaging Het
Pgap6 T C 17: 26,339,513 (GRCm39) F584L probably damaging Het
Phf20l1 A G 15: 66,476,704 (GRCm39) N266S probably benign Het
Pink1 G T 4: 138,042,866 (GRCm39) S446* probably null Het
Prl3b1 T C 13: 27,433,460 (GRCm39) V205A probably damaging Het
Prss32 T C 17: 24,078,157 (GRCm39) V281A probably damaging Het
Psd3 C T 8: 68,573,821 (GRCm39) C120Y probably damaging Het
Ptcra A G 17: 47,069,574 (GRCm39) L99P probably damaging Het
Rab3gap2 C T 1: 184,995,026 (GRCm39) T855I probably benign Het
Rabgap1l T C 1: 160,066,111 (GRCm39) E199G probably damaging Het
Rbm44 T A 1: 91,083,216 (GRCm39) C580S probably damaging Het
Resf1 C G 6: 149,230,887 (GRCm39) S1311C probably damaging Het
Rhoq T C 17: 87,302,493 (GRCm39) V143A probably benign Het
Sacs T A 14: 61,451,246 (GRCm39) Y4431N probably benign Het
Sec24b A T 3: 129,796,028 (GRCm39) S367T probably benign Het
Sema4c G A 1: 36,589,266 (GRCm39) S620F probably benign Het
Slc12a1 G A 2: 125,070,670 (GRCm39) G1054E probably damaging Het
Slc16a3 A G 11: 120,848,794 (GRCm39) R417G probably benign Het
Slc22a29 A T 19: 8,195,722 (GRCm39) S106T probably benign Het
Slc41a2 T C 10: 83,149,284 (GRCm39) T220A probably damaging Het
Tap1 T C 17: 34,412,468 (GRCm39) F474L possibly damaging Het
Tas2r106 G T 6: 131,655,422 (GRCm39) A143D probably benign Het
Tbx6 A T 7: 126,383,707 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,706 (GRCm39) N402I probably damaging Het
Tle3 T A 9: 61,281,275 (GRCm39) V22E probably damaging Het
Trip4 T C 9: 65,765,639 (GRCm39) I353M probably damaging Het
Ubr2 C A 17: 47,270,385 (GRCm39) probably null Het
Ugdh A G 5: 65,580,791 (GRCm39) probably null Het
Uhrf1 T C 17: 56,622,478 (GRCm39) V431A probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zfp820 T C 17: 22,038,200 (GRCm39) K376R probably benign Het
Other mutations in Pkp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Pkp4 APN 2 59,169,099 (GRCm39) missense probably damaging 0.99
IGL00987:Pkp4 APN 2 59,138,701 (GRCm39) missense probably damaging 0.98
IGL01321:Pkp4 APN 2 59,180,971 (GRCm39) splice site probably null
IGL01393:Pkp4 APN 2 59,178,269 (GRCm39) missense probably damaging 1.00
IGL02058:Pkp4 APN 2 59,142,073 (GRCm39) nonsense probably null
IGL02313:Pkp4 APN 2 59,140,598 (GRCm39) nonsense probably null
IGL02635:Pkp4 APN 2 59,135,842 (GRCm39) unclassified probably benign
IGL03017:Pkp4 APN 2 59,096,769 (GRCm39) missense probably benign 0.06
IGL03051:Pkp4 APN 2 59,142,106 (GRCm39) missense probably benign 0.29
Degrasso UTSW 2 59,148,944 (GRCm39) missense probably damaging 1.00
melted UTSW 2 59,165,276 (GRCm39) critical splice donor site probably null
BB004:Pkp4 UTSW 2 59,142,098 (GRCm39) missense probably damaging 0.97
BB014:Pkp4 UTSW 2 59,142,098 (GRCm39) missense probably damaging 0.97
R0206:Pkp4 UTSW 2 59,096,780 (GRCm39) missense probably damaging 0.99
R0207:Pkp4 UTSW 2 59,135,832 (GRCm39) missense possibly damaging 0.89
R0208:Pkp4 UTSW 2 59,096,780 (GRCm39) missense probably damaging 0.99
R0325:Pkp4 UTSW 2 59,148,873 (GRCm39) missense probably damaging 1.00
R0620:Pkp4 UTSW 2 59,152,987 (GRCm39) missense possibly damaging 0.46
R0781:Pkp4 UTSW 2 59,169,109 (GRCm39) missense probably damaging 1.00
R1110:Pkp4 UTSW 2 59,169,109 (GRCm39) missense probably damaging 1.00
R1537:Pkp4 UTSW 2 59,045,147 (GRCm39) missense probably damaging 1.00
R1607:Pkp4 UTSW 2 59,152,898 (GRCm39) missense probably benign 0.00
R1654:Pkp4 UTSW 2 59,167,963 (GRCm39) missense probably damaging 0.96
R1760:Pkp4 UTSW 2 59,142,185 (GRCm39) missense probably damaging 0.97
R2051:Pkp4 UTSW 2 59,165,248 (GRCm39) missense probably benign 0.37
R2871:Pkp4 UTSW 2 59,138,500 (GRCm39) missense probably benign 0.35
R2871:Pkp4 UTSW 2 59,138,500 (GRCm39) missense probably benign 0.35
R3161:Pkp4 UTSW 2 59,138,449 (GRCm39) missense probably damaging 1.00
R4261:Pkp4 UTSW 2 59,135,506 (GRCm39) missense probably damaging 1.00
R4342:Pkp4 UTSW 2 59,180,952 (GRCm39) missense probably damaging 0.98
R4731:Pkp4 UTSW 2 59,165,276 (GRCm39) critical splice donor site probably null
R4799:Pkp4 UTSW 2 59,172,449 (GRCm39) missense probably damaging 1.00
R5383:Pkp4 UTSW 2 59,140,617 (GRCm39) nonsense probably null
R5418:Pkp4 UTSW 2 59,140,506 (GRCm39) missense probably benign 0.09
R5906:Pkp4 UTSW 2 59,135,420 (GRCm39) missense possibly damaging 0.79
R5946:Pkp4 UTSW 2 59,135,411 (GRCm39) missense probably benign 0.01
R6360:Pkp4 UTSW 2 59,045,091 (GRCm39) missense probably benign 0.01
R6616:Pkp4 UTSW 2 59,180,896 (GRCm39) nonsense probably null
R6817:Pkp4 UTSW 2 59,148,944 (GRCm39) missense probably damaging 1.00
R7390:Pkp4 UTSW 2 59,140,484 (GRCm39) missense possibly damaging 0.94
R7408:Pkp4 UTSW 2 59,142,110 (GRCm39) missense probably damaging 1.00
R7464:Pkp4 UTSW 2 59,138,481 (GRCm39) missense probably benign 0.12
R7702:Pkp4 UTSW 2 59,138,757 (GRCm39) missense probably damaging 0.99
R7787:Pkp4 UTSW 2 59,152,881 (GRCm39) missense probably damaging 0.98
R7927:Pkp4 UTSW 2 59,142,098 (GRCm39) missense probably damaging 0.97
R8055:Pkp4 UTSW 2 59,138,359 (GRCm39) missense probably benign
R8359:Pkp4 UTSW 2 59,180,895 (GRCm39) missense probably damaging 1.00
R8465:Pkp4 UTSW 2 59,172,525 (GRCm39) missense possibly damaging 0.90
R8555:Pkp4 UTSW 2 59,138,379 (GRCm39) nonsense probably null
R8909:Pkp4 UTSW 2 59,184,758 (GRCm39) missense possibly damaging 0.71
R9224:Pkp4 UTSW 2 59,144,738 (GRCm39) missense probably benign 0.41
R9397:Pkp4 UTSW 2 59,148,856 (GRCm39) nonsense probably null
R9486:Pkp4 UTSW 2 59,138,722 (GRCm39) missense probably benign 0.27
R9583:Pkp4 UTSW 2 59,178,104 (GRCm39) missense possibly damaging 0.80
R9732:Pkp4 UTSW 2 59,138,797 (GRCm39) missense possibly damaging 0.94
Z1176:Pkp4 UTSW 2 59,172,588 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCTCCATGAAAGTGAGGGTCTG -3'
(R):5'- GCAACTCAAAACAGTATGCAGTAAG -3'

Sequencing Primer
(F):5'- CATATTTTCCCTTTGAAGATGAGCC -3'
(R):5'- CAGTATGCAGTAAGTTTTAGTGAAGG -3'
Posted On 2016-04-15