Incidental Mutation 'R4261:Pkp4'
ID 322639
Institutional Source Beutler Lab
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Name plakophilin 4
Synonyms p0071, 5031422I09Rik, Armrp, 9430019K17Rik
MMRRC Submission 041074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4261 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 58991194-59185552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59135506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 126 (Y126C)
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 damaging
Transcript: ENSMUST00000037903
AA Change: Y126C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: Y126C

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 damaging
Transcript: ENSMUST00000102754
AA Change: Y126C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: Y126C

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 probably damaging
Transcript: ENSMUST00000123908
AA Change: Y126C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: Y126C

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 damaging
Transcript: ENSMUST00000168631
AA Change: Y126C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: Y126C

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: Y126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139141
Gene: ENSMUSG00000026991
AA Change: Y126C

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
Meta Mutation Damage Score 0.0894 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (53/55)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Adam9 G A 8: 25,454,923 (GRCm39) Q733* probably null Het
Adamts4 C T 1: 171,086,673 (GRCm39) P822S probably benign Het
Arhgap9 G C 10: 127,164,334 (GRCm39) R537P probably damaging Het
Bsn T A 9: 107,987,883 (GRCm39) probably benign Het
Car5a A T 8: 122,671,488 (GRCm39) H15Q probably benign Het
Disp1 A T 1: 182,870,950 (GRCm39) I490N probably damaging Het
Dlgap5 T G 14: 47,651,245 (GRCm39) Y96S probably damaging Het
Dnah10 T A 5: 124,807,201 (GRCm39) V162D possibly damaging Het
Dock7 A T 4: 98,892,123 (GRCm39) M821K possibly damaging Het
Exoc3l T C 8: 106,017,599 (GRCm39) R528G probably damaging Het
Fam234b G A 6: 135,186,134 (GRCm39) G17E unknown Het
Grhl2 G A 15: 37,361,067 (GRCm39) G617D possibly damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Hoxd9 C A 2: 74,526,031 (GRCm39) probably benign Het
Hspa9 A G 18: 35,072,476 (GRCm39) S550P probably damaging Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kat6b T A 14: 21,719,737 (GRCm39) I1363N probably damaging Het
Ltbp1 T A 17: 75,598,362 (GRCm39) C614* probably null Het
Mphosph8 A G 14: 56,911,922 (GRCm39) D315G probably benign Het
Mthfr-ps1 A C 5: 78,622,330 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,850,693 (GRCm39) T730A probably benign Het
Myef2 T C 2: 124,957,399 (GRCm39) T119A possibly damaging Het
Pald1 A G 10: 61,179,471 (GRCm39) L466P probably damaging Het
Pcdh15 G A 10: 74,481,512 (GRCm39) V286M probably damaging Het
Pcdhgb2 A G 18: 37,824,950 (GRCm39) D647G probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Plppr1 A G 4: 49,300,993 (GRCm39) I109V probably benign Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ppp2r5d G A 17: 46,998,007 (GRCm39) Q219* probably null Het
Raf1 C T 6: 115,600,015 (GRCm39) probably null Het
Rfx7 C T 9: 72,523,925 (GRCm39) R372W probably damaging Het
Robo4 C A 9: 37,316,877 (GRCm39) S397R probably benign Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Serpina1c T C 12: 103,863,339 (GRCm39) K287R probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Ttn T A 2: 76,628,384 (GRCm39) Y14592F probably damaging Het
Ube3b T C 5: 114,536,489 (GRCm39) F245S possibly damaging Het
Ugt3a1 G A 15: 9,335,879 (GRCm39) probably null Het
Wdr91 T A 6: 34,881,457 (GRCm39) S297C possibly damaging Het
Zcwpw2 T C 9: 117,827,982 (GRCm39) noncoding transcript 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
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
R4913:Pkp4 UTSW 2 59,135,794 (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'- GCAGAGCCTATGGATTTCAGG -3'
(R):5'- CACTGTCAGAGTAAGAATTCATCTGTG -3'

Sequencing Primer
(F):5'- AGCCTATGGATTTCAGGATTCTATTG -3'
(R):5'- ATTCATCTGTGTTGAACTTCTTGAG -3'
Posted On 2015-06-20