Incidental Mutation 'R8359:Pkp4'
ID 645895
Institutional Source Beutler Lab
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Name plakophilin 4
Synonyms p0071, 5031422I09Rik, Armrp, 9430019K17Rik
MMRRC Submission 067872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8359 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 58991194-59185552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59180895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1061 (Y1061C)
Ref Sequence ENSEMBL: ENSMUSP00000099815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000168631] [ENSMUST00000183359]
AlphaFold Q68FH0
Predicted Effect probably benign
Transcript: ENSMUST00000037903
SMART Domains Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991

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: Y1061C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: Y1061C

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 damaging
Transcript: ENSMUST00000112577
AA Change: Y720C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: Y720C

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 benign
Transcript: ENSMUST00000168631
SMART Domains Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991

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 benign
Transcript: ENSMUST00000183359
SMART Domains Protein: ENSMUSP00000139141
Gene: ENSMUSG00000026991

DomainStartEndE-ValueType
coiled coil region 41 63 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,296,502 (GRCm39) V315D probably damaging Het
Adgrf1 A T 17: 43,621,286 (GRCm39) I508F probably damaging Het
Atpaf2 T C 11: 60,298,129 (GRCm39) D147G probably damaging Het
Brwd1 T C 16: 95,817,409 (GRCm39) T1368A probably damaging Het
Cacna1s A T 1: 136,043,799 (GRCm39) E1626V probably benign Het
Carm1 G A 9: 21,480,765 (GRCm39) V80I possibly damaging Het
Cenpw T A 10: 30,074,484 (GRCm39) D71V probably damaging Het
Cit T A 5: 116,122,603 (GRCm39) probably null Het
Ckmt1 A T 2: 121,193,531 (GRCm39) T364S probably benign Het
Col6a4 T C 9: 105,945,583 (GRCm39) S844G probably benign Het
Crybg1 T C 10: 43,868,538 (GRCm39) E1380G probably benign Het
Cyp21a1 A G 17: 35,021,105 (GRCm39) probably null Het
Dhodh A C 8: 110,333,038 (GRCm39) D12E probably benign Het
Dnali1 T A 4: 124,957,460 (GRCm39) T95S probably damaging Het
Dynlrb1 A G 2: 155,091,870 (GRCm39) N93D probably benign Het
Edem1 C T 6: 108,823,774 (GRCm39) A390V probably benign Het
Enthd1 T C 15: 80,358,356 (GRCm39) D388G probably benign Het
Fam170a A G 18: 50,414,677 (GRCm39) T108A probably damaging Het
Fryl A G 5: 73,233,276 (GRCm39) S1531P probably benign Het
Golm2 A T 2: 121,697,632 (GRCm39) probably benign Het
Hspbap1 C A 16: 35,645,366 (GRCm39) N350K probably benign Het
Htr3b A C 9: 48,858,596 (GRCm39) S94R probably damaging Het
Ide A T 19: 37,307,886 (GRCm39) V42E Het
Igf2r A G 17: 12,902,748 (GRCm39) V2434A probably benign Het
Katnip T C 7: 125,468,023 (GRCm39) probably null Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Mccc1 C T 3: 36,018,493 (GRCm39) V614I probably benign Het
Mos A G 4: 3,871,097 (GRCm39) Y240H probably damaging Het
Myh11 C T 16: 14,026,095 (GRCm39) probably null Het
Nexn T A 3: 151,953,998 (GRCm39) D166V probably damaging Het
Or10h1b G A 17: 33,395,895 (GRCm39) C173Y probably damaging Het
Or2t47 G T 11: 58,443,029 (GRCm39) T12N probably benign Het
Or4p4 A T 2: 88,483,332 (GRCm39) M279L probably benign Het
Or5p81 T A 7: 108,267,518 (GRCm39) N298K probably benign Het
Pla2g6 T C 15: 79,171,370 (GRCm39) D740G probably damaging Het
Pla2r1 T A 2: 60,273,627 (GRCm39) I920L probably benign Het
Plekha2 A G 8: 25,578,407 (GRCm39) I31T probably damaging Het
Ppp1r16b G T 2: 158,603,295 (GRCm39) V407L probably benign Het
Prss50 A G 9: 110,691,370 (GRCm39) I225V probably damaging Het
Rmdn2 A T 17: 79,935,580 (GRCm39) E231V Het
Sema3c T C 5: 17,858,726 (GRCm39) S42P possibly damaging Het
Sh2d1b1 T A 1: 170,110,693 (GRCm39) probably null Het
Slc22a20 T C 19: 6,021,554 (GRCm39) I483V probably benign Het
Slc30a2 T C 4: 134,076,690 (GRCm39) V275A probably damaging Het
Slc6a3 T A 13: 73,693,002 (GRCm39) F207L probably benign Het
Slc9a1 A T 4: 133,147,927 (GRCm39) Q648H probably damaging Het
Slpi A T 2: 164,197,975 (GRCm39) M1K probably null Het
Smc5 A C 19: 23,211,443 (GRCm39) S564A possibly damaging Het
Smchd1 A T 17: 71,738,238 (GRCm39) F542L probably damaging Het
Sycp1 T A 3: 102,727,909 (GRCm39) K901N probably damaging Het
Synpo2l T A 14: 20,716,208 (GRCm39) T126S probably benign Het
Upp2 A G 2: 58,667,955 (GRCm39) N216S probably benign Het
Wnk1 T C 6: 119,969,408 (GRCm39) D349G probably damaging Het
Zfp180 C T 7: 23,804,337 (GRCm39) A252V probably benign Het
Zfr2 C T 10: 81,078,653 (GRCm39) T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 (GRCm39) T504I possibly damaging 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
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
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'- CAGAGCCGGTTTTACTGTGG -3'
(R):5'- GGCAACAATCCTGACAGCAG -3'

Sequencing Primer
(F):5'- CCGGTTTTACTGTGGCATTGC -3'
(R):5'- TTTGCTGCTACGACCGAG -3'
Posted On 2020-09-02