Incidental Mutation 'IGL02058:Pkp4'
ID185291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Nameplakophilin 4
SynonymsArmrp, 9430019K17Rik, 5031422I09Rik, p0071
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02058
Quality Score
Status
Chromosome2
Chromosomal Location59160850-59355208 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 59311729 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 459 (R459*)
Ref Sequence ENSEMBL: ENSMUSP00000129836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000183359] [ENSMUST00000184332]
Predicted Effect probably null
Transcript: ENSMUST00000037903
AA Change: R459*
SMART Domains Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: R459*

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 null
Transcript: ENSMUST00000102754
AA Change: R459*
SMART Domains Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: R459*

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 null
Transcript: ENSMUST00000112577
AA Change: R118*
SMART Domains Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: R118*

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 null
Transcript: ENSMUST00000123908
AA Change: R459*
SMART Domains Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: R459*

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 null
Transcript: ENSMUST00000168631
AA Change: R459*
SMART Domains Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: R459*

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
Predicted Effect probably benign
Transcript: ENSMUST00000184332
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C A 2: 69,243,498 A1228S probably damaging Het
Adamts12 G A 15: 11,215,610 R239K probably benign Het
Akap6 A G 12: 53,140,555 D1584G probably damaging Het
Asns A G 6: 7,685,184 C158R probably damaging Het
Atr T C 9: 95,871,487 L714P probably damaging Het
Ccdc126 G T 6: 49,334,200 E47D probably benign Het
Cemip T C 7: 83,997,292 S183G probably damaging Het
Cntn3 A G 6: 102,199,360 probably benign Het
Cyp11b2 G T 15: 74,853,189 N270K probably benign Het
D230025D16Rik T A 8: 105,239,709 I105N probably damaging Het
Ephx2 A G 14: 66,103,724 probably null Het
Fcho2 G A 13: 98,730,906 T683I probably damaging Het
Grm7 G A 6: 111,358,317 C563Y probably damaging Het
Hmcn1 T C 1: 150,704,181 N1935S probably benign Het
Hus1b A G 13: 30,946,917 L253S probably benign Het
Kmt5b T C 19: 3,793,181 Y93H probably damaging Het
Krt73 A T 15: 101,802,021 S93T probably benign Het
Lrp8 T C 4: 107,870,109 V917A probably benign Het
Map2k6 C T 11: 110,492,583 T106M probably damaging Het
Ncor1 A G 11: 62,344,637 S664P probably damaging Het
Nmt1 C T 11: 103,052,290 T157I probably benign Het
Nup160 T C 2: 90,729,707 S1259P probably damaging Het
Pak1 C T 7: 97,911,115 A523V probably damaging Het
Parpbp A C 10: 88,144,036 S19R probably benign Het
Pdzd2 G T 15: 12,376,296 T1251N possibly damaging Het
Pitpnm3 A T 11: 72,120,139 N22K probably benign Het
Pkn1 G T 8: 83,681,225 C418* probably null Het
Pkn2 A G 3: 142,803,663 F723L probably damaging Het
Prex1 A C 2: 166,585,183 S871A probably benign Het
Ptprz1 A G 6: 23,002,503 T1531A probably benign Het
Rad1 C A 15: 10,493,275 Q263K probably benign Het
Sh2d6 C A 6: 72,513,978 G307* probably null Het
Slc52a3 T A 2: 152,005,891 N306K probably damaging Het
Spock3 A T 8: 63,245,198 R195* probably null Het
Stil A G 4: 115,014,162 S310G probably benign Het
Wbp1l T A 19: 46,652,520 C80* probably null Het
Wnt2b A G 3: 104,947,092 V350A probably benign Het
Other mutations in Pkp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Pkp4 APN 2 59338755 missense probably damaging 0.99
IGL00987:Pkp4 APN 2 59308357 missense probably damaging 0.98
IGL01321:Pkp4 APN 2 59350627 splice site probably null
IGL01393:Pkp4 APN 2 59347925 missense probably damaging 1.00
IGL02313:Pkp4 APN 2 59310254 nonsense probably null
IGL02635:Pkp4 APN 2 59305498 unclassified probably benign
IGL03017:Pkp4 APN 2 59266425 missense probably benign 0.06
IGL03051:Pkp4 APN 2 59311762 missense probably benign 0.29
degrasso UTSW 2 59318600 missense probably damaging 1.00
melted UTSW 2 59334932 critical splice donor site probably null
R0206:Pkp4 UTSW 2 59266436 missense probably damaging 0.99
R0207:Pkp4 UTSW 2 59305488 missense possibly damaging 0.89
R0208:Pkp4 UTSW 2 59266436 missense probably damaging 0.99
R0325:Pkp4 UTSW 2 59318529 missense probably damaging 1.00
R0620:Pkp4 UTSW 2 59322643 missense possibly damaging 0.46
R0781:Pkp4 UTSW 2 59338765 missense probably damaging 1.00
R1110:Pkp4 UTSW 2 59338765 missense probably damaging 1.00
R1537:Pkp4 UTSW 2 59214803 missense probably damaging 1.00
R1607:Pkp4 UTSW 2 59322554 missense probably benign 0.00
R1654:Pkp4 UTSW 2 59337619 missense probably damaging 0.96
R1760:Pkp4 UTSW 2 59311841 missense probably damaging 0.97
R2051:Pkp4 UTSW 2 59334904 missense probably benign 0.37
R2871:Pkp4 UTSW 2 59308156 missense probably benign 0.35
R2871:Pkp4 UTSW 2 59308156 missense probably benign 0.35
R3161:Pkp4 UTSW 2 59308105 missense probably damaging 1.00
R4261:Pkp4 UTSW 2 59305162 missense probably damaging 1.00
R4342:Pkp4 UTSW 2 59350608 missense probably damaging 0.98
R4731:Pkp4 UTSW 2 59334932 critical splice donor site probably null
R4799:Pkp4 UTSW 2 59342105 missense probably damaging 1.00
R4913:Pkp4 UTSW 2 59305450 missense probably damaging 1.00
R5383:Pkp4 UTSW 2 59310273 nonsense probably null
R5418:Pkp4 UTSW 2 59310162 missense probably benign 0.09
R5906:Pkp4 UTSW 2 59305076 missense possibly damaging 0.79
R5946:Pkp4 UTSW 2 59305067 missense probably benign 0.01
R6360:Pkp4 UTSW 2 59214747 missense probably benign 0.01
R6616:Pkp4 UTSW 2 59350552 nonsense probably null
R6817:Pkp4 UTSW 2 59318600 missense probably damaging 1.00
R7390:Pkp4 UTSW 2 59310140 missense possibly damaging 0.94
R7408:Pkp4 UTSW 2 59311766 missense probably damaging 1.00
R7464:Pkp4 UTSW 2 59308137 missense probably benign 0.12
Posted On2014-05-07