Incidental Mutation 'IGL02635:Pkp4'
ID 301503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Name plakophilin 4
Synonyms p0071, 5031422I09Rik, Armrp, 9430019K17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02635
Quality Score
Status
Chromosome 2
Chromosomal Location 58991194-59185552 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 59135842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000183359] [ENSMUST00000184332] [ENSMUST00000184705]
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 benign
Transcript: ENSMUST00000102754
SMART Domains Protein: ENSMUSP00000099815
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 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 benign
Transcript: ENSMUST00000123908
SMART Domains Protein: ENSMUSP00000122152
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124725
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
Predicted Effect probably benign
Transcript: ENSMUST00000184332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183625
Predicted Effect probably benign
Transcript: ENSMUST00000184705
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A C 12: 112,381,586 (GRCm39) noncoding transcript Het
Abcc12 C T 8: 87,236,311 (GRCm39) probably benign Het
Akap9 T C 5: 4,120,500 (GRCm39) S3639P possibly damaging Het
Ankar C T 1: 72,691,590 (GRCm39) V1124I possibly damaging Het
AW209491 C T 13: 14,811,852 (GRCm39) A235V possibly damaging Het
Cask A T X: 13,581,009 (GRCm39) D58E probably damaging Het
Cdhr4 T A 9: 107,870,070 (GRCm39) M25K probably benign Het
Clasp2 A G 9: 113,737,910 (GRCm39) I1096V probably damaging Het
Fam234a T A 17: 26,433,427 (GRCm39) I410F possibly damaging Het
Gbe1 T C 16: 70,365,902 (GRCm39) L693P probably damaging Het
Golgb1 G T 16: 36,735,375 (GRCm39) V1541L probably benign Het
Gpr143 G A X: 151,591,257 (GRCm39) E382K probably damaging Het
Gpr171 C T 3: 59,005,017 (GRCm39) V253I probably benign Het
Gsap T A 5: 21,494,814 (GRCm39) W10R probably damaging Het
Hsd17b12 T A 2: 93,913,556 (GRCm39) D116V possibly damaging Het
Ifih1 A T 2: 62,442,173 (GRCm39) L348Q probably damaging Het
Ighv1-50 G A 12: 115,083,615 (GRCm39) A35V probably benign Het
Lrcol1 A C 5: 110,502,459 (GRCm39) M112L probably benign Het
Lrrc59 T A 11: 94,534,282 (GRCm39) V280E probably damaging Het
Med17 A T 9: 15,185,845 (GRCm39) I223K probably damaging Het
Oog3 T C 4: 143,884,715 (GRCm39) N407S probably damaging Het
Or4e1 T C 14: 52,701,251 (GRCm39) I72V probably damaging Het
Pear1 T C 3: 87,657,453 (GRCm39) *1035W probably null Het
Pkd1 T A 17: 24,791,785 (GRCm39) F1157L probably damaging Het
Ppl T C 16: 4,907,631 (GRCm39) E888G probably benign Het
Prh1 G A 6: 132,549,246 (GRCm39) G251E unknown Het
Prkar2a A G 9: 108,605,476 (GRCm39) E178G probably damaging Het
Rfx6 A T 10: 51,592,122 (GRCm39) T352S possibly damaging Het
S1pr1 T C 3: 115,505,739 (GRCm39) K285R probably benign Het
Slc12a1 A G 2: 125,067,898 (GRCm39) H995R probably benign Het
Slc25a54 T A 3: 109,020,133 (GRCm39) N382K possibly damaging Het
Snrnp48 T G 13: 38,393,845 (GRCm39) probably benign Het
Spg11 T C 2: 121,943,549 (GRCm39) D201G possibly damaging Het
Stox1 T C 10: 62,500,685 (GRCm39) D625G probably benign Het
Supt6 T C 11: 78,103,565 (GRCm39) H1380R probably damaging Het
Tcp1 T A 17: 13,142,296 (GRCm39) M430K probably benign Het
Tlr12 A T 4: 128,510,609 (GRCm39) V547E probably damaging Het
Tmem255b G T 8: 13,505,195 (GRCm39) D167Y probably damaging Het
Trpc7 T C 13: 56,923,981 (GRCm39) R735G probably damaging Het
Trpm1 A G 7: 63,848,972 (GRCm39) T73A probably benign Het
Ubr3 A T 2: 69,850,827 (GRCm39) L1748F probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Ybx1 T C 4: 119,136,286 (GRCm39) N282S possibly damaging Het
Zdhhc12 T A 2: 29,983,531 (GRCm39) I24F probably 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
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
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
Posted On 2015-04-16