Incidental Mutation 'R5383:Pkp4'
ID 424829
Institutional Source Beutler Lab
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Name plakophilin 4
Synonyms p0071, 5031422I09Rik, Armrp, 9430019K17Rik
MMRRC Submission 042958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5383 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 58991194-59185552 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 59140617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 441 (L441*)
Ref Sequence ENSEMBL: ENSMUSP00000129836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000184705] [ENSMUST00000183359] [ENSMUST00000184332]
AlphaFold Q68FH0
Predicted Effect probably null
Transcript: ENSMUST00000037903
AA Change: L441*
SMART Domains Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: L441*

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: L441*
SMART Domains Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: L441*

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: L100*
SMART Domains Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: L100*

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: L441*
SMART Domains Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: L441*

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: L441*
SMART Domains Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: L441*

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: ENSMUST00000184705
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
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,211,532 (GRCm39) Y227F possibly damaging Het
Aadac T C 3: 59,943,496 (GRCm39) probably benign Het
Abl2 G A 1: 156,469,802 (GRCm39) G918E possibly damaging Het
Acvr1c T C 2: 58,177,747 (GRCm39) T241A probably damaging Het
Adck1 T C 12: 88,422,373 (GRCm39) V328A probably benign Het
Ano6 A G 15: 95,813,918 (GRCm39) I279V probably benign Het
AW551984 T A 9: 39,501,994 (GRCm39) Y704F probably benign Het
C1s1 T C 6: 124,511,360 (GRCm39) D321G probably damaging Het
Cacna1d T A 14: 29,767,236 (GRCm39) D1910V possibly damaging Het
Cdh5 A G 8: 104,864,479 (GRCm39) Q480R probably benign Het
Cdhr1 C T 14: 36,810,964 (GRCm39) V266M possibly damaging Het
Cdk5rap1 A T 2: 154,192,755 (GRCm39) V414D possibly damaging Het
Ctdnep1 T A 11: 69,875,222 (GRCm39) probably benign Het
Cyfip2 T C 11: 46,168,918 (GRCm39) M212V possibly damaging Het
D130043K22Rik G A 13: 25,041,397 (GRCm39) S273N probably benign Het
Ddi2 A G 4: 141,412,163 (GRCm39) S250P probably damaging Het
Dennd1b A G 1: 139,095,409 (GRCm39) T486A probably benign Het
Disc1 A G 8: 125,862,196 (GRCm39) T523A probably damaging Het
Dmbx1 A G 4: 115,775,342 (GRCm39) S313P probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnah11 T C 12: 118,049,432 (GRCm39) E1664G probably damaging Het
Dpysl3 A T 18: 43,571,103 (GRCm39) V57E probably damaging Het
Fam98a C T 17: 75,845,576 (GRCm39) G390E unknown Het
Hook3 C A 8: 26,609,017 (GRCm39) R9L probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Impg2 A G 16: 56,063,989 (GRCm39) D298G probably benign Het
Inf2 T A 12: 112,566,579 (GRCm39) V48D probably damaging Het
Itprid1 T A 6: 55,955,275 (GRCm39) L961H probably benign Het
Kcnh1 G A 1: 192,187,999 (GRCm39) G820D probably benign Het
Lsm14a C T 7: 34,088,789 (GRCm39) A39T possibly damaging Het
Muc2 T C 7: 141,307,456 (GRCm39) C804R probably damaging Het
Nim1k C T 13: 120,189,335 (GRCm39) V25M probably benign Het
Or11g25 T A 14: 50,723,509 (GRCm39) L198* probably null Het
Or4a73 T C 2: 89,421,457 (GRCm39) M1V probably null Het
Or5b122 T A 19: 13,563,439 (GRCm39) M257K probably damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf8-ps T C 17: 33,284,231 (GRCm39) D857G probably benign Het
Pitrm1 T A 13: 6,627,468 (GRCm39) H856Q probably damaging Het
Pkd1 T C 17: 24,793,349 (GRCm39) C1679R probably benign Het
Ppp4r4 T C 12: 103,550,427 (GRCm39) F284L probably benign Het
Ptprt T A 2: 161,539,969 (GRCm39) K769M probably damaging Het
Rbm12 G T 2: 155,945,285 (GRCm39) probably benign Het
Rpf1 T C 3: 146,225,146 (GRCm39) D94G possibly damaging Het
Scap G T 9: 110,203,597 (GRCm39) K310N probably damaging Het
Smpd2 C T 10: 41,364,698 (GRCm39) probably benign Het
Sp110 TC TCC 1: 85,519,290 (GRCm39) probably null Het
Specc1l T A 10: 75,082,539 (GRCm39) I662N possibly damaging Het
Sptan1 T A 2: 29,901,340 (GRCm39) V1496D probably damaging Het
Srrm4 T C 5: 116,609,319 (GRCm39) probably benign Het
Taf2 A G 15: 54,912,815 (GRCm39) I515T possibly damaging Het
Tdrd3 C T 14: 87,718,227 (GRCm39) Q203* probably null Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Tmem43 G A 6: 91,450,872 (GRCm39) A2T probably benign Het
Trav9-1 T A 14: 53,725,833 (GRCm39) I49N probably benign Het
Trim23 T G 13: 104,335,205 (GRCm39) N410K probably damaging Het
Ttbk1 T C 17: 46,778,342 (GRCm39) T567A probably damaging Het
Unc79 A G 12: 103,070,886 (GRCm39) N1081S possibly damaging Het
Zfp451 A C 1: 33,852,887 (GRCm39) I9R probably damaging Het
Zfp563 T A 17: 33,323,681 (GRCm39) M92K probably benign Het
Zfp618 G A 4: 63,013,729 (GRCm39) G198D probably benign Het
Zfp637 G T 6: 117,820,270 (GRCm39) 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
R4913:Pkp4 UTSW 2 59,135,794 (GRCm39) missense probably damaging 1.00
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'- TACGGAGTTCCTATGCCAGTC -3'
(R):5'- ACAGCATAATTCCTACCTTCATTGG -3'

Sequencing Primer
(F):5'- CAGTCAGCATAGTCAGCTTGG -3'
(R):5'- TACCCCTAAGTATGTGCTAAACG -3'
Posted On 2016-08-04