Incidental Mutation 'R5418:Pkp4'
ID 427828
Institutional Source Beutler Lab
Gene Symbol Pkp4
Ensembl Gene ENSMUSG00000026991
Gene Name plakophilin 4
Synonyms p0071, 5031422I09Rik, Armrp, 9430019K17Rik
MMRRC Submission 042986-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5418 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 58991194-59185552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59140506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 404 (V404A)
Ref Sequence ENSEMBL: ENSMUSP00000122152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037903] [ENSMUST00000102754] [ENSMUST00000112577] [ENSMUST00000123908] [ENSMUST00000168631] [ENSMUST00000184332] [ENSMUST00000183359] [ENSMUST00000184705]
AlphaFold Q68FH0
Predicted Effect probably benign
Transcript: ENSMUST00000037903
AA Change: V404A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000042249
Gene: ENSMUSG00000026991
AA Change: V404A

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
AA Change: V404A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099815
Gene: ENSMUSG00000026991
AA Change: V404A

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
AA Change: V63A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108196
Gene: ENSMUSG00000026991
AA Change: V63A

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
AA Change: V404A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122152
Gene: ENSMUSG00000026991
AA Change: V404A

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
AA Change: V404A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000129836
Gene: ENSMUSG00000026991
AA Change: V404A

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: ENSMUST00000184332
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: ENSMUST00000184705
Meta Mutation Damage Score 0.0860 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (81/82)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,244,738 (GRCm39) S205P probably damaging Het
Abcc1 T C 16: 14,278,996 (GRCm39) V1102A probably benign Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Acoxl T A 2: 127,719,722 (GRCm39) M161K probably benign Het
Adamts4 T A 1: 171,080,143 (GRCm39) V35E probably damaging Het
Add2 A G 6: 86,087,894 (GRCm39) S614G probably benign Het
Adgrv1 T A 13: 81,567,427 (GRCm39) I5249L probably benign Het
Agps A G 2: 75,689,248 (GRCm39) T252A probably damaging Het
Alms1-ps1 G A 6: 85,732,584 (GRCm39) noncoding transcript Het
Ankrd24 T A 10: 81,480,776 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,733 (GRCm39) Q218R possibly damaging Het
Bin2 T C 15: 100,547,027 (GRCm39) Y232C probably damaging Het
Bptf A G 11: 107,002,120 (GRCm39) Y331H probably damaging Het
Ccr10 C T 11: 101,064,904 (GRCm39) V209M probably benign Het
Cflar A T 1: 58,791,810 (GRCm39) D371V possibly damaging Het
Col1a2 A G 6: 4,516,931 (GRCm39) probably benign Het
Crlf2 A G 5: 109,704,899 (GRCm39) V104A probably benign Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dmxl2 A G 9: 54,281,935 (GRCm39) probably null Het
Dnah17 C A 11: 117,985,810 (GRCm39) E1422D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Efcab11 A G 12: 99,821,877 (GRCm39) L80S possibly damaging Het
Emc8 G A 8: 121,385,342 (GRCm39) T130M probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Erc2 A G 14: 27,688,467 (GRCm39) M196V probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fam120b C T 17: 15,622,061 (GRCm39) T13M probably damaging Het
Fam234b A G 6: 135,203,966 (GRCm39) K423E probably benign Het
Fcgbp G A 7: 27,784,738 (GRCm39) G266D probably damaging Het
Fndc4 A T 5: 31,451,978 (GRCm39) S146R probably benign Het
Frmd3 G A 4: 74,079,935 (GRCm39) probably null Het
Glrx2 C A 1: 143,615,446 (GRCm39) S16R possibly damaging Het
Gm26526 T G 7: 39,238,358 (GRCm39) noncoding transcript Het
Hc C T 2: 34,898,195 (GRCm39) probably null Het
Herc2 T C 7: 55,787,313 (GRCm39) C1695R probably damaging Het
Hic1 A G 11: 75,057,425 (GRCm39) probably null Het
Igkv4-92 A T 6: 68,732,564 (GRCm39) V5E possibly damaging Het
Irs1 G A 1: 82,266,491 (GRCm39) T575I probably damaging Het
Kcp A T 6: 29,504,283 (GRCm39) Y143* probably null Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klra6 T A 6: 129,990,393 (GRCm39) L239F probably damaging Het
Lhx6 A G 2: 35,977,378 (GRCm39) probably null Het
Lrrc34 G A 3: 30,696,923 (GRCm39) P116S possibly damaging Het
Map3k9 T A 12: 81,790,591 (GRCm39) K321* probably null Het
Mapk14 T C 17: 28,960,817 (GRCm39) V196A possibly damaging Het
Matcap2 G T 9: 22,343,066 (GRCm39) R187L probably damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mtmr12 T C 15: 12,270,045 (GRCm39) L711P probably damaging Het
Mylk T C 16: 34,732,600 (GRCm39) S627P probably benign Het
Nbea A T 3: 55,553,410 (GRCm39) Y2631N possibly damaging Het
Ncoa7 A G 10: 30,524,035 (GRCm39) V153A probably damaging Het
Or4a79 T C 2: 89,552,343 (GRCm39) I37M probably benign Het
Pax6 A T 2: 105,521,910 (GRCm39) D175V probably benign Het
Piezo1 A G 8: 123,213,519 (GRCm39) L1793P probably damaging Het
Plxnb2 A G 15: 89,050,694 (GRCm39) Y421H probably benign Het
Prkdc T G 16: 15,612,961 (GRCm39) V3173G probably benign Het
Prss40 A T 1: 34,599,840 (GRCm39) I49N probably benign Het
Prx T A 7: 27,216,699 (GRCm39) V400E probably damaging Het
Rbm11 A C 16: 75,393,423 (GRCm39) T40P probably damaging Het
Resf1 T C 6: 149,227,634 (GRCm39) Y227H probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sema3f A G 9: 107,569,820 (GRCm39) Y70H probably damaging Het
Senp6 G A 9: 80,029,151 (GRCm39) E505K possibly damaging Het
Slc25a3 T C 10: 90,955,398 (GRCm39) I147M probably benign Het
Slc4a7 T A 14: 14,760,280 (GRCm38) S572T probably benign Het
Smarcal1 C T 1: 72,638,068 (GRCm39) P501S probably benign Het
Sox7 C T 14: 64,185,396 (GRCm39) T144M probably benign Het
Taar1 T C 10: 23,797,214 (GRCm39) F304S possibly damaging Het
Tcf3 A G 10: 80,263,517 (GRCm39) F46L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tpcn2 C T 7: 144,832,518 (GRCm39) E113K probably damaging Het
Vmn1r232 T A 17: 21,134,378 (GRCm39) Y74F possibly damaging Het
Vmn2r102 C T 17: 19,914,415 (GRCm39) T660I probably damaging Het
Zdhhc3 A G 9: 122,909,456 (GRCm39) M234T probably damaging Het
Zfp960 T A 17: 17,307,805 (GRCm39) L173H 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
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
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'- AGAGTCCTTTTCATACCAGGCC -3'
(R):5'- AAAATCTCTTTCCTGTTGGGCC -3'

Sequencing Primer
(F):5'- AGGCCTTCCTTCTGTAAAACTTGAG -3'
(R):5'- CCTGTTGGGCCAAGGAGATG -3'
Posted On 2016-09-01