Incidental Mutation 'R7650:Pkp3'
ID 590759
Institutional Source Beutler Lab
Gene Symbol Pkp3
Ensembl Gene ENSMUSG00000054065
Gene Name plakophilin 3
Synonyms 2310056L12Rik
MMRRC Submission 045727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7650 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140658202-140670424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140662283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 112 (M112I)
Ref Sequence ENSEMBL: ENSMUSP00000101654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000106039] [ENSMUST00000159375] [ENSMUST00000160869] [ENSMUST00000163041]
AlphaFold Q9QY23
Predicted Effect probably benign
Transcript: ENSMUST00000066873
AA Change: M87I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: M87I

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 179 194 N/A INTRINSIC
low complexity region 219 228 N/A INTRINSIC
ARM 350 390 8.11e-5 SMART
ARM 392 432 3.24e-4 SMART
ARM 489 536 3.85e0 SMART
internal_repeat_1 605 702 2.91e-9 PROSPERO
low complexity region 717 731 N/A INTRINSIC
low complexity region 757 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106039
AA Change: M112I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: M112I

DomainStartEndE-ValueType
low complexity region 65 79 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 204 219 N/A INTRINSIC
low complexity region 244 253 N/A INTRINSIC
ARM 375 415 8.11e-5 SMART
ARM 417 457 3.24e-4 SMART
ARM 514 561 3.85e0 SMART
internal_repeat_1 630 727 4.99e-9 PROSPERO
low complexity region 742 756 N/A INTRINSIC
low complexity region 782 799 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159375
AA Change: M9I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000160869
SMART Domains Protein: ENSMUSP00000124013
Gene: ENSMUSG00000054065

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163041
AA Change: M9I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124434
Gene: ENSMUSG00000054065
AA Change: M9I

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
low complexity region 141 150 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik G A 7: 30,399,214 (GRCm39) V3I probably benign Het
Adam33 T C 2: 130,903,067 (GRCm39) E59G probably damaging Het
Akap13 T A 7: 75,293,202 (GRCm39) V45E probably benign Het
Ap1s1 A G 5: 137,074,387 (GRCm39) S28P probably benign Het
Btnl2 T C 17: 34,577,103 (GRCm39) L86P probably damaging Het
Carm1 G A 9: 21,491,668 (GRCm39) V246I probably benign Het
Cdk5rap1 C T 2: 154,196,036 (GRCm39) D283N probably benign Het
Cfap58 C A 19: 47,974,967 (GRCm39) N709K possibly damaging Het
Col24a1 A G 3: 145,020,214 (GRCm39) D195G probably benign Het
Dcaf1 A G 9: 106,715,543 (GRCm39) D220G probably benign Het
Ddias C T 7: 92,508,143 (GRCm39) G591R probably benign Het
Defb22 A T 2: 152,328,023 (GRCm39) I54K probably benign Het
Dennd4b G A 3: 90,176,056 (GRCm39) W202* probably null Het
F2 T C 2: 91,458,741 (GRCm39) N523S possibly damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fanca A T 8: 123,995,303 (GRCm39) probably null Het
Fezf2 T C 14: 12,342,653 (GRCm38) H404R probably damaging Het
Fry A G 5: 150,336,883 (GRCm39) N1418S probably damaging Het
Gak A G 5: 108,732,161 (GRCm39) S776P probably benign Het
Gbf1 A G 19: 46,260,978 (GRCm39) H1181R probably damaging Het
Gdf9 G A 11: 53,327,925 (GRCm39) E294K probably benign Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm8206 T C 14: 6,055,211 (GRCm38) probably null Het
Gpr162 T A 6: 124,838,806 (GRCm39) probably benign Het
Gxylt1 C T 15: 93,143,539 (GRCm39) R363H probably benign Het
Hnrnph1 A T 11: 50,274,726 (GRCm39) M396L probably benign Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Ice1 T A 13: 70,753,602 (GRCm39) Q828L probably damaging Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Il10 A T 1: 130,949,192 (GRCm39) T118S probably benign Het
Itpr2 C T 6: 146,135,492 (GRCm39) R1813Q probably benign Het
Kbtbd12 T A 6: 88,595,530 (GRCm39) Q100L probably damaging Het
Kin A G 2: 10,096,979 (GRCm39) D276G possibly damaging Het
Klhl1 T C 14: 96,584,379 (GRCm39) T284A probably damaging Het
Kmt2d C T 15: 98,748,751 (GRCm39) A2858T unknown Het
Krt8 G A 15: 101,912,598 (GRCm39) T26M probably benign Het
Lama3 T A 18: 12,670,895 (GRCm39) M827K probably benign Het
Lingo3 T C 10: 80,671,597 (GRCm39) N111S probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Metap1 A G 3: 138,172,128 (GRCm39) V263A probably damaging Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Muc5ac A G 7: 141,363,159 (GRCm39) T2157A unknown Het
Myo1d G T 11: 80,492,510 (GRCm39) H748Q probably benign Het
Nfkbiz A T 16: 55,638,202 (GRCm39) N419K probably benign Het
Nol10 T C 12: 17,412,683 (GRCm39) probably null Het
Nrcam T C 12: 44,594,105 (GRCm39) L284P probably damaging Het
Nrp1 T A 8: 129,224,495 (GRCm39) W753R possibly damaging Het
Obscn A G 11: 58,951,820 (GRCm39) S3978P probably benign Het
Opa3 C A 7: 18,978,896 (GRCm39) N120K probably benign Het
Or5k17 T A 16: 58,746,416 (GRCm39) R173* probably null Het
Or8g53 A T 9: 39,683,169 (GRCm39) F309Y probably benign Het
Pabpc1l T C 2: 163,891,510 (GRCm39) L576S probably benign Het
Panx3 A G 9: 37,572,701 (GRCm39) L283S probably damaging Het
Pcdhb4 T A 18: 37,442,667 (GRCm39) V659E probably damaging Het
Pde4dip A T 3: 97,606,423 (GRCm39) probably null Het
Pkd1l3 T C 8: 110,399,217 (GRCm39) V2200A probably benign Het
Prex2 T C 1: 11,220,078 (GRCm39) I683T possibly damaging Het
Psg22 C A 7: 18,460,684 (GRCm39) Q438K possibly damaging Het
Ptgir T C 7: 16,640,876 (GRCm39) V56A possibly damaging Het
Pus7 G T 5: 23,965,244 (GRCm39) T304K probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Ros1 C T 10: 51,922,305 (GRCm39) G2277D probably benign Het
Rpain A T 11: 70,861,271 (GRCm39) probably benign Het
Shh C A 5: 28,663,304 (GRCm39) S288I probably benign Het
Slc26a5 C T 5: 22,039,328 (GRCm39) V259M possibly damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Slit1 T A 19: 41,618,363 (GRCm39) N771I probably damaging Het
Stim1 T A 7: 102,078,034 (GRCm39) S179T Het
Syk A G 13: 52,765,131 (GRCm39) D86G probably benign Het
Tmem132b T G 5: 125,864,074 (GRCm39) S727A probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Trpm6 A T 19: 18,853,377 (GRCm39) D1799V possibly damaging Het
Ube4a A T 9: 44,844,734 (GRCm39) I839N probably damaging Het
Ugt2b36 A G 5: 87,228,831 (GRCm39) I404T probably damaging Het
Ushbp1 T A 8: 71,843,568 (GRCm39) Q290L possibly damaging Het
Vcl T A 14: 21,045,114 (GRCm39) I273K probably damaging Het
Vmn2r73 T A 7: 85,521,147 (GRCm39) I274L probably benign Het
Zc3h7b A G 15: 81,677,851 (GRCm39) D945G possibly damaging Het
Zfp454 A G 11: 50,774,580 (GRCm39) L31P probably damaging Het
Zfp536 C A 7: 37,269,117 (GRCm39) V100L probably damaging Het
Zfp942 A T 17: 22,147,818 (GRCm39) S270R probably benign Het
Other mutations in Pkp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Pkp3 APN 7 140,664,095 (GRCm39) nonsense probably null
IGL01367:Pkp3 APN 7 140,663,989 (GRCm39) missense probably damaging 1.00
IGL01793:Pkp3 APN 7 140,668,817 (GRCm39) missense probably benign 0.01
IGL02140:Pkp3 APN 7 140,669,249 (GRCm39) missense probably damaging 1.00
IGL02231:Pkp3 APN 7 140,664,151 (GRCm39) missense probably damaging 1.00
IGL02708:Pkp3 APN 7 140,669,681 (GRCm39) unclassified probably benign
IGL02755:Pkp3 APN 7 140,668,318 (GRCm39) splice site probably null
IGL03017:Pkp3 APN 7 140,663,283 (GRCm39) missense probably benign 0.12
IGL03351:Pkp3 APN 7 140,662,606 (GRCm39) missense probably benign
PIT4514001:Pkp3 UTSW 7 140,669,623 (GRCm39) missense probably damaging 0.99
R0145:Pkp3 UTSW 7 140,669,676 (GRCm39) critical splice donor site probably null
R0153:Pkp3 UTSW 7 140,663,256 (GRCm39) missense probably damaging 1.00
R0184:Pkp3 UTSW 7 140,668,280 (GRCm39) missense probably benign 0.41
R1014:Pkp3 UTSW 7 140,662,739 (GRCm39) missense probably benign 0.03
R1664:Pkp3 UTSW 7 140,667,560 (GRCm39) missense probably damaging 1.00
R1844:Pkp3 UTSW 7 140,668,415 (GRCm39) missense probably damaging 1.00
R1891:Pkp3 UTSW 7 140,663,969 (GRCm39) splice site probably null
R2100:Pkp3 UTSW 7 140,663,205 (GRCm39) missense probably damaging 1.00
R3772:Pkp3 UTSW 7 140,662,259 (GRCm39) start codon destroyed probably null
R4003:Pkp3 UTSW 7 140,668,650 (GRCm39) critical splice acceptor site probably null
R4089:Pkp3 UTSW 7 140,664,056 (GRCm39) missense probably damaging 1.00
R4670:Pkp3 UTSW 7 140,662,612 (GRCm39) missense probably benign 0.00
R5266:Pkp3 UTSW 7 140,663,190 (GRCm39) missense probably damaging 1.00
R5619:Pkp3 UTSW 7 140,668,419 (GRCm39) missense probably damaging 1.00
R6113:Pkp3 UTSW 7 140,662,569 (GRCm39) missense probably damaging 0.97
R6820:Pkp3 UTSW 7 140,659,757 (GRCm39) critical splice donor site probably null
R7662:Pkp3 UTSW 7 140,658,292 (GRCm39) missense probably benign 0.03
R8087:Pkp3 UTSW 7 140,667,551 (GRCm39) missense possibly damaging 0.56
R8335:Pkp3 UTSW 7 140,667,669 (GRCm39) missense probably damaging 1.00
R9525:Pkp3 UTSW 7 140,668,310 (GRCm39) missense probably damaging 1.00
X0028:Pkp3 UTSW 7 140,669,861 (GRCm39) splice site probably null
Z1177:Pkp3 UTSW 7 140,662,648 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGATCTACCAGAACAGACTG -3'
(R):5'- CACAGTGAAGGGGTATCTGG -3'

Sequencing Primer
(F):5'- GGTTAGCTCCCAAACTGACTTGG -3'
(R):5'- ATCTGGGGTTTACCTGGCACC -3'
Posted On 2019-10-24