Incidental Mutation 'R1844:Pkp3'
ID 207546
Institutional Source Beutler Lab
Gene Symbol Pkp3
Ensembl Gene ENSMUSG00000054065
Gene Name plakophilin 3
Synonyms 2310056L12Rik
MMRRC Submission 039869-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R1844 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140658202-140670424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140668415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 555 (V555M)
Ref Sequence ENSEMBL: ENSMUSP00000101654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000209199] [ENSMUST00000209294] [ENSMUST00000210167]
AlphaFold Q9QY23
Predicted Effect probably damaging
Transcript: ENSMUST00000066873
AA Change: V530M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: V530M

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: ENSMUST00000097958
SMART Domains Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494

DomainStartEndE-ValueType
IG 17 112 5.21e-2 SMART
transmembrane domain 117 139 N/A INTRINSIC
Pfam:TIR 163 327 2.2e-19 PFAM
Pfam:TIR_2 166 308 2.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106039
AA Change: V555M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: V555M

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 noncoding transcript
Transcript: ENSMUST00000159253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160615
Predicted Effect probably benign
Transcript: ENSMUST00000209199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210941
Predicted Effect probably benign
Transcript: ENSMUST00000209294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161142
Predicted Effect probably benign
Transcript: ENSMUST00000209887
Predicted Effect probably benign
Transcript: ENSMUST00000210167
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,197,566 (GRCm39) K857E probably benign Het
Adam20 A G 8: 41,249,080 (GRCm39) N397D probably benign Het
Adgrf3 T G 5: 30,404,211 (GRCm39) D347A probably damaging Het
Ang6 C T 14: 44,239,330 (GRCm39) E133K possibly damaging Het
Arhgap23 T A 11: 97,354,234 (GRCm39) W205R probably damaging Het
Arhgef40 C A 14: 52,235,080 (GRCm39) R1086S probably damaging Het
Atr G T 9: 95,787,870 (GRCm39) A1488S probably benign Het
Cabin1 A T 10: 75,579,184 (GRCm39) probably null Het
Cby2 C T 14: 75,820,850 (GRCm39) V292I probably benign Het
Cdh22 A C 2: 164,985,614 (GRCm39) F324C probably damaging Het
Cep350 T C 1: 155,724,374 (GRCm39) I3075V probably damaging Het
Chd9 A T 8: 91,683,323 (GRCm39) K588* probably null Het
Clns1a A T 7: 97,346,066 (GRCm39) I44F probably damaging Het
Colgalt1 T C 8: 72,063,995 (GRCm39) I51T possibly damaging Het
Cpt2 C T 4: 107,761,452 (GRCm39) E217K possibly damaging Het
Ctss A G 3: 95,454,105 (GRCm39) probably null Het
Cyp1a1 A G 9: 57,609,980 (GRCm39) T465A probably benign Het
Dbn1 A G 13: 55,629,160 (GRCm39) probably null Het
Dennd1b A G 1: 139,018,143 (GRCm39) probably null Het
Dnajc1 A C 2: 18,298,838 (GRCm39) Y49* probably null Het
Dock10 T A 1: 80,520,918 (GRCm39) I1188L probably damaging Het
Dsg1c T G 18: 20,416,096 (GRCm39) probably null Het
Efcab6 G A 15: 83,851,822 (GRCm39) T352I possibly damaging Het
Eps8l3 T C 3: 107,786,902 (GRCm39) L26P possibly damaging Het
Fbxw26 A G 9: 109,553,946 (GRCm39) V231A probably benign Het
Fetub G A 16: 22,754,419 (GRCm39) E209K possibly damaging Het
Galc A T 12: 98,212,556 (GRCm39) probably null Het
Gm6871 A T 7: 41,222,892 (GRCm39) N65K probably benign Het
Gstp3 A G 19: 4,107,540 (GRCm39) I208T probably benign Het
Gtpbp3 A G 8: 71,945,272 (GRCm39) Y448C probably benign Het
Hdac7 G T 15: 97,705,857 (GRCm39) Q385K probably damaging Het
Hemgn C T 4: 46,396,655 (GRCm39) V194M possibly damaging Het
Idh2 G C 7: 79,748,625 (GRCm39) T113R probably benign Het
Jarid2 A C 13: 45,056,219 (GRCm39) K336T possibly damaging Het
Kcnj4 C T 15: 79,369,216 (GRCm39) V255M probably damaging Het
Ldhb C A 6: 142,439,934 (GRCm39) W202L probably damaging Het
Lmbrd2 T A 15: 9,177,838 (GRCm39) Y512* probably null Het
Lrp1 A G 10: 127,431,152 (GRCm39) probably null Het
Map3k12 G A 15: 102,411,970 (GRCm39) P365S probably damaging Het
Map3k5 G A 10: 19,979,909 (GRCm39) D806N probably benign Het
Matn3 A G 12: 9,017,662 (GRCm39) E438G possibly damaging Het
Mcmbp G A 7: 128,325,698 (GRCm39) L97F probably damaging Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Mphosph8 T C 14: 56,934,616 (GRCm39) V855A probably damaging Het
Mycbp2 T A 14: 103,393,150 (GRCm39) H3027L possibly damaging Het
Nbea C T 3: 55,989,857 (GRCm39) R333H probably damaging Het
Notch1 G T 2: 26,350,446 (GRCm39) H2231Q probably benign Het
Npas2 A T 1: 39,364,456 (GRCm39) H266L probably damaging Het
Oas3 A G 5: 120,898,045 (GRCm39) S833P probably damaging Het
Or1j15 T C 2: 36,458,789 (GRCm39) Y60H probably damaging Het
Or5ak24 T C 2: 85,260,265 (GRCm39) T303A probably benign Het
Or5w17 A C 2: 87,584,334 (GRCm39) M1R probably null Het
Or6c65 G A 10: 129,603,725 (GRCm39) R120H probably benign Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pitpnm1 T C 19: 4,162,395 (GRCm39) V1075A probably damaging Het
Plekhm2 T C 4: 141,359,685 (GRCm39) T381A probably benign Het
Plppr3 A G 10: 79,702,244 (GRCm39) probably null Het
Ppp2r5e A T 12: 75,516,540 (GRCm39) F216I possibly damaging Het
Ppp3ca T A 3: 136,627,672 (GRCm39) V412D probably benign Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Psph A C 5: 129,843,532 (GRCm39) I174R probably damaging Het
Ptov1 A G 7: 44,514,991 (GRCm39) Y207H possibly damaging Het
Ptprs A G 17: 56,741,510 (GRCm39) S585P probably damaging Het
Rnf146 A T 10: 29,223,720 (GRCm39) H55Q probably damaging Het
Rnf213 T A 11: 119,332,009 (GRCm39) M2407K probably damaging Het
Rnls A C 19: 33,179,931 (GRCm39) L55R possibly damaging Het
Rptor T C 11: 119,647,146 (GRCm39) C246R probably damaging Het
Rrp12 C T 19: 41,866,222 (GRCm39) probably null Het
Samd3 A G 10: 26,127,672 (GRCm39) D223G probably damaging Het
Sdad1 G A 5: 92,453,155 (GRCm39) Q68* probably null Het
Selenov G A 7: 27,989,847 (GRCm39) T219M probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Slc26a10 A T 10: 127,014,279 (GRCm39) V245E probably damaging Het
Slit1 A G 19: 41,614,012 (GRCm39) L820P probably damaging Het
Snap23 T C 2: 120,421,163 (GRCm39) F96L probably benign Het
Speer1k T C 5: 10,998,994 (GRCm39) probably benign Het
Spef1l A T 7: 139,556,005 (GRCm39) I212N probably benign Het
Stkld1 A G 2: 26,840,115 (GRCm39) H395R probably damaging Het
Syt13 G A 2: 92,771,165 (GRCm39) G84D probably damaging Het
Terb2 T A 2: 122,016,990 (GRCm39) L37Q probably damaging Het
Themis A G 10: 28,657,753 (GRCm39) Y107C probably damaging Het
Top2a T A 11: 98,906,895 (GRCm39) T249S probably benign Het
Tspo2 A T 17: 48,756,148 (GRCm39) F71Y probably damaging Het
Ttc21b T A 2: 66,053,921 (GRCm39) K753* probably null Het
Ttk A G 9: 83,736,915 (GRCm39) Y458C possibly damaging Het
Ttn T C 2: 76,586,017 (GRCm39) R21905G probably damaging Het
Ugt3a1 T A 15: 9,351,254 (GRCm39) F88I probably benign Het
Vmn1r119 A G 7: 20,746,121 (GRCm39) L87P probably damaging Het
Vmn1r36 A G 6: 66,693,747 (GRCm39) F6L probably benign Het
Vmn2r15 T A 5: 109,434,860 (GRCm39) K615* probably null Het
Wdr18 G A 10: 79,802,561 (GRCm39) probably null Het
Wdr6 A T 9: 108,453,176 (GRCm39) W236R probably damaging Het
Zbtb48 T C 4: 152,110,955 (GRCm39) T187A 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
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
R7650:Pkp3 UTSW 7 140,662,283 (GRCm39) missense probably benign 0.00
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'- TGACACTTCGAGGTTCCCTG -3'
(R):5'- GAGCATCAGTCTGGCACTTC -3'

Sequencing Primer
(F):5'- AGATGCGCGAGTGCCATG -3'
(R):5'- TCTGGCACTTCCGGGTCTG -3'
Posted On 2014-06-23