Incidental Mutation 'IGL02140:Pkp3'
ID281492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkp3
Ensembl Gene ENSMUSG00000054065
Gene Nameplakophilin 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02140
Quality Score
Status
Chromosome7
Chromosomal Location141078218-141090510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 141089336 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 697 (L697R)
Ref Sequence ENSEMBL: ENSMUSP00000101654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000209199] [ENSMUST00000209294] [ENSMUST00000209352] [ENSMUST00000210167]
Predicted Effect probably damaging
Transcript: ENSMUST00000066873
AA Change: L672R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: L672R

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: L697R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: L697R

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 noncoding transcript
Transcript: ENSMUST00000161142
Predicted Effect probably benign
Transcript: ENSMUST00000209199
Predicted Effect probably benign
Transcript: ENSMUST00000209294
Predicted Effect probably benign
Transcript: ENSMUST00000209352
Predicted Effect probably benign
Transcript: ENSMUST00000209887
Predicted Effect probably benign
Transcript: ENSMUST00000210167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
B3gat1 A G 9: 26,757,747 K325E possibly damaging Het
Cd36 T A 5: 17,828,768 probably benign Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Defa27 A T 8: 21,315,658 K13* probably null Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Nup37 A C 10: 88,158,929 K118T probably benign Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 D178G probably benign Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Timd4 T A 11: 46,820,014 S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in Pkp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Pkp3 APN 7 141084182 nonsense probably null
IGL01367:Pkp3 APN 7 141084076 missense probably damaging 1.00
IGL01793:Pkp3 APN 7 141088904 missense probably benign 0.01
IGL02231:Pkp3 APN 7 141084238 missense probably damaging 1.00
IGL02708:Pkp3 APN 7 141089768 unclassified probably benign
IGL02755:Pkp3 APN 7 141088405 splice site probably null
IGL03017:Pkp3 APN 7 141083370 missense probably benign 0.12
IGL03351:Pkp3 APN 7 141082693 missense probably benign
PIT4514001:Pkp3 UTSW 7 141089710 missense probably damaging 0.99
R0145:Pkp3 UTSW 7 141089763 critical splice donor site probably null
R0153:Pkp3 UTSW 7 141083343 missense probably damaging 1.00
R0184:Pkp3 UTSW 7 141088367 missense probably benign 0.41
R1014:Pkp3 UTSW 7 141082826 missense probably benign 0.03
R1664:Pkp3 UTSW 7 141087647 missense probably damaging 1.00
R1844:Pkp3 UTSW 7 141088502 missense probably damaging 1.00
R1891:Pkp3 UTSW 7 141084056 unclassified probably null
R2100:Pkp3 UTSW 7 141083292 missense probably damaging 1.00
R3772:Pkp3 UTSW 7 141082346 start codon destroyed probably null
R4003:Pkp3 UTSW 7 141088737 critical splice acceptor site probably null
R4089:Pkp3 UTSW 7 141084143 missense probably damaging 1.00
R4670:Pkp3 UTSW 7 141082699 missense probably benign 0.00
R5266:Pkp3 UTSW 7 141083277 missense probably damaging 1.00
R5619:Pkp3 UTSW 7 141088506 missense probably damaging 1.00
R6113:Pkp3 UTSW 7 141082656 missense probably damaging 0.97
R6820:Pkp3 UTSW 7 141079844 critical splice donor site probably null
R7650:Pkp3 UTSW 7 141082370 missense probably benign 0.00
R7662:Pkp3 UTSW 7 141078379 missense probably benign 0.03
R8087:Pkp3 UTSW 7 141087638 missense possibly damaging 0.56
X0028:Pkp3 UTSW 7 141089948 splice site probably null
Z1177:Pkp3 UTSW 7 141082735 missense probably damaging 1.00
Posted On2015-04-16