Incidental Mutation 'IGL01367:Pkp3'
ID 75969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkp3
Ensembl Gene ENSMUSG00000054065
Gene Name plakophilin 3
Synonyms 2310056L12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL01367
Quality Score
Status
Chromosome 7
Chromosomal Location 140658202-140670424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140663989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 389 (P389S)
Ref Sequence ENSEMBL: ENSMUSP00000101654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000106039] [ENSMUST00000159375] [ENSMUST00000163041] [ENSMUST00000160869]
AlphaFold Q9QY23
Predicted Effect possibly damaging
Transcript: ENSMUST00000066873
AA Change: P364S

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065
AA Change: P364S

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 damaging
Transcript: ENSMUST00000106039
AA Change: P389S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: P389S

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 probably benign
Transcript: ENSMUST00000159375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160615
Predicted Effect probably benign
Transcript: ENSMUST00000163041
SMART Domains Protein: ENSMUSP00000124434
Gene: ENSMUSG00000054065

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
Predicted Effect probably benign
Transcript: ENSMUST00000160869
SMART Domains Protein: ENSMUSP00000124013
Gene: ENSMUSG00000054065

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,404,843 (GRCm39) V20A possibly damaging Het
Alk T C 17: 72,207,781 (GRCm39) I985V probably damaging Het
Anapc2 A C 2: 25,164,794 (GRCm39) R59S possibly damaging Het
Ankhd1 T A 18: 36,711,696 (GRCm39) D165E probably benign Het
Asb8 A T 15: 98,034,054 (GRCm39) V167D probably damaging Het
Atp5pf A G 16: 84,625,360 (GRCm39) M81T probably benign Het
Bcl7b A G 5: 135,208,950 (GRCm39) T138A probably damaging Het
Cdh23 A G 10: 60,146,566 (GRCm39) L2869P probably damaging Het
Chl1 T C 6: 103,706,186 (GRCm39) S1174P probably benign Het
Clec2g T C 6: 128,925,699 (GRCm39) I36T unknown Het
Denr A G 5: 124,046,182 (GRCm39) D4G probably benign Het
Dnajc10 T C 2: 80,155,096 (GRCm39) probably benign Het
Egf C T 3: 129,496,104 (GRCm39) probably null Het
Galnt10 A C 11: 57,616,409 (GRCm39) Y108S probably damaging Het
Gls C T 1: 52,207,558 (GRCm39) G602D probably damaging Het
Grb10 G T 11: 11,895,599 (GRCm39) Q242K probably damaging Het
Hspg2 A T 4: 137,265,800 (GRCm39) Y1837F probably damaging Het
Ikzf1 G T 11: 11,698,358 (GRCm39) A70S probably benign Het
Il17ra T C 6: 120,458,426 (GRCm39) Y526H probably damaging Het
Il34 A T 8: 111,469,375 (GRCm39) I186N possibly damaging Het
Iqca1 G A 1: 89,998,350 (GRCm39) probably benign Het
Kntc1 A G 5: 123,896,546 (GRCm39) Y136C probably damaging Het
Man2b2 A T 5: 36,971,681 (GRCm39) Y257* probably null Het
Map3k19 A G 1: 127,752,088 (GRCm39) F421S possibly damaging Het
Melk A G 4: 44,332,907 (GRCm39) T288A possibly damaging Het
Mpp2 T C 11: 101,954,135 (GRCm39) E187G probably damaging Het
Mtf2 A G 5: 108,252,323 (GRCm39) T394A probably benign Het
Neil2 A G 14: 63,429,177 (GRCm39) S39P probably damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Pcdh7 A G 5: 58,286,566 (GRCm39) E1214G possibly damaging Het
Pcdhb17 G T 18: 37,620,548 (GRCm39) Q779H probably benign Het
Pik3c2b A G 1: 133,033,726 (GRCm39) I1577V probably benign Het
Ppp4r2 T A 6: 100,841,706 (GRCm39) Y92* probably null Het
Rnf13 T C 3: 57,714,508 (GRCm39) I189T probably benign Het
Serpinf2 T C 11: 75,328,871 (GRCm39) D53G probably benign Het
Slc47a2 T A 11: 61,220,607 (GRCm39) T184S probably benign Het
Sned1 T C 1: 93,210,936 (GRCm39) I1008T probably benign Het
Sorcs3 A T 19: 48,784,814 (GRCm39) E1079V probably damaging Het
Trappc8 G A 18: 20,999,176 (GRCm39) S318L probably benign Het
Trappc9 A G 15: 72,462,002 (GRCm39) S909P probably benign Het
Ttn G A 2: 76,560,483 (GRCm39) T29306I probably damaging Het
Twnk G A 19: 45,000,090 (GRCm39) R602Q possibly damaging Het
Vmn2r15 A T 5: 109,441,075 (GRCm39) I261K probably damaging Het
Vmn2r77 G A 7: 86,461,124 (GRCm39) A817T probably damaging Het
Other mutations in Pkp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Pkp3 APN 7 140,664,095 (GRCm39) nonsense probably null
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
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
Posted On 2013-10-07