Incidental Mutation 'R7662:Pkp3'
ID 591637
Institutional Source Beutler Lab
Gene Symbol Pkp3
Ensembl Gene ENSMUSG00000054065
Gene Name plakophilin 3
Synonyms 2310056L12Rik
MMRRC Submission 045737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7662 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140658202-140670424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140658292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 19 (T19I)
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
SMART Domains Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065

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: T19I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065
AA Change: T19I

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
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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,885,999 (GRCm39) S48L probably benign Het
Abi3bp A G 16: 56,437,686 (GRCm39) probably null Het
Adss1 T A 12: 112,606,172 (GRCm39) V456E probably damaging Het
Aimp1 A T 3: 132,379,827 (GRCm39) V105E probably benign Het
Ankrd6 G A 4: 32,818,694 (GRCm39) R270C probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asb15 T A 6: 24,566,089 (GRCm39) D347E probably benign Het
Axin2 T A 11: 108,833,282 (GRCm39) L489Q possibly damaging Het
Baiap2l1 G A 5: 144,294,700 (GRCm39) probably benign Het
Cdc6 T A 11: 98,801,438 (GRCm39) N194K possibly damaging Het
Cdc6 T C 11: 98,807,836 (GRCm39) L443P probably benign Het
Celf2 C A 2: 6,558,728 (GRCm39) G393C probably damaging Het
Cep290 T A 10: 100,373,665 (GRCm39) M1315K probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cntn5 A T 9: 9,661,390 (GRCm39) M887K probably benign Het
Col17a1 T C 19: 47,669,940 (GRCm39) I71V probably benign Het
Crot T C 5: 9,019,072 (GRCm39) M494V probably damaging Het
Ctnna2 A T 6: 77,613,852 (GRCm39) V246D probably damaging Het
Cyb5r4 A G 9: 86,909,091 (GRCm39) E56G possibly damaging Het
Dennd2a A G 6: 39,470,037 (GRCm39) Y552H probably benign Het
Dennd4a A G 9: 64,759,713 (GRCm39) I273V probably damaging Het
Dkk2 A G 3: 131,883,629 (GRCm39) probably null Het
Dnaja2 A C 8: 86,265,905 (GRCm39) D393E probably benign Het
Dscc1 T A 15: 54,939,561 (GRCm39) I461F possibly damaging Het
Dspp A T 5: 104,325,736 (GRCm39) S700C unknown Het
Ect2 T A 3: 27,185,947 (GRCm39) H512L probably damaging Het
Eif1b A G 9: 120,323,277 (GRCm39) T46A possibly damaging Het
Fam114a2 A T 11: 57,398,391 (GRCm39) D182E probably damaging Het
Fez1 C A 9: 36,781,796 (GRCm39) P347H probably damaging Het
Fgd5 G A 6: 92,026,912 (GRCm39) probably null Het
Flad1 T A 3: 89,310,758 (GRCm39) I430F probably damaging Het
Gal3st2b T C 1: 93,868,614 (GRCm39) Y282H probably damaging Het
Gm29106 T A 1: 118,127,137 (GRCm39) N276K possibly damaging Het
Gm36176 C A 10: 77,682,686 (GRCm39) S16Y unknown Het
Gm5624 T C 14: 44,799,390 (GRCm39) R56G possibly damaging Het
Gpatch11 A C 17: 79,146,484 (GRCm39) Q43P probably benign Het
Gtpbp2 A G 17: 46,477,361 (GRCm39) T409A probably benign Het
Hmcn2 T C 2: 31,272,357 (GRCm39) I1279T probably benign Het
Itih3 T A 14: 30,639,287 (GRCm39) N429Y probably benign Het
Lrp5 A G 19: 3,736,353 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,452 (GRCm39) Y93F probably benign Het
Lypd9 T C 11: 58,338,269 (GRCm39) N41S probably benign Het
Malrd1 T A 2: 15,876,265 (GRCm39) V1404D unknown Het
Med1 T C 11: 98,046,218 (GRCm39) N1526S unknown Het
Myt1l A G 12: 29,876,868 (GRCm39) D173G unknown Het
Nckap1l A T 15: 103,371,012 (GRCm39) H197L probably damaging Het
Nipa1 T C 7: 55,629,372 (GRCm39) E247G probably damaging Het
Nmrk1 A T 19: 18,619,542 (GRCm39) R132* probably null Het
Nrap G T 19: 56,308,715 (GRCm39) A1700E probably benign Het
Odr4 T C 1: 150,258,045 (GRCm39) S197G probably benign Het
Or13p8 T A 4: 118,583,504 (GRCm39) F20Y probably damaging Het
Or8g32 A T 9: 39,305,389 (GRCm39) M98L probably benign Het
Padi6 T C 4: 140,456,306 (GRCm39) T563A probably benign Het
Pcdhb19 G A 18: 37,631,788 (GRCm39) E528K probably damaging Het
Pcnt T C 10: 76,223,356 (GRCm39) D1942G probably benign Het
Pcnx2 C T 8: 126,545,510 (GRCm39) W1167* probably null Het
Plekhg5 T C 4: 152,188,755 (GRCm39) L199P probably damaging Het
Rasal1 A G 5: 120,800,249 (GRCm39) T171A probably benign Het
Rgsl1 T C 1: 153,701,225 (GRCm39) I410V probably benign Het
Scart2 T C 7: 139,874,725 (GRCm39) V401A possibly damaging Het
Sftpa1 C A 14: 40,856,169 (GRCm39) N171K probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smap1 A T 1: 23,916,855 (GRCm39) N91K probably damaging Het
Tenm3 A G 8: 48,788,762 (GRCm39) S695P probably benign Het
Thoc3 A T 13: 54,611,617 (GRCm39) H223Q probably damaging Het
Tmco4 T C 4: 138,737,872 (GRCm39) F156L probably benign Het
Tmem30a C T 9: 79,682,513 (GRCm39) V188I probably benign Het
Trim27 T A 13: 21,376,328 (GRCm39) C359S probably benign Het
Trrap A G 5: 144,769,321 (GRCm39) T2609A probably benign Het
Ttn A G 2: 76,692,744 (GRCm39) V446A Het
Vat1l T A 8: 115,009,084 (GRCm39) Y273N probably damaging Het
Vmn1r129 T A 7: 21,094,552 (GRCm39) H222L possibly damaging Het
Vmn2r19 A G 6: 123,308,521 (GRCm39) T533A probably benign Het
Vmn2r77 T A 7: 86,460,492 (GRCm39) L606* probably null Het
Vmn2r93 G T 17: 18,525,631 (GRCm39) V430L probably benign Het
Vps50 T A 6: 3,562,304 (GRCm39) N466K probably damaging Het
Zfp507 A T 7: 35,487,229 (GRCm39) Y746* probably null Het
Zfp521 A C 18: 13,977,173 (GRCm39) L1080R probably damaging Het
Zfp74 A G 7: 29,653,278 (GRCm39) probably null Het
Zfp831 G A 2: 174,487,934 (GRCm39) A870T possibly damaging Het
Zfp936 A T 7: 42,839,336 (GRCm39) K268* probably null Het
Zhx2 C A 15: 57,685,572 (GRCm39) R314S probably damaging Het
Zkscan16 A T 4: 58,957,679 (GRCm39) K654* probably null 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
R7650:Pkp3 UTSW 7 140,662,283 (GRCm39) missense probably benign 0.00
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'- AAACACGTCTCCCAGGGAAG -3'
(R):5'- TCAGAGAATGACAGCATCCAG -3'

Sequencing Primer
(F):5'- GCAACCGGTCTGATGAGATG -3'
(R):5'- TGACAGCATCCAGGACAGGATC -3'
Posted On 2019-11-12