Incidental Mutation 'PIT4283001:Plk3'
ID 554351
Institutional Source Beutler Lab
Gene Symbol Plk3
Ensembl Gene ENSMUSG00000028680
Gene Name polo like kinase 3
Synonyms Cnk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4283001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116985852-116991160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116990489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 112 (I112T)
Ref Sequence ENSEMBL: ENSMUSP00000076130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000076859] [ENSMUST00000134074] [ENSMUST00000144269]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062206
SMART Domains Protein: ENSMUSP00000052243
Gene: ENSMUSG00000047671

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:Tctex-1 121 217 3.7e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076859
AA Change: I112T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680
AA Change: I112T

DomainStartEndE-ValueType
low complexity region 9 36 N/A INTRINSIC
S_TKc 63 315 2.15e-96 SMART
Pfam:POLO_box 473 534 2.7e-16 PFAM
low complexity region 554 566 N/A INTRINSIC
Pfam:POLO_box 570 638 1.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134074
SMART Domains Protein: ENSMUSP00000114182
Gene: ENSMUSG00000047671

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144269
SMART Domains Protein: ENSMUSP00000122605
Gene: ENSMUSG00000047671

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:Tctex-1 118 178 1.3e-9 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680
AA Change: I90T

DomainStartEndE-ValueType
low complexity region 1 9 N/A INTRINSIC
S_TKc 42 294 2.15e-96 SMART
Pfam:POLO_box 435 496 5.3e-17 PFAM
low complexity region 516 528 N/A INTRINSIC
Pfam:POLO_box 532 600 2.3e-16 PFAM
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.1%
  • 10x: 86.5%
  • 20x: 76.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal catalytic domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases have primarily been implicated in cell cycle regulation. In mouse, this protein that has been reported to localize to the nucleolus during interphase but is undetectable during mitosis, following nucleolus dissociation during prophase. The protein relocalizes to the nucleolus just prior to cytokinesis and peak levels are detected during G1 of interphase. This gene has been implicated in regulation of entry into S phase, with RNAi-induced depletion resulting in failure to re-enter the cell cycle. Mice deficient for this gene exhibit increased weight and tumor development at advanced age. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Aged mice homozygous for a null allele develop tumors in various organs at an accelerated rate while mouse embryonic fibroblasts are hypersensitive to the induction of HIF-1alpha under hypoxic conditions or by nickel and cobalt ion treatments. Homozygotes for another null allele are overtly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,093 (GRCm39) M1L probably benign Het
Aacs C A 5: 125,561,719 (GRCm39) A119D probably damaging Het
Abcb1b T A 5: 8,863,693 (GRCm39) V216D probably damaging Het
Adap2 T A 11: 80,068,089 (GRCm39) L367H probably damaging Het
Adcy7 T A 8: 89,042,120 (GRCm39) M373K probably damaging Het
Arhgap31 A G 16: 38,429,354 (GRCm39) L507P probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1b T C 2: 24,521,953 (GRCm39) D1718G probably damaging Het
Cacna2d1 A C 5: 16,507,292 (GRCm39) Y347S probably benign Het
Carf C A 1: 60,167,161 (GRCm39) P165T probably benign Het
Cplx3 T C 9: 57,523,359 (GRCm39) E66G probably damaging Het
Dnaaf5 A G 5: 139,151,917 (GRCm39) T523A probably benign Het
Dnajc10 T C 2: 80,161,739 (GRCm39) S326P probably benign Het
Eif4enif1 A T 11: 3,184,464 (GRCm39) E528D probably damaging Het
Elp2 G A 18: 24,755,187 (GRCm39) D392N probably damaging Het
Fat1 T C 8: 45,482,577 (GRCm39) S3079P probably damaging Het
Fat1 G T 8: 45,490,244 (GRCm39) V3719F probably damaging Het
Fat3 T A 9: 15,917,897 (GRCm39) S1509C possibly damaging Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Frmpd4 C T X: 166,512,030 (GRCm39) R8H possibly damaging Het
Glud1 T A 14: 34,058,129 (GRCm39) I380N probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Gramd1b C T 9: 40,366,752 (GRCm39) G72D probably benign Het
Gramd2b A T 18: 56,622,735 (GRCm39) E299V probably damaging Het
Grin1 C T 2: 25,187,864 (GRCm39) R544H probably damaging Het
Ifitm7 A T 16: 13,801,471 (GRCm39) V96E probably damaging Het
Lsm14b T A 2: 179,674,336 (GRCm39) M293K probably benign Het
Marf1 T A 16: 13,946,432 (GRCm39) T1230S probably benign Het
Morc2b T A 17: 33,355,042 (GRCm39) H910L probably benign Het
Mylip A G 13: 45,560,110 (GRCm39) N247S possibly damaging Het
Nup50l A G 6: 96,142,696 (GRCm39) I116T probably benign Het
Or4a73 T C 2: 89,420,572 (GRCm39) M296V probably benign Het
Osbpl3 T C 6: 50,323,068 (GRCm39) S264G probably benign Het
Pds5b C T 5: 150,701,774 (GRCm39) R802W probably damaging Het
Pik3cg T C 12: 32,255,864 (GRCm39) E41G probably damaging Het
Pwp2 A G 10: 78,020,921 (GRCm39) M1T probably null Het
Rtel1 T C 2: 180,988,683 (GRCm39) I417T probably benign Het
Sirt1 A T 10: 63,157,565 (GRCm39) N616K probably benign Het
Sirt6 T C 10: 81,458,252 (GRCm39) S334G possibly damaging Het
Strc T C 2: 121,205,788 (GRCm39) Y827C probably damaging Het
Taf1b T C 12: 24,597,594 (GRCm39) Y385H possibly damaging Het
Tgm5 T C 2: 120,902,066 (GRCm39) E201G possibly damaging Het
Thbd G C 2: 148,249,003 (GRCm39) N288K probably benign Het
Ush2a T A 1: 188,169,064 (GRCm39) N1068K probably benign Het
Vmn2r52 T C 7: 9,904,756 (GRCm39) E361G possibly damaging Het
Vps13d T C 4: 144,835,158 (GRCm39) N2736S Het
Vwa5b1 A G 4: 138,327,574 (GRCm39) L334P probably damaging Het
Zan A G 5: 137,398,355 (GRCm39) S4226P unknown Het
Zdhhc24 T C 19: 4,928,778 (GRCm39) M1T probably null Het
Other mutations in Plk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Plk3 APN 4 116,990,194 (GRCm39) nonsense probably null
IGL01647:Plk3 APN 4 116,987,554 (GRCm39) missense probably damaging 1.00
IGL02516:Plk3 APN 4 116,989,186 (GRCm39) missense probably damaging 0.99
IGL03340:Plk3 APN 4 116,990,125 (GRCm39) missense probably damaging 0.98
R0421:Plk3 UTSW 4 116,990,641 (GRCm39) missense probably damaging 1.00
R1074:Plk3 UTSW 4 116,988,955 (GRCm39) missense probably damaging 1.00
R1612:Plk3 UTSW 4 116,989,004 (GRCm39) missense probably damaging 1.00
R3813:Plk3 UTSW 4 116,990,647 (GRCm39) missense probably damaging 1.00
R3901:Plk3 UTSW 4 116,990,633 (GRCm39) missense probably benign 0.13
R5232:Plk3 UTSW 4 116,986,317 (GRCm39) missense probably benign 0.04
R5486:Plk3 UTSW 4 116,987,600 (GRCm39) nonsense probably null
R5655:Plk3 UTSW 4 116,988,677 (GRCm39) missense probably damaging 1.00
R6612:Plk3 UTSW 4 116,989,934 (GRCm39) nonsense probably null
R7127:Plk3 UTSW 4 116,987,767 (GRCm39) missense probably benign 0.39
R7380:Plk3 UTSW 4 116,988,350 (GRCm39) missense probably benign
R7748:Plk3 UTSW 4 116,988,925 (GRCm39) missense probably damaging 1.00
R7839:Plk3 UTSW 4 116,986,527 (GRCm39) missense probably damaging 1.00
R8762:Plk3 UTSW 4 116,989,090 (GRCm39) critical splice donor site probably benign
R9124:Plk3 UTSW 4 116,989,090 (GRCm39) critical splice donor site probably benign
R9126:Plk3 UTSW 4 116,989,090 (GRCm39) critical splice donor site probably benign
R9132:Plk3 UTSW 4 116,989,090 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- CTCCATCTGTGTTTGCTAAAGATG -3'
(R):5'- TATGAAGCCACTGACACCGAG -3'

Sequencing Primer
(F):5'- GAACAGCTTTGGATCTTAAGAACCCG -3'
(R):5'- ACCGAGTCTGGTATAGCCTAC -3'
Posted On 2019-06-07