Incidental Mutation 'IGL02516:Plk3'
ID296754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plk3
Ensembl Gene ENSMUSG00000028680
Gene Namepolo like kinase 3
SynonymsCnk
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02516
Quality Score
Status
Chromosome4
Chromosomal Location117128655-117133963 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117131989 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 222 (C222R)
Ref Sequence ENSEMBL: ENSMUSP00000076130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000076859] [ENSMUST00000134074] [ENSMUST00000144269]
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: C222R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680
AA Change: C222R

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 noncoding transcript
Transcript: ENSMUST00000126135
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 unknown
Transcript: ENSMUST00000147730
AA Change: C200R
SMART Domains Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680
AA Change: C200R

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
App T C 16: 84,955,417 T743A probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Bpi A G 2: 158,267,731 I200V possibly damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Cbarp A G 10: 80,135,545 Y149H probably damaging Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdcp1 G T 9: 123,173,637 L790M possibly damaging Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Dcaf7 T A 11: 106,051,872 I215N probably damaging Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Sccpdh G A 1: 179,681,691 G75D probably damaging Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null Het
Other mutations in Plk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Plk3 APN 4 117132997 nonsense probably null
IGL01647:Plk3 APN 4 117130357 missense probably damaging 1.00
IGL03340:Plk3 APN 4 117132928 missense probably damaging 0.98
PIT4283001:Plk3 UTSW 4 117133292 missense probably damaging 1.00
R0421:Plk3 UTSW 4 117133444 missense probably damaging 1.00
R1074:Plk3 UTSW 4 117131758 missense probably damaging 1.00
R1612:Plk3 UTSW 4 117131807 missense probably damaging 1.00
R3813:Plk3 UTSW 4 117133450 missense probably damaging 1.00
R3901:Plk3 UTSW 4 117133436 missense probably benign 0.13
R5232:Plk3 UTSW 4 117129120 missense probably benign 0.04
R5486:Plk3 UTSW 4 117130403 nonsense probably null
R5655:Plk3 UTSW 4 117131480 missense probably damaging 1.00
R6612:Plk3 UTSW 4 117132737 nonsense probably null
R7127:Plk3 UTSW 4 117130570 missense probably benign 0.39
R7380:Plk3 UTSW 4 117131153 missense probably benign
R7748:Plk3 UTSW 4 117131728 missense probably damaging 1.00
R7839:Plk3 UTSW 4 117129330 missense probably damaging 1.00
Posted On2015-04-16