Incidental Mutation 'IGL01945:Plk2'
ID279224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plk2
Ensembl Gene ENSMUSG00000021701
Gene Namepolo like kinase 2
SynonymsSnk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01945
Quality Score
Status
Chromosome13
Chromosomal Location110395046-110400844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110399054 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 470 (D470G)
Ref Sequence ENSEMBL: ENSMUSP00000022212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022212]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022212
AA Change: D470G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: D470G

DomainStartEndE-ValueType
low complexity region 54 62 N/A INTRINSIC
S_TKc 79 331 7.08e-97 SMART
Blast:STYKc 335 383 9e-7 BLAST
low complexity region 448 464 N/A INTRINSIC
Pfam:POLO_box 508 569 2.5e-19 PFAM
Pfam:POLO_box 604 673 1.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225340
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Inactivation of this gene results in impaired embryonic growth and placental defects due to increased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Acta2 A G 19: 34,251,854 V45A probably benign Het
Adam11 G A 11: 102,772,910 V305M probably damaging Het
Adcy1 A G 11: 7,161,891 K919E probably damaging Het
Afap1l1 T C 18: 61,756,863 T101A probably benign Het
Apbb2 T A 5: 66,400,251 D289V probably damaging Het
Appl1 A G 14: 26,928,655 V520A possibly damaging Het
Atp5g3 G A 2: 73,910,969 R9C probably benign Het
Atp8a2 A G 14: 60,026,160 L375P probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin1 A T 11: 100,970,420 F16Y probably benign Het
Ccdc185 C A 1: 182,748,876 V83L probably benign Het
Ccdc80 T A 16: 45,118,245 S772T probably damaging Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
Coa5 A T 1: 37,429,898 C24S probably damaging Het
Col6a5 A T 9: 105,928,290 V1139D unknown Het
Ddx46 C A 13: 55,655,072 S469* probably null Het
Ep300 A G 15: 81,616,109 probably benign Het
Fcna A T 2: 25,627,835 M1K probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Gtse1 A G 15: 85,871,547 T471A probably benign Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Il1r2 A G 1: 40,102,453 T9A possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Krt75 G A 15: 101,570,164 T345M possibly damaging Het
Myo5a T A 9: 75,140,671 H260Q probably damaging Het
Nckap1l G A 15: 103,461,642 G156D probably damaging Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Nudt17 A G 3: 96,707,039 I201T probably damaging Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Olfr767 A T 10: 129,079,303 I220N probably damaging Het
Olfr845 A T 9: 19,339,332 S291C probably damaging Het
Padi6 T C 4: 140,741,924 D35G probably benign Het
Plcb1 A T 2: 135,220,791 Y107F probably benign Het
Plek2 T A 12: 78,892,148 H279L probably damaging Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Rbck1 G A 2: 152,318,316 P481L probably damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rngtt T C 4: 33,339,073 W293R probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Slc17a5 G T 9: 78,587,932 D12E probably benign Het
Slco1a5 T A 6: 142,243,989 probably null Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Tgfbr3 A G 5: 107,121,358 probably null Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Trhr T C 15: 44,197,144 V20A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wnt5a A G 14: 28,518,562 N223S probably damaging Het
Other mutations in Plk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Plk2 APN 13 110398764 missense probably benign 0.18
IGL00586:Plk2 APN 13 110396378 missense possibly damaging 0.61
IGL00798:Plk2 APN 13 110398034 missense probably benign 0.00
IGL01450:Plk2 APN 13 110396324 missense probably damaging 1.00
IGL01722:Plk2 APN 13 110399442 missense probably benign 0.00
IGL01937:Plk2 APN 13 110399054 missense possibly damaging 0.80
IGL01993:Plk2 APN 13 110399197 missense probably damaging 1.00
IGL02231:Plk2 APN 13 110400069 missense probably benign 0.01
IGL03059:Plk2 APN 13 110399134 missense probably benign 0.42
Mite UTSW 13 110396036 nonsense probably null
R0189:Plk2 UTSW 13 110399463 missense probably damaging 1.00
R0324:Plk2 UTSW 13 110397708 missense probably benign 0.08
R1108:Plk2 UTSW 13 110399489 missense probably damaging 0.99
R1422:Plk2 UTSW 13 110399489 missense probably damaging 0.99
R1513:Plk2 UTSW 13 110400088 missense probably benign 0.45
R2987:Plk2 UTSW 13 110397709 missense probably benign 0.03
R4050:Plk2 UTSW 13 110399866 missense probably damaging 1.00
R4211:Plk2 UTSW 13 110396337 missense probably damaging 0.98
R4278:Plk2 UTSW 13 110396103 missense probably benign 0.15
R4777:Plk2 UTSW 13 110397773 missense probably benign
R5121:Plk2 UTSW 13 110399424 missense probably benign 0.01
R5677:Plk2 UTSW 13 110399057 missense possibly damaging 0.83
R6240:Plk2 UTSW 13 110399474 missense probably damaging 1.00
R6240:Plk2 UTSW 13 110400034 missense probably damaging 1.00
R6436:Plk2 UTSW 13 110396036 nonsense probably null
R6596:Plk2 UTSW 13 110397762 missense probably benign 0.37
R6776:Plk2 UTSW 13 110399791 missense probably benign
R6938:Plk2 UTSW 13 110396680 nonsense probably null
R7556:Plk2 UTSW 13 110396588 splice site probably null
Z1177:Plk2 UTSW 13 110395259 missense probably benign 0.06
Posted On2015-04-16