Incidental Mutation 'IGL01937:Plk2'
ID279168
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 #IGL01937
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Abcb11 G T 2: 69,287,612 P474H probably damaging Het
Actn1 T C 12: 80,171,763 N749S probably benign Het
Atf7ip2 T A 16: 10,241,537 probably null Het
Brinp3 A T 1: 146,901,140 T442S probably benign Het
Cdh7 A G 1: 110,138,096 N700S probably benign Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
D430042O09Rik A G 7: 125,854,605 T1165A probably benign Het
Dlc1 G T 8: 36,850,191 S443R probably benign Het
Evi2b T A 11: 79,516,067 K227N probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Hemgn T C 4: 46,396,057 Y393C probably damaging Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Mmp14 T C 14: 54,437,596 probably benign Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Olfr1080 A G 2: 86,553,449 V225A probably benign Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Pcnx3 A G 19: 5,677,663 V1031A probably benign Het
Ppa1 G A 10: 61,665,436 V161M probably benign Het
Prrc2a A C 17: 35,155,591 I1361S possibly damaging Het
Psmd6 A T 14: 14,116,169 S140T probably benign Het
Ptprm A G 17: 67,046,163 probably benign Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rfx3 A T 19: 27,830,729 Y205N 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
Selenop C T 15: 3,279,268 T234M probably benign Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Vmn2r84 A G 10: 130,385,886 C822R probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript 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
IGL01945: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
Posted On2015-04-16