Incidental Mutation 'R1422:Plk2'
ID 161142
Institutional Source Beutler Lab
Gene Symbol Plk2
Ensembl Gene ENSMUSG00000021701
Gene Name polo like kinase 2
Synonyms Snk
MMRRC Submission 039478-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1422 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 110531580-110537378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110536023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 576 (M576V)
Ref Sequence ENSEMBL: ENSMUSP00000022212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022212]
AlphaFold P53351
Predicted Effect probably damaging
Transcript: ENSMUST00000022212
AA Change: M576V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: M576V

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
Meta Mutation Damage Score 0.4870 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.6%
Validation Efficiency 100% (51/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,610,333 (GRCm39) T170A probably benign Het
Arhgap5 T A 12: 52,566,297 (GRCm39) D1089E probably damaging Het
Atrn T C 2: 130,799,834 (GRCm39) Y404H probably damaging Het
Becn1 T C 11: 101,185,952 (GRCm39) D98G possibly damaging Het
Coro2b A G 9: 62,336,229 (GRCm39) probably null Het
Cpne4 T C 9: 104,777,484 (GRCm39) I143T probably damaging Het
Cr2 A G 1: 194,853,433 (GRCm39) I35T probably benign Het
Ctns T C 11: 73,076,072 (GRCm39) Y321C probably damaging Het
Cyp4f16 A T 17: 32,761,973 (GRCm39) M174L probably damaging Het
Dpy19l4 T C 4: 11,317,168 (GRCm39) E10G possibly damaging Het
Dtx3 T A 10: 127,027,158 (GRCm39) I339F possibly damaging Het
Fam184a A T 10: 53,551,304 (GRCm39) M625K probably benign Het
Fgd6 A G 10: 93,881,234 (GRCm39) E696G probably damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Gria1 T A 11: 57,080,614 (GRCm39) L199Q probably benign Het
Hk1 T C 10: 62,131,873 (GRCm39) D184G probably null Het
Ift88 T C 14: 57,675,758 (GRCm39) probably benign Het
Ift88 G A 14: 57,710,436 (GRCm39) V403M probably damaging Het
Igsf1 C A X: 48,871,813 (GRCm39) G737* probably null Het
Kif19a A G 11: 114,676,635 (GRCm39) D488G probably benign Het
Lpcat2 T C 8: 93,606,045 (GRCm39) L232P probably damaging Het
Ly9 A G 1: 171,428,780 (GRCm39) V280A probably damaging Het
Macrod2 T A 2: 140,261,861 (GRCm39) probably null Het
Mmp1a A G 9: 7,464,298 (GRCm39) probably null Het
Mmrn2 A G 14: 34,118,196 (GRCm39) H80R probably damaging Het
Or2b4 T C 17: 38,116,254 (GRCm39) Y73H probably damaging Het
Or51f23 G A 7: 102,453,057 (GRCm39) R124H probably benign Het
Or5l13 G A 2: 87,780,439 (GRCm39) T46I probably benign Het
Pkd1l3 C A 8: 110,348,340 (GRCm39) P194H unknown Het
Pms2 T A 5: 143,850,523 (GRCm39) S113T probably damaging Het
Ptprk A G 10: 28,351,276 (GRCm39) I590V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rad17 A G 13: 100,781,590 (GRCm39) L69P probably benign Het
Rmc1 G A 18: 12,314,680 (GRCm39) D87N probably damaging Het
Robo2 G A 16: 73,775,336 (GRCm39) T466M probably damaging Het
Sema6a A G 18: 47,439,498 (GRCm39) C9R probably benign Het
Slc6a19 A G 13: 73,833,988 (GRCm39) S357P probably benign Het
Spata31e2 C G 1: 26,721,547 (GRCm39) S1211T possibly damaging Het
Spock3 T C 8: 63,597,023 (GRCm39) I109T possibly damaging Het
Svs6 T C 2: 164,159,580 (GRCm39) probably null Het
Tenm4 A T 7: 96,199,258 (GRCm39) D17V probably damaging Het
Trp53bp2 T A 1: 182,274,029 (GRCm39) M558K probably benign Het
Ttn T C 2: 76,572,014 (GRCm39) E26293G probably damaging Het
Vmn1r29 A G 6: 58,284,871 (GRCm39) Y197C probably damaging Het
Wdfy3 A T 5: 102,032,080 (GRCm39) probably benign Het
Zfp366 A G 13: 99,365,804 (GRCm39) K322E probably damaging Het
Other mutations in Plk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Plk2 APN 13 110,535,298 (GRCm39) missense probably benign 0.18
IGL00586:Plk2 APN 13 110,532,912 (GRCm39) missense possibly damaging 0.61
IGL00798:Plk2 APN 13 110,534,568 (GRCm39) missense probably benign 0.00
IGL01450:Plk2 APN 13 110,532,858 (GRCm39) missense probably damaging 1.00
IGL01722:Plk2 APN 13 110,535,976 (GRCm39) missense probably benign 0.00
IGL01937:Plk2 APN 13 110,535,588 (GRCm39) missense possibly damaging 0.80
IGL01945:Plk2 APN 13 110,535,588 (GRCm39) missense possibly damaging 0.80
IGL01993:Plk2 APN 13 110,535,731 (GRCm39) missense probably damaging 1.00
IGL02231:Plk2 APN 13 110,536,603 (GRCm39) missense probably benign 0.01
IGL03059:Plk2 APN 13 110,535,668 (GRCm39) missense probably benign 0.42
Mite UTSW 13 110,532,570 (GRCm39) nonsense probably null
R0189:Plk2 UTSW 13 110,535,997 (GRCm39) missense probably damaging 1.00
R0324:Plk2 UTSW 13 110,534,242 (GRCm39) missense probably benign 0.08
R1108:Plk2 UTSW 13 110,536,023 (GRCm39) missense probably damaging 0.99
R1513:Plk2 UTSW 13 110,536,622 (GRCm39) missense probably benign 0.45
R2987:Plk2 UTSW 13 110,534,243 (GRCm39) missense probably benign 0.03
R4050:Plk2 UTSW 13 110,536,400 (GRCm39) missense probably damaging 1.00
R4211:Plk2 UTSW 13 110,532,871 (GRCm39) missense probably damaging 0.98
R4278:Plk2 UTSW 13 110,532,637 (GRCm39) missense probably benign 0.15
R4777:Plk2 UTSW 13 110,534,307 (GRCm39) missense probably benign
R5121:Plk2 UTSW 13 110,535,958 (GRCm39) missense probably benign 0.01
R5677:Plk2 UTSW 13 110,535,591 (GRCm39) missense possibly damaging 0.83
R6240:Plk2 UTSW 13 110,536,568 (GRCm39) missense probably damaging 1.00
R6240:Plk2 UTSW 13 110,536,008 (GRCm39) missense probably damaging 1.00
R6436:Plk2 UTSW 13 110,532,570 (GRCm39) nonsense probably null
R6596:Plk2 UTSW 13 110,534,296 (GRCm39) missense probably benign 0.37
R6776:Plk2 UTSW 13 110,536,325 (GRCm39) missense probably benign
R6938:Plk2 UTSW 13 110,533,214 (GRCm39) nonsense probably null
R7556:Plk2 UTSW 13 110,533,122 (GRCm39) splice site probably null
R8927:Plk2 UTSW 13 110,535,750 (GRCm39) missense probably damaging 1.00
R8928:Plk2 UTSW 13 110,535,750 (GRCm39) missense probably damaging 1.00
R9043:Plk2 UTSW 13 110,533,194 (GRCm39) missense probably damaging 0.97
R9063:Plk2 UTSW 13 110,532,920 (GRCm39) missense possibly damaging 0.67
R9512:Plk2 UTSW 13 110,536,673 (GRCm39) missense probably damaging 0.96
R9546:Plk2 UTSW 13 110,535,301 (GRCm39) missense possibly damaging 0.84
Z1177:Plk2 UTSW 13 110,531,793 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TCCTTTTCAACAACGGGGCTCAC -3'
(R):5'- GCTGACTCTCTGCACTGCATCTAAG -3'

Sequencing Primer
(F):5'- CGCTGTTGCGCTAATGAAATC -3'
(R):5'- gcactgcatctaagataagcc -3'
Posted On 2014-03-14