Incidental Mutation 'IGL03059:Plk2'
ID 409368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plk2
Ensembl Gene ENSMUSG00000021701
Gene Name polo like kinase 2
Synonyms Snk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03059
Quality Score
Status
Chromosome 13
Chromosomal Location 110531580-110537378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 110535668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 497 (S497A)
Ref Sequence ENSEMBL: ENSMUSP00000022212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022212]
AlphaFold P53351
Predicted Effect probably benign
Transcript: ENSMUST00000022212
AA Change: S497A

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: S497A

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
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Galnt3 C T 2: 65,923,954 (GRCm39) R438H probably damaging Het
Gatm G A 2: 122,440,181 (GRCm39) A86V probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Lss A T 10: 76,367,860 (GRCm39) probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or14c41 A G 7: 86,234,779 (GRCm39) I99V probably benign Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Or2y12 A G 11: 49,426,021 (GRCm39) Y3C probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P probably damaging Het
Wdr5 T C 2: 27,409,746 (GRCm39) probably benign 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
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
R1422: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
Posted On 2016-08-02