Incidental Mutation 'IGL02231:Plk2'
ID285715
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 #IGL02231
Quality Score
Status
Chromosome13
Chromosomal Location110395046-110400844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110400069 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 632 (C632S)
Ref Sequence ENSEMBL: ENSMUSP00000022212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022212]
Predicted Effect probably benign
Transcript: ENSMUST00000022212
AA Change: C632S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: C632S

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,279,896 G1647D probably benign Het
Alcam T A 16: 52,274,050 probably benign Het
Alox15 A C 11: 70,349,556 D266E probably benign Het
Atcay A T 10: 81,210,548 V314E probably damaging Het
Atp8b1 C T 18: 64,550,384 G758R possibly damaging Het
Cacna2d4 T A 6: 119,277,908 probably benign Het
Celsr3 T C 9: 108,842,510 V2429A probably damaging Het
Clspn T G 4: 126,559,228 D11E probably damaging Het
Cnot3 A G 7: 3,658,210 T573A probably benign Het
Cyp2d34 A T 15: 82,618,606 S140T probably benign Het
Edem1 A G 6: 108,828,888 D50G probably benign Het
Emilin3 G A 2: 160,908,515 T438I probably damaging Het
Etfdh C T 3: 79,618,393 V173I probably damaging Het
Fat2 T C 11: 55,281,092 T2932A probably damaging Het
Fcrl1 G A 3: 87,385,162 E154K possibly damaging Het
Fcrl1 A T 3: 87,385,163 E154V probably damaging Het
G3bp1 T A 11: 55,495,447 L244* probably null Het
Itgae A T 11: 73,090,622 K2M possibly damaging Het
Kcnq2 T C 2: 181,081,715 I654V probably benign Het
Ksr2 C T 5: 117,500,776 R82C probably damaging Het
Lrig3 A T 10: 125,997,172 D305V probably damaging Het
Me1 T C 9: 86,611,855 K322E possibly damaging Het
Med12l T A 3: 59,245,882 D1109E probably damaging Het
Mest A G 6: 30,740,773 K73E possibly damaging Het
Nup155 T G 15: 8,144,064 L881R probably damaging Het
Ocln A T 13: 100,541,114 S2T probably damaging Het
Oosp3 T C 19: 11,699,439 L54S probably damaging Het
Pkp3 G A 7: 141,084,238 E443K probably damaging Het
Ptk6 C T 2: 181,197,001 V320I probably damaging Het
Ptprt A T 2: 162,238,060 I273N probably damaging Het
Ptprt A G 2: 162,278,046 probably null Het
Rab3gap2 T C 1: 185,266,898 probably benign Het
Rabgef1 G A 5: 130,211,975 A312T probably damaging Het
Rabl6 T A 2: 25,598,184 K109N probably benign Het
Rbp7 C T 4: 149,454,877 probably null Het
Reg3a C T 6: 78,382,241 H75Y possibly damaging Het
Rnf123 G T 9: 108,066,399 P546T probably benign Het
Rnmt C A 18: 68,314,081 C345* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc14a2 C T 18: 78,209,021 S25N possibly damaging Het
Spata16 G T 3: 26,913,264 G388W probably damaging Het
Speg C T 1: 75,423,387 R2493W probably damaging Het
Thada T A 17: 84,428,697 D970V probably damaging Het
Tmem184c A G 8: 77,604,812 Y103H probably damaging Het
Ttn A T 2: 76,798,096 D12827E probably damaging Het
Utp20 A G 10: 88,791,168 L976S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp936 T A 7: 43,187,485 probably null 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
IGL01945:Plk2 APN 13 110399054 missense possibly damaging 0.80
IGL01993:Plk2 APN 13 110399197 missense probably damaging 1.00
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