Incidental Mutation 'R4580:Plk5'
ID 343607
Institutional Source Beutler Lab
Gene Symbol Plk5
Ensembl Gene ENSMUSG00000035486
Gene Name polo like kinase 5
Synonyms 6330514A18Rik
MMRRC Submission 041599-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4580 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80192293-80201323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80196301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 291 (H291Y)
Ref Sequence ENSEMBL: ENSMUSP00000100988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039836] [ENSMUST00000105351]
AlphaFold Q4FZD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000039836
AA Change: H295Y

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: H295Y

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
S_TKc 27 283 2.41e-90 SMART
Pfam:POLO_box 425 486 4.9e-18 PFAM
low complexity region 583 596 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105351
AA Change: H291Y

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: H291Y

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
S_TKc 27 279 2.56e-94 SMART
Pfam:POLO_box 420 483 1.6e-17 PFAM
low complexity region 579 592 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152544
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,237 (GRCm39) Y114C probably damaging Het
Abcc2 T C 19: 43,799,558 (GRCm39) S556P probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp6v1g1 A G 4: 63,468,269 (GRCm39) N91D probably benign Het
BC005537 G T 13: 24,987,394 (GRCm39) A11S probably benign Het
Bltp1 A T 3: 37,084,174 (GRCm39) T3864S probably benign Het
Bub1 A C 2: 127,671,596 (GRCm39) probably null Het
Ccdc162 T C 10: 41,437,136 (GRCm39) T1758A probably benign Het
Cdh15 T C 8: 123,591,897 (GRCm39) L594P probably damaging Het
Cobll1 C T 2: 64,981,417 (GRCm39) V90I probably benign Het
Cog2 T C 8: 125,271,875 (GRCm39) V463A probably benign Het
Cpeb4 T A 11: 31,877,757 (GRCm39) probably null Het
Creb5 G A 6: 53,581,519 (GRCm39) M172I possibly damaging Het
Cyp4a32 T C 4: 115,460,126 (GRCm39) silent Het
Dnah8 T A 17: 30,881,026 (GRCm39) S588T probably benign Het
Ecpas T C 4: 58,840,751 (GRCm39) Y669C probably damaging Het
Esd T C 14: 74,979,517 (GRCm39) V120A possibly damaging Het
Fbxo5 T C 10: 5,755,255 (GRCm39) probably null Het
Gm4922 T C 10: 18,659,432 (GRCm39) D430G probably benign Het
Golga4 C A 9: 118,386,327 (GRCm39) Q1150K probably benign Het
Grb14 T C 2: 64,783,947 (GRCm39) N60S probably benign Het
Grk4 A G 5: 34,818,325 (GRCm39) N2S probably damaging Het
Henmt1 T A 3: 108,850,081 (GRCm39) S21R probably benign Het
Ifngr2 A G 16: 91,354,906 (GRCm39) K113E probably benign Het
Ighv15-2 T A 12: 114,528,590 (GRCm39) T15S probably benign Het
Kif24 A G 4: 41,395,287 (GRCm39) S529P probably damaging Het
Large2 T C 2: 92,200,957 (GRCm39) N51S possibly damaging Het
Lmtk2 A G 5: 144,111,599 (GRCm39) E773G possibly damaging Het
Lrfn3 A T 7: 30,059,467 (GRCm39) C253S probably damaging Het
Maea T C 5: 33,517,832 (GRCm39) V130A possibly damaging Het
Marchf11 A T 15: 26,311,189 (GRCm39) I222F probably damaging Het
Mast4 A T 13: 102,873,766 (GRCm39) Y1699* probably null Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mpzl3 T A 9: 44,979,529 (GRCm39) V160E possibly damaging Het
Myh15 T C 16: 48,885,388 (GRCm39) S88P possibly damaging Het
Myl2 A T 5: 122,244,801 (GRCm39) H157L probably benign Het
Myo9b A G 8: 71,767,779 (GRCm39) N284S probably damaging Het
Nphp1 A G 2: 127,610,089 (GRCm39) probably null Het
Nrcam T C 12: 44,609,323 (GRCm39) probably null Het
Nt5c3b G T 11: 100,323,885 (GRCm39) F134L probably damaging Het
Or4c120 T A 2: 89,001,544 (GRCm39) Q4L probably benign Het
Otog A G 7: 45,937,225 (GRCm39) R1645G possibly damaging Het
Pask T C 1: 93,249,830 (GRCm39) I523M probably benign Het
Pcdhb7 T A 18: 37,475,188 (GRCm39) L108Q probably damaging Het
Pdp2 C A 8: 105,321,576 (GRCm39) T475K probably damaging Het
Pgbd1 G C 13: 21,612,499 (GRCm39) P113A probably benign Het
Pmpca G T 2: 26,283,347 (GRCm39) S382I probably damaging Het
Prl3b1 A G 13: 27,433,450 (GRCm39) T202A possibly damaging Het
Ptgs2 A T 1: 149,979,845 (GRCm39) T317S possibly damaging Het
Ptprc C T 1: 137,998,989 (GRCm39) M1020I probably benign Het
Rhbdl3 T C 11: 80,244,471 (GRCm39) Y393H probably damaging Het
Sema3e T C 5: 14,283,717 (GRCm39) L482P probably damaging Het
Setd2 C T 9: 110,403,311 (GRCm39) T1984I probably benign Het
Slc17a1 T C 13: 24,071,960 (GRCm39) Y393H probably damaging Het
Slc9a3 C T 13: 74,307,005 (GRCm39) R377* probably null Het
Slitrk3 A G 3: 72,958,539 (GRCm39) S78P probably damaging Het
Smim35 G T 9: 45,155,426 (GRCm39) probably null Het
Specc1 T A 11: 62,110,157 (GRCm39) V1054E probably damaging Het
Tbc1d4 T C 14: 101,696,219 (GRCm39) T847A probably benign Het
Tcf7l2 G A 19: 55,907,468 (GRCm39) G343R probably damaging Het
Tex36 A C 7: 133,189,111 (GRCm39) Y154D possibly damaging Het
Topaz1 T A 9: 122,576,580 (GRCm39) M57K probably null Het
Trav6-4 T C 14: 53,692,156 (GRCm39) Y85H probably damaging Het
Trim30d A G 7: 104,121,765 (GRCm39) Y327H possibly damaging Het
Ttn A G 2: 76,781,740 (GRCm39) V1056A probably benign Het
Usp32 C A 11: 84,949,953 (GRCm39) probably null Het
Vmn1r59 A T 7: 5,457,136 (GRCm39) M208K probably damaging Het
Vmn2r25 T C 6: 123,799,982 (GRCm39) T787A possibly damaging Het
Vps39 A T 2: 120,169,814 (GRCm39) I246N probably benign Het
Xab2 T C 8: 3,660,162 (GRCm39) D855G probably damaging Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Ythdc2 T A 18: 44,991,265 (GRCm39) C758S possibly damaging Het
Zfp62 A G 11: 49,107,099 (GRCm39) I397V possibly damaging Het
Zscan4d A G 7: 10,896,435 (GRCm39) S312P probably benign Het
Other mutations in Plk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Plk5 APN 10 80,199,001 (GRCm39) critical splice donor site probably null
IGL02605:Plk5 APN 10 80,198,896 (GRCm39) missense probably damaging 0.99
R0083:Plk5 UTSW 10 80,192,496 (GRCm39) missense possibly damaging 0.91
R0590:Plk5 UTSW 10 80,196,057 (GRCm39) missense probably damaging 1.00
R0783:Plk5 UTSW 10 80,196,964 (GRCm39) missense probably benign
R1815:Plk5 UTSW 10 80,199,855 (GRCm39) missense probably benign 0.03
R1866:Plk5 UTSW 10 80,196,403 (GRCm39) splice site probably null
R1991:Plk5 UTSW 10 80,198,936 (GRCm39) missense possibly damaging 0.53
R4501:Plk5 UTSW 10 80,195,305 (GRCm39) missense probably benign 0.05
R4731:Plk5 UTSW 10 80,194,631 (GRCm39) missense probably damaging 1.00
R4801:Plk5 UTSW 10 80,195,138 (GRCm39) missense possibly damaging 0.87
R4802:Plk5 UTSW 10 80,195,138 (GRCm39) missense possibly damaging 0.87
R5084:Plk5 UTSW 10 80,194,723 (GRCm39) missense possibly damaging 0.75
R5346:Plk5 UTSW 10 80,198,942 (GRCm39) missense probably damaging 1.00
R5702:Plk5 UTSW 10 80,196,401 (GRCm39) critical splice donor site probably null
R6417:Plk5 UTSW 10 80,199,906 (GRCm39) missense probably benign 0.07
R6548:Plk5 UTSW 10 80,198,879 (GRCm39) missense probably damaging 1.00
R6695:Plk5 UTSW 10 80,196,035 (GRCm39) missense probably benign 0.22
R7989:Plk5 UTSW 10 80,199,899 (GRCm39) missense probably benign 0.00
R8376:Plk5 UTSW 10 80,196,179 (GRCm39) missense probably damaging 0.97
R8746:Plk5 UTSW 10 80,194,610 (GRCm39) missense probably benign 0.03
R9025:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9027:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9063:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9087:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9089:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9090:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9091:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9270:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9271:Plk5 UTSW 10 80,193,830 (GRCm39) missense probably damaging 0.99
R9438:Plk5 UTSW 10 80,193,867 (GRCm39) missense probably damaging 1.00
X0019:Plk5 UTSW 10 80,200,135 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTACCAAAACATCCGTGACG -3'
(R):5'- AATTACTCGCCTCGTTGCCG -3'

Sequencing Primer
(F):5'- TCATTGCACGGCTCCTGG -3'
(R):5'- TCTGGGGGACACCAATGC -3'
Posted On 2015-09-24