Incidental Mutation 'R3162:Taok2'
ID 349842
Institutional Source Beutler Lab
Gene Symbol Taok2
Ensembl Gene ENSMUSG00000059981
Gene Name TAO kinase 2
Synonyms 1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3162 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126464850-126483875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126474347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 294 (I294T)
Ref Sequence ENSEMBL: ENSMUSP00000112963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000214525]
AlphaFold Q6ZQ29
Predicted Effect possibly damaging
Transcript: ENSMUST00000071268
AA Change: I294T

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: I294T

DomainStartEndE-ValueType
S_TKc 28 281 6.42e-86 SMART
low complexity region 319 333 N/A INTRINSIC
coiled coil region 373 401 N/A INTRINSIC
low complexity region 449 465 N/A INTRINSIC
coiled coil region 493 526 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
coiled coil region 579 608 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
coiled coil region 821 859 N/A INTRINSIC
low complexity region 863 892 N/A INTRINSIC
low complexity region 931 954 N/A INTRINSIC
low complexity region 963 972 N/A INTRINSIC
low complexity region 977 992 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117394
AA Change: I294T

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: I294T

DomainStartEndE-ValueType
S_TKc 28 281 6.42e-86 SMART
low complexity region 319 333 N/A INTRINSIC
coiled coil region 373 401 N/A INTRINSIC
low complexity region 449 465 N/A INTRINSIC
coiled coil region 493 526 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
coiled coil region 579 608 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
transmembrane domain 962 984 N/A INTRINSIC
transmembrane domain 991 1013 N/A INTRINSIC
transmembrane domain 1017 1039 N/A INTRINSIC
transmembrane domain 1052 1074 N/A INTRINSIC
low complexity region 1085 1100 N/A INTRINSIC
low complexity region 1197 1215 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156273
Predicted Effect probably benign
Transcript: ENSMUST00000214525
Meta Mutation Damage Score 0.6280 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. Mice homozygous for a targeted allele exhibit resistance to the ataxic effect of alcohol, reduced blood ethanol content, increased alcohol consumption, impaired CPP for alcohol, and impaired habituation in an open field. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
9930014A18Rik A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm13141 GGTTTCTTGATGCC G 4: 147,612,561 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hpx C T 7: 105,248,847 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Skic8 T A 9: 54,631,473 (GRCm39) probably benign Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Taok2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Taok2 APN 7 126,471,583 (GRCm39) missense probably damaging 0.98
IGL01153:Taok2 APN 7 126,470,204 (GRCm39) missense probably damaging 0.99
IGL02689:Taok2 APN 7 126,475,270 (GRCm39) missense probably damaging 0.99
R0049:Taok2 UTSW 7 126,465,583 (GRCm39) missense possibly damaging 0.92
R0601:Taok2 UTSW 7 126,478,605 (GRCm39) missense probably damaging 1.00
R0976:Taok2 UTSW 7 126,474,323 (GRCm39) missense possibly damaging 0.77
R1456:Taok2 UTSW 7 126,479,313 (GRCm39) missense probably benign 0.09
R1643:Taok2 UTSW 7 126,475,110 (GRCm39) unclassified probably benign
R2084:Taok2 UTSW 7 126,469,363 (GRCm39) missense probably benign 0.04
R2212:Taok2 UTSW 7 126,470,030 (GRCm39) missense possibly damaging 0.79
R2471:Taok2 UTSW 7 126,474,272 (GRCm39) missense probably damaging 0.98
R3162:Taok2 UTSW 7 126,474,347 (GRCm39) missense possibly damaging 0.85
R3412:Taok2 UTSW 7 126,470,030 (GRCm39) missense possibly damaging 0.79
R4085:Taok2 UTSW 7 126,473,897 (GRCm39) missense possibly damaging 0.90
R4440:Taok2 UTSW 7 126,465,693 (GRCm39) missense possibly damaging 0.85
R4775:Taok2 UTSW 7 126,469,940 (GRCm39) missense probably damaging 0.99
R4787:Taok2 UTSW 7 126,467,304 (GRCm39) missense possibly damaging 0.85
R4788:Taok2 UTSW 7 126,467,304 (GRCm39) missense possibly damaging 0.85
R4791:Taok2 UTSW 7 126,467,304 (GRCm39) missense possibly damaging 0.85
R4927:Taok2 UTSW 7 126,475,213 (GRCm39) missense probably damaging 1.00
R5651:Taok2 UTSW 7 126,479,455 (GRCm39) missense probably damaging 1.00
R6371:Taok2 UTSW 7 126,469,319 (GRCm39) missense probably damaging 1.00
R6408:Taok2 UTSW 7 126,470,164 (GRCm39) missense probably benign
R6605:Taok2 UTSW 7 126,477,930 (GRCm39) missense probably damaging 1.00
R6828:Taok2 UTSW 7 126,471,047 (GRCm39) splice site probably null
R6863:Taok2 UTSW 7 126,471,109 (GRCm39) missense probably damaging 0.99
R6962:Taok2 UTSW 7 126,466,088 (GRCm39) critical splice acceptor site probably null
R6967:Taok2 UTSW 7 126,469,564 (GRCm39) missense probably damaging 0.98
R7127:Taok2 UTSW 7 126,466,326 (GRCm39) missense possibly damaging 0.82
R7187:Taok2 UTSW 7 126,471,552 (GRCm39) missense probably damaging 0.99
R7307:Taok2 UTSW 7 126,465,990 (GRCm39) missense probably damaging 1.00
R7325:Taok2 UTSW 7 126,470,260 (GRCm39) missense probably benign
R7429:Taok2 UTSW 7 126,469,849 (GRCm39) missense possibly damaging 0.95
R7497:Taok2 UTSW 7 126,474,050 (GRCm39) missense probably damaging 1.00
R8861:Taok2 UTSW 7 126,470,615 (GRCm39) missense probably damaging 0.99
R9402:Taok2 UTSW 7 126,469,400 (GRCm39) missense
R9542:Taok2 UTSW 7 126,466,008 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGACTGGTCAGTGTCCCTG -3'
(R):5'- TAAGACAAGGGTGAGCTTGC -3'

Sequencing Primer
(F):5'- AGGTTCTGCCTCCTGGGAAC -3'
(R):5'- GCAGCTGTAGTGGGCAG -3'
Posted On 2015-10-08