Incidental Mutation 'R6605:Taok2'
ID 525594
Institutional Source Beutler Lab
Gene Symbol Taok2
Ensembl Gene ENSMUSG00000059981
Gene Name TAO kinase 2
Synonyms 1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1
MMRRC Submission 044728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6605 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126464850-126483875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126477930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 207 (D207V)
Ref Sequence ENSEMBL: ENSMUSP00000112963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394]
AlphaFold Q6ZQ29
Predicted Effect probably damaging
Transcript: ENSMUST00000071268
AA Change: D207V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: D207V

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 probably damaging
Transcript: ENSMUST00000117394
AA Change: D207V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: D207V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 92% (35/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,481 (GRCm39) I1260F probably damaging Het
Acat2 A G 17: 13,162,774 (GRCm39) V358A probably benign Het
Adgrv1 G A 13: 81,636,081 (GRCm39) A3476V possibly damaging Het
Akap13 A G 7: 75,229,516 (GRCm39) N150D probably damaging Het
Asb2 G T 12: 103,311,943 (GRCm39) Q60K probably benign Het
Asxl3 A T 18: 22,650,134 (GRCm39) R708* probably null Het
Cd79b C T 11: 106,203,539 (GRCm39) G116D probably damaging Het
Copg2 A G 6: 30,835,757 (GRCm39) F218S probably benign Het
Defa5 A C 8: 21,787,604 (GRCm39) E50D possibly damaging Het
Efcab3 T A 11: 104,890,107 (GRCm39) probably null Het
Eva1c T A 16: 90,663,236 (GRCm39) V91D probably damaging Het
Fosb T C 7: 19,043,283 (GRCm39) Y25C probably damaging Het
Gm5141 G A 13: 62,922,201 (GRCm39) H323Y probably damaging Het
Gpr19 T C 6: 134,847,398 (GRCm39) N58S probably benign Het
Gpr26 G A 7: 131,585,893 (GRCm39) A288T possibly damaging Het
Gucy2g T A 19: 55,229,460 (GRCm39) Q70L probably damaging Het
Ifit2 C T 19: 34,550,897 (GRCm39) R146* probably null Het
Lgr5 A C 10: 115,293,772 (GRCm39) N408K possibly damaging Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Mief1 T A 15: 80,132,692 (GRCm39) Y191* probably null Het
Npr3 C G 15: 11,905,518 (GRCm39) A70P probably damaging Het
Or2y1b A T 11: 49,208,541 (GRCm39) H56L probably damaging Het
Pcnt A G 10: 76,265,032 (GRCm39) probably null Het
Pnlip A T 19: 58,660,174 (GRCm39) D29V probably benign Het
Pnpt1 T A 11: 29,088,567 (GRCm39) F277I possibly damaging Het
Pou2f2 A C 7: 24,793,006 (GRCm39) V441G probably damaging Het
Prdm4 A G 10: 85,740,002 (GRCm39) V459A probably benign Het
Ptprs A T 17: 56,729,195 (GRCm39) V855E probably damaging Het
Rflna A G 5: 125,088,352 (GRCm39) T100A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spata31h1 A T 10: 82,131,871 (GRCm39) S380T probably benign Het
Syn3 A G 10: 85,893,428 (GRCm39) S472P unknown Het
Taar8a A T 10: 23,952,674 (GRCm39) I93F possibly damaging Het
Tpst2 A T 5: 112,424,600 (GRCm39) probably benign Homo
Trdv2-1 A G 14: 54,183,999 (GRCm39) N77S possibly damaging Het
Wdr17 A C 8: 55,134,559 (GRCm39) V18G probably benign Het
Zbtb17 T C 4: 141,192,261 (GRCm39) V402A probably damaging Het
Zfp772 T C 7: 7,208,547 (GRCm39) E99G possibly damaging Het
Zw10 A G 9: 48,980,926 (GRCm39) D442G probably benign 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
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
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'- GAATCTAGCACACTGGGCAG -3'
(R):5'- CTGCCAACTCTTTTGTGGGTAC -3'

Sequencing Primer
(F):5'- CTCTGAGTTCAAGGCCAGTCTG -3'
(R):5'- TACTCCATACTGGTGAGTAAAAGAG -3'
Posted On 2018-06-22