Incidental Mutation 'R1456:Taok2'
ID 161791
Institutional Source Beutler Lab
Gene Symbol Taok2
Ensembl Gene ENSMUSG00000059981
Gene Name TAO kinase 2
Synonyms 1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1
MMRRC Submission 039511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1456 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126464850-126483875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126479313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 73 (I73V)
Ref Sequence ENSEMBL: ENSMUSP00000112963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394]
AlphaFold Q6ZQ29
Predicted Effect probably benign
Transcript: ENSMUST00000071268
AA Change: I73V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: I73V

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 benign
Transcript: ENSMUST00000117394
AA Change: I73V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: I73V

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
Meta Mutation Damage Score 0.1812 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik C T 2: 19,485,731 (GRCm39) probably null Het
4932414N04Rik A T 2: 68,546,558 (GRCm39) E80V possibly damaging Het
Alkbh3 A G 2: 93,831,764 (GRCm39) probably null Het
Ankar A T 1: 72,704,277 (GRCm39) Y664N probably benign Het
Arhgap18 T C 10: 26,792,436 (GRCm39) I629T probably benign Het
Arhgef28 C T 13: 98,211,510 (GRCm39) E158K probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Birc6 A G 17: 74,916,285 (GRCm39) I427V probably benign Het
Camk4 A G 18: 33,262,896 (GRCm39) probably benign Het
Ccdc178 A T 18: 22,283,481 (GRCm39) D16E possibly damaging Het
Cct6b G T 11: 82,644,446 (GRCm39) probably benign Het
Ccz1 A G 5: 143,947,836 (GRCm39) probably benign Het
Cdh23 T C 10: 60,322,899 (GRCm39) N335S possibly damaging Het
Cemip T A 7: 83,647,718 (GRCm39) S121C possibly damaging Het
Cers1 A G 8: 70,783,838 (GRCm39) E262G probably damaging Het
Clec11a G T 7: 43,955,874 (GRCm39) P58T possibly damaging Het
Clec16a T C 16: 10,509,419 (GRCm39) I797T probably damaging Het
Col4a1 A C 8: 11,292,829 (GRCm39) probably benign Het
Colgalt2 G A 1: 152,360,655 (GRCm39) V231I probably damaging Het
D430041D05Rik G T 2: 104,038,428 (GRCm39) N1580K probably damaging Het
Dcdc5 A G 2: 106,181,910 (GRCm39) noncoding transcript Het
Ddx17 T C 15: 79,414,577 (GRCm39) D530G probably benign Het
Dhx9 A T 1: 153,341,441 (GRCm39) D601E probably benign Het
Dnah3 A G 7: 119,646,853 (GRCm39) Y1059H probably damaging Het
Dtx1 C A 5: 120,848,569 (GRCm39) probably benign Het
Egfr A G 11: 16,813,065 (GRCm39) S182G probably benign Het
Fads1 A G 19: 10,163,116 (GRCm39) N131S probably benign Het
Fam243 T A 16: 92,117,553 (GRCm39) Y245F probably damaging Het
Fancm C T 12: 65,165,125 (GRCm39) A1490V possibly damaging Het
Fsd2 C A 7: 81,209,339 (GRCm39) E168* probably null Het
Galnt2l T C 8: 123,568,687 (GRCm39) probably benign Het
Gm9772 A T 17: 22,226,099 (GRCm39) C62S probably damaging Het
H60c C T 10: 3,210,307 (GRCm39) A81T possibly damaging Het
Hira T G 16: 18,744,413 (GRCm39) S377A probably benign Het
Iffo1 T C 6: 125,122,877 (GRCm39) S220P possibly damaging Het
Itih4 A G 14: 30,614,610 (GRCm39) M491V probably benign Het
Khdrbs2 T C 1: 32,559,777 (GRCm39) R102G possibly damaging Het
Klhdc7a T G 4: 139,692,835 (GRCm39) Y704S possibly damaging Het
Klk1b21 G A 7: 43,754,923 (GRCm39) V73I probably benign Het
Krt42 G A 11: 100,160,435 (GRCm39) A88V probably benign Het
Krt42 C T 11: 100,160,436 (GRCm39) A88T probably benign Het
Limk1 G T 5: 134,686,364 (GRCm39) D580E probably benign Het
Lipk C T 19: 34,024,185 (GRCm39) P323S probably damaging Het
Lipo5 T A 19: 33,443,273 (GRCm39) probably benign Het
Llgl2 A G 11: 115,736,325 (GRCm39) D166G probably benign Het
Mapk8ip3 A T 17: 25,125,923 (GRCm39) N439K probably damaging Het
Mapkbp1 C T 2: 119,803,626 (GRCm39) R32W probably damaging Het
Med23 T A 10: 24,779,550 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,777 (GRCm39) M45K probably damaging Het
Mroh7 G A 4: 106,552,338 (GRCm39) probably benign Het
Mrpl27 G A 11: 94,544,659 (GRCm39) probably benign Het
Ms4a10 T A 19: 10,942,097 (GRCm39) T175S possibly damaging Het
Muc17 T C 5: 137,166,799 (GRCm39) H330R probably benign Het
Myo15a A T 11: 60,399,028 (GRCm39) I2787F probably damaging Het
Ndst1 A G 18: 60,846,277 (GRCm39) C11R possibly damaging Het
Obsl1 C A 1: 75,464,300 (GRCm39) G1669* probably null Het
Or5p56 A G 7: 107,589,605 (GRCm39) E11G probably benign Het
Or6c208 A T 10: 129,223,652 (GRCm39) D50V probably damaging Het
Or7e177 T C 9: 20,212,134 (GRCm39) Y214H probably benign Het
Pafah2 T A 4: 134,131,468 (GRCm39) I52N probably damaging Het
Pcsk6 A T 7: 65,693,283 (GRCm39) I693F possibly damaging Het
Pde4c G T 8: 71,199,262 (GRCm39) R228L probably benign Het
Pdzd8 T C 19: 59,288,904 (GRCm39) N832S probably benign Het
Plbd1 T A 6: 136,590,814 (GRCm39) M451L probably benign Het
Pramel14 G T 4: 143,719,851 (GRCm39) D171E probably benign Het
Prom1 T C 5: 44,194,965 (GRCm39) D260G probably damaging Het
Ranbp17 A G 11: 33,216,310 (GRCm39) S813P probably damaging Het
Scn10a T C 9: 119,520,544 (GRCm39) I119V probably benign Het
Sh3pxd2b A G 11: 32,365,967 (GRCm39) T353A probably damaging Het
Shq1 A T 6: 100,646,659 (GRCm39) probably null Het
Slc22a28 T A 19: 8,049,223 (GRCm39) H342L possibly damaging Het
Slco2b1 C T 7: 99,314,114 (GRCm39) E9K probably null Het
Specc1l T C 10: 75,082,118 (GRCm39) F505L probably damaging Het
Sptan1 G T 2: 29,870,215 (GRCm39) probably null Het
St6gal2 A G 17: 55,797,932 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,721,229 (GRCm39) T478I probably benign Het
Tbc1d4 A T 14: 101,744,542 (GRCm39) N361K probably damaging Het
Tph1 A T 7: 46,296,907 (GRCm39) Y429* probably null Het
Tprkb A T 6: 85,901,403 (GRCm39) R14W probably damaging Het
Trio A T 15: 27,753,890 (GRCm39) probably benign Het
Ttc23 T C 7: 67,316,902 (GRCm39) probably benign Het
Vmn1r211 T C 13: 23,036,415 (GRCm39) Y84C probably damaging Het
Vmn2r22 C G 6: 123,614,624 (GRCm39) G322A possibly damaging Het
Wdr74 A G 19: 8,717,776 (GRCm39) Q330R probably benign Het
Wdtc1 C A 4: 133,024,739 (GRCm39) S486I possibly damaging Het
Zbtb24 T C 10: 41,340,989 (GRCm39) V673A possibly damaging Het
Zfpm2 A T 15: 40,965,877 (GRCm39) R655S probably damaging Het
Zkscan5 A G 5: 145,157,798 (GRCm39) N694D 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
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
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'- ACTGCCTGTTTAAAACGCTGGACC -3'
(R):5'- GGGCTCAGTCTCTTTCAACCTGTG -3'

Sequencing Primer
(F):5'- CTGGACCAGGAAAAGATTGACC -3'
(R):5'- TTCTAATAGCTCAGCGGGTC -3'
Posted On 2014-03-14