Incidental Mutation 'R4708:Ttbk2'
ID 355394
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 042017-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4708 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120570342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1201 (R1201S)
Ref Sequence ENSEMBL: ENSMUSP00000083001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840]
AlphaFold Q3UVR3
Predicted Effect probably damaging
Transcript: ENSMUST00000028740
AA Change: R1270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: R1270S

DomainStartEndE-ValueType
Pfam:Pkinase 90 347 7e-31 PFAM
Pfam:Pkinase_Tyr 90 348 8.2e-19 PFAM
low complexity region 369 383 N/A INTRINSIC
low complexity region 1143 1156 N/A INTRINSIC
low complexity region 1205 1242 N/A INTRINSIC
low complexity region 1254 1271 N/A INTRINSIC
low complexity region 1285 1309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000057135
AA Change: R1201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: R1201S

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 1.2e-32 PFAM
Pfam:Pkinase_Tyr 21 280 3.8e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
low complexity region 1074 1087 N/A INTRINSIC
low complexity region 1136 1173 N/A INTRINSIC
low complexity region 1185 1202 N/A INTRINSIC
low complexity region 1216 1240 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085840
AA Change: R1201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: R1201S

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 1.2e-32 PFAM
Pfam:Pkinase_Tyr 21 280 3.8e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
low complexity region 1074 1087 N/A INTRINSIC
low complexity region 1136 1173 N/A INTRINSIC
low complexity region 1185 1202 N/A INTRINSIC
low complexity region 1216 1240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Meta Mutation Damage Score 0.1013 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,261,309 (GRCm39) G2D probably damaging Het
4930505A04Rik T C 11: 30,404,717 (GRCm39) Y62C probably damaging Het
Aadacl4 A C 4: 144,349,899 (GRCm39) K385N probably benign Het
Abcb4 A T 5: 8,965,125 (GRCm39) T332S possibly damaging Het
Aco2 G A 15: 81,794,117 (GRCm39) probably null Het
Aplf G T 6: 87,640,739 (GRCm39) S69Y probably damaging Het
Arhgap27 A G 11: 103,224,388 (GRCm39) probably benign Het
B4galnt1 T A 10: 127,005,684 (GRCm39) Y262N probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc62 T G 5: 124,068,925 (GRCm39) probably null Het
Cd109 T A 9: 78,579,871 (GRCm39) I649K probably benign Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cep290 A G 10: 100,359,126 (GRCm39) K952R probably benign Het
Ces2a A G 8: 105,463,938 (GRCm39) H190R probably benign Het
Clec14a A G 12: 58,314,489 (GRCm39) S378P probably benign Het
Col27a1 A G 4: 63,202,150 (GRCm39) Q947R probably benign Het
Dennd3 A G 15: 73,395,344 (GRCm39) T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 (GRCm39) M486L probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eif4enif1 T G 11: 3,170,323 (GRCm39) H125Q probably damaging Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Fubp3 C T 2: 31,498,122 (GRCm39) T92I probably benign Het
Gm19426 T C 2: 84,573,803 (GRCm39) probably null Het
Gtf2ird2 A G 5: 134,245,140 (GRCm39) H466R probably damaging Het
Hdac5 T C 11: 102,093,019 (GRCm39) S573G probably damaging Het
Iars2 A T 1: 185,021,554 (GRCm39) M916K probably benign Het
Insr A T 8: 3,261,346 (GRCm39) probably benign Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ivl T A 3: 92,479,057 (GRCm39) K336I probably damaging Het
Kcng2 A G 18: 80,366,067 (GRCm39) I95T probably damaging Het
Lap3 A G 5: 45,668,480 (GRCm39) R431G probably damaging Het
Lrrc66 T C 5: 73,787,005 (GRCm39) H115R probably benign Het
Morc3 T C 16: 93,670,126 (GRCm39) V767A probably benign Het
Mttp A G 3: 137,839,859 (GRCm39) probably benign Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nat9 G A 11: 115,074,269 (GRCm39) T133M probably damaging Het
Nectin4 T C 1: 171,212,714 (GRCm39) I349T probably benign Het
Nlrp4a A G 7: 26,163,533 (GRCm39) E900G probably benign Het
Nlrp9c A T 7: 26,084,265 (GRCm39) M438K probably benign Het
Or2y14 T A 11: 49,405,216 (GRCm39) Y250* probably null Het
Or52p2 A T 7: 102,237,043 (GRCm39) D302E probably benign Het
Or5b21 A T 19: 12,839,261 (GRCm39) I41F probably benign Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pde6c G A 19: 38,169,341 (GRCm39) E804K possibly damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Ptprs A G 17: 56,735,067 (GRCm39) W216R probably damaging Het
Rhof T A 5: 123,258,454 (GRCm39) T126S probably benign Het
Riox2 A G 16: 59,296,045 (GRCm39) I49V probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rusf1 A G 7: 127,873,852 (GRCm39) V345A probably benign Het
Shld2 A G 14: 33,989,790 (GRCm39) V372A probably benign Het
Spata31e2 A T 1: 26,723,521 (GRCm39) V553D possibly damaging Het
Tmc6 A T 11: 117,659,774 (GRCm39) C750S probably benign Het
Tmem231 C A 8: 112,660,418 (GRCm39) probably benign Het
Tmem94 T A 11: 115,677,121 (GRCm39) I131N possibly damaging Het
Tmx3 T C 18: 90,539,163 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,123 (GRCm39) T245I possibly damaging Het
Vmn2r102 A T 17: 19,914,576 (GRCm39) M714L probably benign Het
Vmn2r109 A G 17: 20,761,605 (GRCm39) L584S probably damaging Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Vnn1 T A 10: 23,773,250 (GRCm39) D92E probably benign Het
Zan T C 5: 137,444,974 (GRCm39) I1762V unknown Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfhx4 A G 3: 5,310,563 (GRCm39) probably null Het
Zfp560 T C 9: 20,263,214 (GRCm39) E54G possibly damaging Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zmynd11 A C 13: 9,745,789 (GRCm39) V188G probably damaging Het
Other mutations in Ttbk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Ttbk2 APN 2 120,579,314 (GRCm39) nonsense probably null
IGL00484:Ttbk2 APN 2 120,604,367 (GRCm39) nonsense probably null
IGL00767:Ttbk2 APN 2 120,576,226 (GRCm39) missense probably benign
IGL00809:Ttbk2 APN 2 120,590,750 (GRCm39) missense probably damaging 1.00
IGL01484:Ttbk2 APN 2 120,570,314 (GRCm39) missense possibly damaging 0.95
IGL01974:Ttbk2 APN 2 120,616,564 (GRCm39) missense probably damaging 1.00
IGL02488:Ttbk2 APN 2 120,586,352 (GRCm39) missense probably benign 0.00
IGL02874:Ttbk2 APN 2 120,576,193 (GRCm39) missense probably damaging 0.99
IGL02893:Ttbk2 APN 2 120,614,210 (GRCm39) missense probably damaging 1.00
IGL03210:Ttbk2 APN 2 120,652,973 (GRCm39) missense probably damaging 0.99
R0279:Ttbk2 UTSW 2 120,579,441 (GRCm39) missense probably benign 0.00
R0362:Ttbk2 UTSW 2 120,576,264 (GRCm39) missense possibly damaging 0.90
R0376:Ttbk2 UTSW 2 120,608,062 (GRCm39) missense probably damaging 1.00
R0400:Ttbk2 UTSW 2 120,580,723 (GRCm39) missense probably benign 0.02
R0601:Ttbk2 UTSW 2 120,655,777 (GRCm39) missense possibly damaging 0.73
R0606:Ttbk2 UTSW 2 120,604,353 (GRCm39) missense probably damaging 1.00
R0664:Ttbk2 UTSW 2 120,579,302 (GRCm39) missense probably damaging 0.99
R0718:Ttbk2 UTSW 2 120,579,056 (GRCm39) missense probably benign 0.01
R0718:Ttbk2 UTSW 2 120,575,641 (GRCm39) missense probably benign 0.00
R0783:Ttbk2 UTSW 2 120,570,458 (GRCm39) missense possibly damaging 0.74
R0906:Ttbk2 UTSW 2 120,614,262 (GRCm39) missense probably damaging 1.00
R1141:Ttbk2 UTSW 2 120,637,332 (GRCm39) missense probably damaging 1.00
R1363:Ttbk2 UTSW 2 120,637,389 (GRCm39) critical splice acceptor site probably null
R1420:Ttbk2 UTSW 2 120,576,393 (GRCm39) missense probably benign 0.00
R1734:Ttbk2 UTSW 2 120,586,319 (GRCm39) missense probably benign 0.01
R2033:Ttbk2 UTSW 2 120,637,330 (GRCm39) missense probably damaging 0.98
R2047:Ttbk2 UTSW 2 120,579,397 (GRCm39) missense probably damaging 0.99
R2893:Ttbk2 UTSW 2 120,576,091 (GRCm39) splice site probably null
R3783:Ttbk2 UTSW 2 120,604,296 (GRCm39) splice site probably benign
R3785:Ttbk2 UTSW 2 120,604,296 (GRCm39) splice site probably benign
R3870:Ttbk2 UTSW 2 120,570,500 (GRCm39) missense probably damaging 1.00
R4024:Ttbk2 UTSW 2 120,590,736 (GRCm39) missense possibly damaging 0.91
R4039:Ttbk2 UTSW 2 120,576,276 (GRCm39) missense probably benign 0.01
R4060:Ttbk2 UTSW 2 120,579,465 (GRCm39) missense probably benign 0.26
R4624:Ttbk2 UTSW 2 120,603,804 (GRCm39) missense probably benign 0.19
R4634:Ttbk2 UTSW 2 120,570,673 (GRCm39) missense probably damaging 1.00
R4727:Ttbk2 UTSW 2 120,575,851 (GRCm39) missense probably benign 0.01
R4811:Ttbk2 UTSW 2 120,570,551 (GRCm39) missense possibly damaging 0.62
R4962:Ttbk2 UTSW 2 120,575,631 (GRCm39) missense probably damaging 1.00
R4964:Ttbk2 UTSW 2 120,603,758 (GRCm39) missense possibly damaging 0.66
R4966:Ttbk2 UTSW 2 120,603,758 (GRCm39) missense possibly damaging 0.66
R5369:Ttbk2 UTSW 2 120,655,743 (GRCm39) start gained probably benign
R5430:Ttbk2 UTSW 2 120,608,046 (GRCm39) missense probably damaging 1.00
R5607:Ttbk2 UTSW 2 120,637,305 (GRCm39) missense possibly damaging 0.89
R5812:Ttbk2 UTSW 2 120,653,040 (GRCm39) missense probably damaging 0.99
R5898:Ttbk2 UTSW 2 120,575,521 (GRCm39) missense probably benign 0.08
R5951:Ttbk2 UTSW 2 120,603,764 (GRCm39) missense probably benign 0.02
R6135:Ttbk2 UTSW 2 120,580,798 (GRCm39) missense probably damaging 1.00
R6889:Ttbk2 UTSW 2 120,603,834 (GRCm39) missense probably damaging 1.00
R6907:Ttbk2 UTSW 2 120,655,751 (GRCm39) missense probably benign 0.00
R7013:Ttbk2 UTSW 2 120,576,265 (GRCm39) missense possibly damaging 0.89
R7128:Ttbk2 UTSW 2 120,576,569 (GRCm39) missense probably benign 0.00
R7173:Ttbk2 UTSW 2 120,570,592 (GRCm39) missense probably damaging 1.00
R7358:Ttbk2 UTSW 2 120,620,791 (GRCm39) missense probably damaging 1.00
R7475:Ttbk2 UTSW 2 120,579,121 (GRCm39) missense probably benign 0.01
R7891:Ttbk2 UTSW 2 120,616,510 (GRCm39) missense probably damaging 1.00
R8529:Ttbk2 UTSW 2 120,604,338 (GRCm39) missense possibly damaging 0.67
R9050:Ttbk2 UTSW 2 120,637,319 (GRCm39) missense probably benign 0.09
R9051:Ttbk2 UTSW 2 120,575,911 (GRCm39) nonsense probably null
R9372:Ttbk2 UTSW 2 120,603,766 (GRCm39) missense probably benign 0.31
R9485:Ttbk2 UTSW 2 120,575,986 (GRCm39) missense probably benign 0.32
R9675:Ttbk2 UTSW 2 120,637,241 (GRCm39) missense probably benign 0.14
RF010:Ttbk2 UTSW 2 120,620,820 (GRCm39) nonsense probably null
RF021:Ttbk2 UTSW 2 120,579,115 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAAGAAGATCTCACGCCTTTCC -3'
(R):5'- ATGCAAGAGCCCAGGATCTC -3'

Sequencing Primer
(F):5'- ACGCCTTTCCCAGAGATGTAG -3'
(R):5'- CAAGAGTCCAGTTGTACCTCG -3'
Posted On 2015-10-21