Incidental Mutation 'R2893:Ttbk2'
ID 260654
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 040481-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2893 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation splice site (61 bp from exon)
DNA Base Change (assembly) C to A at 120576091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably benign
Transcript: ENSMUST00000028740
AA Change: G962V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: G962V

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 benign
Transcript: ENSMUST00000057135
AA Change: G893V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: G893V

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 benign
Transcript: ENSMUST00000085840
AA Change: G893V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: G893V

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 null
Transcript: ENSMUST00000131389
SMART Domains Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100

DomainStartEndE-ValueType
Pfam:Pkinase 21 145 1.3e-18 PFAM
Pfam:Pkinase_Tyr 21 148 9.7e-12 PFAM
Pfam:Pkinase 145 239 1.2e-5 PFAM
low complexity region 265 279 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000143051
SMART Domains Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 2.4e-32 PFAM
Pfam:Pkinase_Tyr 21 280 7.7e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abl1 T G 2: 31,687,624 (GRCm39) S521R probably benign Het
Acox3 A G 5: 35,757,192 (GRCm39) I344V probably benign Het
Ank2 T C 3: 127,041,892 (GRCm39) probably null Het
Atoh8 A T 6: 72,211,856 (GRCm39) F98Y probably benign Het
Caskin2 C T 11: 115,692,103 (GRCm39) G894E probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cdk5rap2 T C 4: 70,208,110 (GRCm39) K779E probably benign Het
Csmd2 T A 4: 128,432,786 (GRCm39) probably null Het
Cubn T C 2: 13,362,950 (GRCm39) D1687G possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Faap100 T C 11: 120,265,451 (GRCm39) D475G probably damaging Het
Fhip2a C T 19: 57,372,601 (GRCm39) P617L probably benign Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Ikbke G A 1: 131,197,961 (GRCm39) P382S probably damaging Het
Il4i1 A G 7: 44,487,414 (GRCm39) I130V probably damaging Het
Islr2 A T 9: 58,105,149 (GRCm39) S704T probably damaging Het
Itga10 A G 3: 96,562,416 (GRCm39) N733D probably benign Het
Itih2 C T 2: 10,107,008 (GRCm39) G662D possibly damaging Het
Kansl1l T C 1: 66,840,493 (GRCm39) Q269R probably damaging Het
Kcnj3 A T 2: 55,337,027 (GRCm39) I298F probably damaging Het
Kdr A G 5: 76,107,496 (GRCm39) F1016L probably damaging Het
Miga2 A T 2: 30,268,306 (GRCm39) probably null Het
Or51ai2 A T 7: 103,587,389 (GRCm39) R267S probably damaging Het
Per2 C A 1: 91,373,325 (GRCm39) Q154H probably damaging Het
Pik3ap1 G A 19: 41,364,500 (GRCm39) A73V probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Psma5-ps T C 10: 85,149,848 (GRCm39) noncoding transcript Het
Rad18 G A 6: 112,652,734 (GRCm39) Q288* probably null Het
Rapsn A T 2: 90,867,169 (GRCm39) D157V probably damaging Het
Slc2a8 A T 2: 32,864,966 (GRCm39) W394R probably damaging Het
Srcap T C 7: 127,138,237 (GRCm39) S1136P probably damaging Het
Tenm4 T A 7: 96,544,197 (GRCm39) V2108D probably damaging Het
Trappc10 C T 10: 78,029,235 (GRCm39) V1101M probably benign Het
Usp8 A T 2: 126,600,075 (GRCm39) Q998L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r80 T C 10: 78,984,699 (GRCm39) F17S possibly 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
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
R4708:Ttbk2 UTSW 2 120,570,342 (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'- TGTGCTAAAACAGGGATCCGG -3'
(R):5'- AGTTAGCTGCCACAGAACCTC -3'

Sequencing Primer
(F):5'- GCTGTGCCTGGTCACAAAG -3'
(R):5'- CTGTAGTGTGCTACCAAATCAGGAC -3'
Posted On 2015-01-23