Incidental Mutation 'R9050:Ttbk2'
ID 688282
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 068876-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9050 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120637319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 115 (N115K)
Ref Sequence ENSEMBL: ENSMUSP00000028740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably benign
Transcript: ENSMUST00000028740
AA Change: N115K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: N115K

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: N46K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: N46K

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: N46K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: N46K

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: ENSMUST00000131389
AA Change: N46K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: N46K

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 benign
Transcript: ENSMUST00000143051
AA Change: N46K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: N46K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,208,605 (GRCm39) Y332H probably benign Het
Apoc3 A G 9: 46,144,592 (GRCm39) F77L probably benign Het
Atp5f1c A T 2: 10,069,049 (GRCm39) D99E probably damaging Het
Atxn3 A T 12: 101,924,387 (GRCm39) probably benign Het
Calcoco1 A G 15: 102,618,400 (GRCm39) V463A probably damaging Het
Cby3 A G 11: 50,248,617 (GRCm39) T20A possibly damaging Het
Cdhr2 A G 13: 54,883,133 (GRCm39) D1256G probably benign Het
Cep350 A T 1: 155,738,687 (GRCm39) D2385E possibly damaging Het
Clec9a G C 6: 129,396,561 (GRCm39) A170P possibly damaging Het
Col5a3 C T 9: 20,697,691 (GRCm39) G871S probably damaging Het
Fmo4 A G 1: 162,635,099 (GRCm39) S159P probably benign Het
Gabbr2 A G 4: 46,798,659 (GRCm39) F272L probably benign Het
Glp1r G A 17: 31,137,892 (GRCm39) G108S probably damaging Het
Herpud1 T C 8: 95,117,454 (GRCm39) S13P probably benign Het
Hps5 T C 7: 46,422,607 (GRCm39) D574G probably benign Het
Il7 A G 3: 7,669,170 (GRCm39) V22A possibly damaging Het
Kmt5c A G 7: 4,745,281 (GRCm39) T91A probably benign Het
Mrpl39 A C 16: 84,531,844 (GRCm39) probably benign Het
Mtr T C 13: 12,231,748 (GRCm39) D652G probably null Het
Neb C T 2: 52,079,901 (GRCm39) V5768M probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nicol1 G C 5: 34,140,874 (GRCm39) A29P unknown Het
Nmrk1 T A 19: 18,618,539 (GRCm39) M74K probably benign Het
Obox8 A G 7: 14,066,870 (GRCm39) L58P unknown Het
Oga T C 19: 45,756,354 (GRCm39) T430A probably damaging Het
Or1o4 A G 17: 37,590,820 (GRCm39) Y164H probably damaging Het
Or2b2 A G 13: 21,887,150 (GRCm39) probably benign Het
Or2y1e T C 11: 49,218,930 (GRCm39) S231P possibly damaging Het
Or5p62 A C 7: 107,771,087 (GRCm39) L288W probably damaging Het
Pcdhb17 T G 18: 37,620,286 (GRCm39) V692G probably damaging Het
Pfas A G 11: 68,882,567 (GRCm39) V829A probably benign Het
Pramel24 A T 4: 143,453,329 (GRCm39) T146S probably benign Het
Pth A G 7: 112,985,043 (GRCm39) V110A probably benign Het
Rabggta T A 14: 55,959,056 (GRCm39) Q37L probably benign Het
Rin3 A G 12: 102,335,738 (GRCm39) T550A probably damaging Het
Scn8a G A 15: 100,906,161 (GRCm39) V785I possibly damaging Het
Sec24d T C 3: 123,144,374 (GRCm39) V617A probably benign Het
Slc47a1 T C 11: 61,235,160 (GRCm39) I558V probably benign Het
Slc6a15 A T 10: 103,252,516 (GRCm39) M560L possibly damaging Het
Slfn9 G A 11: 82,879,120 (GRCm39) T3I probably benign Het
Spag9 A G 11: 93,935,294 (GRCm39) H35R probably damaging Het
Spats2 G T 15: 99,110,010 (GRCm39) R469L possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Ssx2ip C T 3: 146,144,512 (GRCm39) S592L possibly damaging Het
Ston1 A G 17: 88,944,228 (GRCm39) T545A probably benign Het
Suz12 C T 11: 79,913,023 (GRCm39) L379F probably damaging Het
Tbc1d24 C A 17: 24,404,899 (GRCm39) V82L probably benign Het
Tbc1d24 A T 17: 24,404,898 (GRCm39) V82E possibly damaging Het
Thada A G 17: 84,736,629 (GRCm39) I884T probably damaging Het
Tln1 C A 4: 43,549,786 (GRCm39) E542* probably null Het
Togaram2 T C 17: 72,007,878 (GRCm39) L401P probably damaging Het
Tubgcp4 G A 2: 121,004,079 (GRCm39) S40N probably benign Het
Wrn T C 8: 33,833,021 (GRCm39) D157G probably damaging Het
Zer1 A T 2: 30,001,294 (GRCm39) F70Y probably damaging Het
Zfp791 T C 8: 85,837,334 (GRCm39) I177V 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
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
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
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'- CCAGAGTGGTCCATTAGTATAGAG -3'
(R):5'- CTGTAGACAAATCTGTAGGACAGTG -3'

Sequencing Primer
(F):5'- AGCAACTTACCTTGCAGT -3'
(R):5'- TGTGTTTTTCTTGCTGTATAAATGAC -3'
Posted On 2021-11-19