Incidental Mutation 'R3870:Ttbk2'
ID 276485
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 040789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3870 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 120570500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1149 (S1149R)
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: S1218R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: S1218R

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: S1149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: S1149R

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: S1149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: S1149R

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 0.1355 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,880,828 (GRCm39) probably null Het
Adam22 C A 5: 8,182,418 (GRCm39) C514F probably damaging Het
Akap8 G A 17: 32,536,813 (GRCm39) probably benign Het
Armcx2 A T X: 133,707,048 (GRCm39) V195E probably benign Het
Atg7 T C 6: 114,674,008 (GRCm39) S301P possibly damaging Het
Cc2d2a C A 5: 43,876,033 (GRCm39) Y1003* probably null Het
Ccdc93 A G 1: 121,390,843 (GRCm39) S272G probably benign Het
Ces1d C G 8: 93,901,714 (GRCm39) L418F probably benign Het
Cntnap5a A G 1: 115,987,979 (GRCm39) E170G probably damaging Het
Cplane1 A T 15: 8,247,948 (GRCm39) K1499M probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ehd4 T A 2: 119,967,434 (GRCm39) D120V probably damaging Het
Eif4g3 T A 4: 137,824,211 (GRCm39) V71E probably damaging Het
Exoc5 A G 14: 49,256,853 (GRCm39) probably benign Het
Glud1 T A 14: 34,047,537 (GRCm39) probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm11555 G T 11: 99,540,816 (GRCm39) C64* probably null Het
Gm5468 A G 15: 25,414,561 (GRCm39) probably benign Het
Gpatch2 T A 1: 187,054,491 (GRCm39) L74Q probably damaging Het
Hnrnpa0 G A 13: 58,275,713 (GRCm39) R139C probably damaging Het
Hrh1 A G 6: 114,457,880 (GRCm39) Y387C probably damaging Het
Ldb3 A T 14: 34,289,440 (GRCm39) D216E probably damaging Het
Lingo1 A T 9: 56,527,009 (GRCm39) S533T probably benign Het
Lmtk2 T G 5: 144,103,245 (GRCm39) probably benign Het
Map1s A G 8: 71,369,745 (GRCm39) E939G possibly damaging Het
Mast1 G A 8: 85,645,360 (GRCm39) T695I probably damaging Het
Mettl21e G A 1: 44,245,524 (GRCm39) R241W probably benign Het
Mfsd4a G A 1: 131,974,091 (GRCm39) T261I probably damaging Het
Mmel1 T C 4: 154,968,095 (GRCm39) S144P probably benign Het
Myo16 A T 8: 10,492,239 (GRCm39) H727L probably benign Het
Ncoa6 T C 2: 155,257,477 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,690 (GRCm39) R352G probably damaging Het
Oaf C T 9: 43,134,055 (GRCm39) R222Q probably benign Het
Or2ag2b T A 7: 106,418,047 (GRCm39) Y252* probably null Het
Pard3 T C 8: 128,136,167 (GRCm39) S847P probably damaging Het
Pgbd1 C T 13: 21,618,540 (GRCm39) R39H possibly damaging Het
Plcb1 A C 2: 135,167,591 (GRCm39) I462L probably damaging Het
Prex2 T C 1: 11,230,416 (GRCm39) V814A possibly damaging Het
Rasal3 G A 17: 32,612,522 (GRCm39) R780W possibly damaging Het
Rubcnl C T 14: 75,278,356 (GRCm39) P380L probably benign Het
Ryk A G 9: 102,768,427 (GRCm39) E359G probably damaging Het
Sall2 C A 14: 52,551,451 (GRCm39) L579F probably damaging Het
Satb2 A G 1: 56,930,379 (GRCm39) S215P probably damaging Het
Scg3 T C 9: 75,582,781 (GRCm39) probably benign Het
Slc35f5 A G 1: 125,490,098 (GRCm39) T65A probably benign Het
Snx33 T C 9: 56,834,024 (GRCm39) N15S probably benign Het
Stat2 T A 10: 128,113,762 (GRCm39) S180R probably benign Het
Stxbp2 A G 8: 3,684,079 (GRCm39) T129A probably damaging Het
Tas1r3 A T 4: 155,945,810 (GRCm39) C529S probably damaging Het
Tlr12 T A 4: 128,510,361 (GRCm39) M630L probably benign Het
Tnfrsf10b T G 14: 70,010,905 (GRCm39) D103E probably benign Het
Togaram1 A C 12: 65,049,419 (GRCm39) E1285D probably benign Het
Tppp A G 13: 74,178,891 (GRCm39) T111A probably benign Het
Trim12c T C 7: 103,997,544 (GRCm39) Q4R probably benign Het
Uncx T C 5: 139,533,120 (GRCm39) L395P probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm39) S314P possibly damaging Het
Usp32 A T 11: 84,897,881 (GRCm39) Y1153* probably null Het
Vmn2r6 T C 3: 64,464,042 (GRCm39) E264G probably damaging Het
Vmn2r77 T C 7: 86,461,050 (GRCm39) F792S probably damaging Het
Vps13c A G 9: 67,792,008 (GRCm39) I425V probably benign Het
Vstm4 C T 14: 32,585,712 (GRCm39) A93V probably benign Het
Xrcc6 T A 15: 81,909,885 (GRCm39) S97T probably benign Het
Zscan20 A G 4: 128,480,218 (GRCm39) C758R 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
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'- AGGCTGCCAGATCCTTTTGG -3'
(R):5'- TCTCTATTCTTTTAAGGCTACGCAG -3'

Sequencing Primer
(F):5'- TTGCAATGCTCCTGTTGGCAG -3'
(R):5'- AGGCTACGCAGATATAAAGTTCTAG -3'
Posted On 2015-04-06