Incidental Mutation 'R6434:Tubb2b'
ID518719
Institutional Source Beutler Lab
Gene Symbol Tubb2b
Ensembl Gene ENSMUSG00000045136
Gene Nametubulin, beta 2B class IIB
Synonyms2410129E14Rik, brdp
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.840) question?
Stock #R6434 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location34126748-34130466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34127578 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 411 (A411T)
Ref Sequence ENSEMBL: ENSMUSP00000075178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075774]
Predicted Effect probably damaging
Transcript: ENSMUST00000075774
AA Change: A411T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075178
Gene: ENSMUSG00000045136
AA Change: A411T

DomainStartEndE-ValueType
Tubulin 47 244 2.93e-67 SMART
Tubulin_C 246 383 2.39e-49 SMART
low complexity region 431 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220744
Meta Mutation Damage Score 0.5136 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit mild hydroencephaly, telencephalon dysmorphology, a small olfactory bulb and prenatal lethality. Mice heterozygous for this mutation exhibit hyperactivity, reduced fertility and abnormal cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam A C 16: 52,288,827 probably null Het
Ankle2 A G 5: 110,253,893 Y807C probably damaging Het
Arhgef26 A C 3: 62,428,914 M625L probably damaging Het
Aspdh G A 7: 44,467,050 A86T probably damaging Het
Atl1 G T 12: 69,959,425 E502* probably null Het
Atp6v1c1 T C 15: 38,677,546 F105S probably damaging Het
Auh C A 13: 52,929,410 G17C probably benign Het
Ccdc130 A G 8: 84,263,001 I63T probably damaging Het
Ccdc81 T C 7: 89,876,144 Y474C probably damaging Het
Ccdc82 T C 9: 13,252,034 probably benign Het
Ccdc96 T G 5: 36,486,363 V571G probably damaging Het
Col6a5 C A 9: 105,937,345 E489D unknown Het
Dchs2 T A 3: 83,269,270 I845N probably damaging Het
Dnajc11 T C 4: 151,979,294 V449A probably damaging Het
Ect2 A T 3: 27,139,119 Y269* probably null Het
Egfr T C 11: 16,869,294 Y275H probably benign Het
Fan1 T A 7: 64,354,381 D779V probably damaging Het
Fancm T C 12: 65,077,168 V200A probably damaging Het
Frem1 A G 4: 82,966,016 I1214T probably benign Het
Gm3415 T A 5: 146,557,942 F138L probably benign Het
Gtse1 C A 15: 85,875,169 T626K probably benign Het
Herc1 T A 9: 66,486,182 H4114Q probably damaging Het
Ifi44 T A 3: 151,749,189 N133I probably benign Het
Ilf3 A G 9: 21,403,151 probably benign Het
Inpp4a A G 1: 37,398,838 T593A probably damaging Het
Iqgap2 A T 13: 95,682,933 W634R possibly damaging Het
Kcnh4 T A 11: 100,750,279 N448I probably damaging Het
Klhl33 G A 14: 50,893,107 A310V probably damaging Het
Klra9 G T 6: 130,179,032 Y253* probably null Het
Lrig2 T C 3: 104,491,547 K222E possibly damaging Het
Manba G A 3: 135,511,973 probably null Het
Mga A T 2: 119,923,938 Q976L probably damaging Het
Mtmr4 A G 11: 87,613,483 D1086G probably damaging Het
Muc20 A G 16: 32,794,806 V67A probably benign Het
Myh3 T A 11: 67,082,367 L97Q probably damaging Het
Nars T C 18: 64,507,801 T195A probably benign Het
Npat A T 9: 53,563,439 I844L possibly damaging Het
Nrxn3 T C 12: 88,795,515 F111L probably benign Het
Obp2b T C 2: 25,738,587 Y118H probably damaging Het
Olfr1134 T A 2: 87,656,214 K236* probably null Het
Olfr862 A T 9: 19,883,845 Y153* probably null Het
Patj A G 4: 98,491,629 D215G probably damaging Het
Pex1 T A 5: 3,630,196 Y979* probably null Het
Sept3 G A 15: 82,279,603 V54I possibly damaging Het
Shc3 A G 13: 51,449,290 Y260H probably damaging Het
Simc1 A G 13: 54,526,664 T942A probably benign Het
Slco1c1 T C 6: 141,547,850 S371P probably damaging Het
Snrnp200 T A 2: 127,238,654 I2029N probably damaging Het
Syne1 A G 10: 5,318,422 V2089A probably benign Het
Syne2 T C 12: 76,041,456 S5016P probably damaging Het
Tril G C 6: 53,818,508 D576E probably damaging Het
Ubr4 T C 4: 139,429,638 Y2325H probably damaging Het
Utp20 A T 10: 88,772,533 C1547* probably null Het
Utrn A T 10: 12,525,427 W98R probably damaging Het
Vps35 C T 8: 85,273,495 D501N possibly damaging Het
Wdr48 T C 9: 119,916,813 S421P possibly damaging Het
Zfp719 C A 7: 43,590,988 H667N probably damaging Het
Other mutations in Tubb2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Tubb2b APN 13 34128346 missense probably benign 0.00
IGL00575:Tubb2b APN 13 34129261 missense probably damaging 0.99
R1246:Tubb2b UTSW 13 34128147 missense possibly damaging 0.79
R2055:Tubb2b UTSW 13 34127725 missense probably benign 0.02
R2071:Tubb2b UTSW 13 34128261 missense probably damaging 1.00
R2252:Tubb2b UTSW 13 34130215 missense possibly damaging 0.77
R2402:Tubb2b UTSW 13 34128226 missense probably benign 0.05
R4905:Tubb2b UTSW 13 34128204 missense probably damaging 1.00
R4928:Tubb2b UTSW 13 34128185 nonsense probably null
R5635:Tubb2b UTSW 13 34128197 missense probably damaging 1.00
R6349:Tubb2b UTSW 13 34127545 missense probably damaging 1.00
R6994:Tubb2b UTSW 13 34127535 missense probably damaging 1.00
R7666:Tubb2b UTSW 13 34128135 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTATTTTCACAGATTAAGCCCC -3'
(R):5'- AGCAGCTACTTCGTGGAGTG -3'

Sequencing Primer
(F):5'- CCCCACCCCCTCCTTTCATC -3'
(R):5'- GGAGTGGATCCCCAACAACG -3'
Posted On2018-05-24