Incidental Mutation 'R6434:Tubb2b'
ID 518719
Institutional Source Beutler Lab
Gene Symbol Tubb2b
Ensembl Gene ENSMUSG00000045136
Gene Name tubulin, beta 2B class IIB
Synonyms brdp, 2410129E14Rik
MMRRC Submission 044572-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # R6434 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34310991-34314337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34311561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 411 (A411T)
Ref Sequence ENSEMBL: ENSMUSP00000075178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075774]
AlphaFold Q9CWF2
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: 52,109,190 (GRCm39) probably null Het
Ankle2 A G 5: 110,401,759 (GRCm39) Y807C probably damaging Het
Arhgef26 A C 3: 62,336,335 (GRCm39) M625L probably damaging Het
Aspdh G A 7: 44,116,474 (GRCm39) A86T probably damaging Het
Atl1 G T 12: 70,006,199 (GRCm39) E502* probably null Het
Atp6v1c1 T C 15: 38,677,790 (GRCm39) F105S probably damaging Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
Ccdc81 T C 7: 89,525,352 (GRCm39) Y474C probably damaging Het
Ccdc82 T C 9: 13,251,659 (GRCm39) probably benign Het
Ccdc96 T G 5: 36,643,707 (GRCm39) V571G probably damaging Het
Col6a5 C A 9: 105,814,544 (GRCm39) E489D unknown Het
Dchs2 T A 3: 83,176,577 (GRCm39) I845N probably damaging Het
Dnajc11 T C 4: 152,063,751 (GRCm39) V449A probably damaging Het
Ect2 A T 3: 27,193,268 (GRCm39) Y269* probably null Het
Egfr T C 11: 16,819,294 (GRCm39) Y275H probably benign Het
Fan1 T A 7: 64,004,129 (GRCm39) D779V probably damaging Het
Fancm T C 12: 65,123,942 (GRCm39) V200A probably damaging Het
Frem1 A G 4: 82,884,253 (GRCm39) I1214T probably benign Het
Gm3415 T A 5: 146,494,752 (GRCm39) F138L probably benign Het
Gtse1 C A 15: 85,759,370 (GRCm39) T626K probably benign Het
Herc1 T A 9: 66,393,464 (GRCm39) H4114Q probably damaging Het
Ifi44 T A 3: 151,454,826 (GRCm39) N133I probably benign Het
Ilf3 A G 9: 21,314,447 (GRCm39) probably benign Het
Inpp4a A G 1: 37,437,919 (GRCm39) T593A probably damaging Het
Iqgap2 A T 13: 95,819,441 (GRCm39) W634R possibly damaging Het
Kcnh4 T A 11: 100,641,105 (GRCm39) N448I probably damaging Het
Klhl33 G A 14: 51,130,564 (GRCm39) A310V probably damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lrig2 T C 3: 104,398,863 (GRCm39) K222E possibly damaging Het
Manba G A 3: 135,217,734 (GRCm39) probably null Het
Mga A T 2: 119,754,419 (GRCm39) Q976L probably damaging Het
Mtmr4 A G 11: 87,504,309 (GRCm39) D1086G probably damaging Het
Muc20 A G 16: 32,615,176 (GRCm39) V67A probably benign Het
Myh3 T A 11: 66,973,193 (GRCm39) L97Q probably damaging Het
Nars1 T C 18: 64,640,872 (GRCm39) T195A probably benign Het
Npat A T 9: 53,474,739 (GRCm39) I844L possibly damaging Het
Nrxn3 T C 12: 88,762,285 (GRCm39) F111L probably benign Het
Obp2b T C 2: 25,628,599 (GRCm39) Y118H probably damaging Het
Or5w1 T A 2: 87,486,558 (GRCm39) K236* probably null Het
Or7e170 A T 9: 19,795,141 (GRCm39) Y153* probably null Het
Patj A G 4: 98,379,866 (GRCm39) D215G probably damaging Het
Pex1 T A 5: 3,680,196 (GRCm39) Y979* probably null Het
Septin3 G A 15: 82,163,804 (GRCm39) V54I possibly damaging Het
Shc3 A G 13: 51,603,326 (GRCm39) Y260H probably damaging Het
Simc1 A G 13: 54,674,477 (GRCm39) T942A probably benign Het
Slco1c1 T C 6: 141,493,576 (GRCm39) S371P probably damaging Het
Snrnp200 T A 2: 127,080,574 (GRCm39) I2029N probably damaging Het
Syne1 A G 10: 5,268,422 (GRCm39) V2089A probably benign Het
Syne2 T C 12: 76,088,230 (GRCm39) S5016P probably damaging Het
Tril G C 6: 53,795,493 (GRCm39) D576E probably damaging Het
Ubr4 T C 4: 139,156,949 (GRCm39) Y2325H probably damaging Het
Utp20 A T 10: 88,608,395 (GRCm39) C1547* probably null Het
Utrn A T 10: 12,401,171 (GRCm39) W98R probably damaging Het
Vps35 C T 8: 86,000,124 (GRCm39) D501N possibly damaging Het
Wdr48 T C 9: 119,745,879 (GRCm39) S421P possibly damaging Het
Yju2b A G 8: 84,989,630 (GRCm39) I63T probably damaging Het
Zfp719 C A 7: 43,240,412 (GRCm39) H667N probably damaging Het
Other mutations in Tubb2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Tubb2b APN 13 34,312,329 (GRCm39) missense probably benign 0.00
IGL00575:Tubb2b APN 13 34,313,244 (GRCm39) missense probably damaging 0.99
R1246:Tubb2b UTSW 13 34,312,130 (GRCm39) missense possibly damaging 0.79
R2055:Tubb2b UTSW 13 34,311,708 (GRCm39) missense probably benign 0.02
R2071:Tubb2b UTSW 13 34,312,244 (GRCm39) missense probably damaging 1.00
R2252:Tubb2b UTSW 13 34,314,198 (GRCm39) missense possibly damaging 0.77
R2402:Tubb2b UTSW 13 34,312,209 (GRCm39) missense probably benign 0.05
R4905:Tubb2b UTSW 13 34,312,187 (GRCm39) missense probably damaging 1.00
R4928:Tubb2b UTSW 13 34,312,168 (GRCm39) nonsense probably null
R5635:Tubb2b UTSW 13 34,312,180 (GRCm39) missense probably damaging 1.00
R6349:Tubb2b UTSW 13 34,311,528 (GRCm39) missense probably damaging 1.00
R6994:Tubb2b UTSW 13 34,311,518 (GRCm39) missense probably damaging 1.00
R7666:Tubb2b UTSW 13 34,312,118 (GRCm39) missense probably damaging 1.00
R8936:Tubb2b UTSW 13 34,312,445 (GRCm39) missense probably damaging 1.00
R9610:Tubb2b UTSW 13 34,311,742 (GRCm39) missense probably damaging 1.00
R9611:Tubb2b UTSW 13 34,311,742 (GRCm39) missense probably damaging 1.00
R9787:Tubb2b UTSW 13 34,312,409 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- AGGTATTTTCACAGATTAAGCCCC -3'
(R):5'- AGCAGCTACTTCGTGGAGTG -3'

Sequencing Primer
(F):5'- CCCCACCCCCTCCTTTCATC -3'
(R):5'- GGAGTGGATCCCCAACAACG -3'
Posted On 2018-05-24