Incidental Mutation 'R7850:Tubb2a'
ID 606892
Institutional Source Beutler Lab
Gene Symbol Tubb2a
Ensembl Gene ENSMUSG00000058672
Gene Name tubulin, beta 2A class IIA
Synonyms
MMRRC Submission 045903-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7850 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34258261-34261991 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34258554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 412 (E412G)
Ref Sequence ENSEMBL: ENSMUSP00000060246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000056427]
AlphaFold Q7TMM9
Predicted Effect probably benign
Transcript: ENSMUST00000040656
SMART Domains Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Pfam:Hydrolase_4 57 208 1.1e-10 PFAM
Pfam:Abhydrolase_1 61 205 2.8e-22 PFAM
Pfam:Abhydrolase_5 62 273 3.9e-20 PFAM
Pfam:Abhydrolase_6 63 285 6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056427
AA Change: E412G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: E412G

DomainStartEndE-ValueType
Tubulin 47 244 1.64e-65 SMART
Tubulin_C 246 383 2.39e-49 SMART
low complexity region 431 444 N/A INTRINSIC
Meta Mutation Damage Score 0.3823 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,869,328 (GRCm39) D2E probably damaging Het
Abhd16b G A 2: 181,135,518 (GRCm39) R140H not run Het
Acad11 G T 9: 103,991,728 (GRCm39) G588C probably damaging Het
Baz2b C A 2: 59,767,060 (GRCm39) E107D probably damaging Het
Bcas1 A G 2: 170,190,023 (GRCm39) S625P probably damaging Het
Bdp1 T A 13: 100,228,832 (GRCm39) L265F probably damaging Het
Cacna1s A G 1: 135,998,786 (GRCm39) Y227C probably damaging Het
Cacna2d2 G A 9: 107,402,575 (GRCm39) A848T probably benign Het
Cep135 T C 5: 76,739,720 (GRCm39) probably null Het
Cyp2b9 G T 7: 25,886,111 (GRCm39) E93* probably null Het
Dcp2 C A 18: 44,533,415 (GRCm39) S122* probably null Het
Ecel1 A G 1: 87,079,745 (GRCm39) L456P probably damaging Het
Entpd8 T C 2: 24,975,028 (GRCm39) M453T probably damaging Het
Gcc2 T A 10: 58,114,703 (GRCm39) V1084D probably damaging Het
Grem1 A G 2: 113,580,178 (GRCm39) C108R probably damaging Het
Gtf2ird1 T C 5: 134,392,069 (GRCm39) E880G probably benign Het
Hacd2 T A 16: 34,922,477 (GRCm39) M222K probably damaging Het
Htr1b G T 9: 81,514,652 (GRCm39) probably null Het
Htt T G 5: 35,009,631 (GRCm39) probably null Het
Ifnab T G 4: 88,609,133 (GRCm39) D111A probably benign Het
Igsf10 A T 3: 59,227,053 (GRCm39) L2207I probably benign Het
Itln1 T C 1: 171,358,166 (GRCm39) Y194C probably damaging Het
Kmt5b T A 19: 3,865,043 (GRCm39) D702E probably damaging Het
Knop1 T C 7: 118,449,860 (GRCm39) E382G unknown Het
Lrit3 A C 3: 129,594,452 (GRCm39) L42V probably damaging Het
Mug2 A G 6: 122,052,170 (GRCm39) E976G probably damaging Het
Or5an10 T C 19: 12,275,996 (GRCm39) M167V probably benign Het
Or8g28 A T 9: 39,169,518 (GRCm39) I150N possibly damaging Het
Or8s8 G A 15: 98,354,949 (GRCm39) G253R probably damaging Het
Papln A T 12: 83,827,436 (GRCm39) E758V probably damaging Het
Pcnx3 A C 19: 5,728,960 (GRCm39) F967V possibly damaging Het
Pcnx4 G T 12: 72,602,842 (GRCm39) C368F probably benign Het
Pi15 T A 1: 17,673,105 (GRCm39) Y101* probably null Het
Ppp1r9a G A 6: 4,905,894 (GRCm39) V150M possibly damaging Het
Prrt4 A T 6: 29,176,900 (GRCm39) probably null Het
Ptgdr A G 14: 45,090,828 (GRCm39) V310A probably benign Het
Ric1 G A 19: 29,572,293 (GRCm39) S696N probably benign Het
Setx T A 2: 29,037,430 (GRCm39) V1305D probably damaging Het
Slk G A 19: 47,610,796 (GRCm39) R822H probably damaging Het
Tas2r135 T A 6: 42,383,072 (GRCm39) F204I probably benign Het
Tcaf3 A T 6: 42,571,140 (GRCm39) probably null Het
Tmtc2 A G 10: 105,409,568 (GRCm39) Y15H probably benign Het
Treml2 T C 17: 48,615,168 (GRCm39) S218P probably benign Het
Usp48 T G 4: 137,333,060 (GRCm39) probably null Het
Vmn2r25 A T 6: 123,805,431 (GRCm39) N475K probably damaging Het
Zscan4-ps1 G A 7: 10,799,735 (GRCm39) H385Y probably benign Het
Other mutations in Tubb2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01683:Tubb2a APN 13 34,260,530 (GRCm39) critical splice donor site probably null
R0233:Tubb2a UTSW 13 34,259,325 (GRCm39) missense possibly damaging 0.50
R0233:Tubb2a UTSW 13 34,259,325 (GRCm39) missense possibly damaging 0.50
R0345:Tubb2a UTSW 13 34,260,620 (GRCm39) missense probably benign
R2033:Tubb2a UTSW 13 34,259,439 (GRCm39) missense probably damaging 1.00
R3732:Tubb2a UTSW 13 34,259,247 (GRCm39) missense probably damaging 1.00
R3836:Tubb2a UTSW 13 34,259,294 (GRCm39) missense probably benign 0.30
R3837:Tubb2a UTSW 13 34,259,294 (GRCm39) missense probably benign 0.30
R3839:Tubb2a UTSW 13 34,259,294 (GRCm39) missense probably benign 0.30
R4879:Tubb2a UTSW 13 34,258,572 (GRCm39) missense probably benign 0.02
R4936:Tubb2a UTSW 13 34,259,240 (GRCm39) nonsense probably null
R5537:Tubb2a UTSW 13 34,259,434 (GRCm39) missense probably benign 0.07
R5889:Tubb2a UTSW 13 34,259,451 (GRCm39) missense possibly damaging 0.92
R6102:Tubb2a UTSW 13 34,259,326 (GRCm39) missense probably benign 0.00
R6475:Tubb2a UTSW 13 34,259,442 (GRCm39) missense possibly damaging 0.91
R7206:Tubb2a UTSW 13 34,259,505 (GRCm39) missense possibly damaging 0.80
R7254:Tubb2a UTSW 13 34,258,515 (GRCm39) missense probably damaging 1.00
R7260:Tubb2a UTSW 13 34,259,397 (GRCm39) missense probably damaging 1.00
R7631:Tubb2a UTSW 13 34,259,227 (GRCm39) missense probably damaging 0.99
R7734:Tubb2a UTSW 13 34,258,776 (GRCm39) missense probably benign 0.06
R7815:Tubb2a UTSW 13 34,258,962 (GRCm39) missense probably benign 0.10
R9091:Tubb2a UTSW 13 34,258,578 (GRCm39) missense probably damaging 1.00
R9170:Tubb2a UTSW 13 34,260,628 (GRCm39) missense probably benign
R9270:Tubb2a UTSW 13 34,258,578 (GRCm39) missense probably damaging 1.00
R9799:Tubb2a UTSW 13 34,260,607 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGACAGAGGCAAACTGAGC -3'
(R):5'- GTGGATCCCCAACAACGTCAAG -3'

Sequencing Primer
(F):5'- GAGGCAAACTGAGCACCATAATTTAC -3'
(R):5'- AGACGGCCGTGTGTGACATC -3'
Posted On 2019-12-20