Incidental Mutation 'R5537:Tubb2a'
ID 434893
Institutional Source Beutler Lab
Gene Symbol Tubb2a
Ensembl Gene ENSMUSG00000058672
Gene Name tubulin, beta 2A class IIA
Synonyms
MMRRC Submission 043095-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5537 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 34258261-34261991 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34259434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 119 (V119L)
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 benign
Transcript: ENSMUST00000056427
AA Change: V119L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: V119L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223251
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 9,005,485 (GRCm39) I1123F probably damaging Het
Acsl3 C T 1: 78,684,073 (GRCm39) R702C probably damaging Het
Ank1 A G 8: 23,604,892 (GRCm39) E1031G probably damaging Het
Ankle2 T C 5: 110,397,361 (GRCm39) S536P probably damaging Het
Arfgef2 G T 2: 166,698,513 (GRCm39) probably null Het
Bahd1 G T 2: 118,746,461 (GRCm39) D27Y probably damaging Het
Brinp2 C T 1: 158,082,583 (GRCm39) V246I probably damaging Het
Ccdc187 C A 2: 26,166,237 (GRCm39) A731S probably benign Het
Cdc37l1 T A 19: 28,972,518 (GRCm39) N70K probably damaging Het
Cdk5r1 A G 11: 80,368,825 (GRCm39) Y164C probably damaging Het
Clrn3 A T 7: 135,115,791 (GRCm39) H186Q probably benign Het
Col12a1 G A 9: 79,606,872 (GRCm39) T517I probably damaging Het
Crhr1 T A 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Dst C T 1: 34,228,959 (GRCm39) S2362L probably benign Het
Eapp G A 12: 54,738,844 (GRCm39) T98I probably benign Het
Iqsec3 T C 6: 121,389,603 (GRCm39) probably benign Het
Kctd12 A G 14: 103,219,713 (GRCm39) V55A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lgr5 T C 10: 115,292,594 (GRCm39) D432G probably benign Het
Mrgprx1 T A 7: 47,670,898 (GRCm39) H283L probably benign Het
Nlrp4e T C 7: 23,019,914 (GRCm39) F134L probably benign Het
Or1e34 T C 11: 73,778,523 (GRCm39) K225R probably benign Het
Or4f14b A T 2: 111,775,393 (GRCm39) M136K probably damaging Het
Or5m5 T A 2: 85,814,570 (GRCm39) Y129N possibly damaging Het
Or8b43 T A 9: 38,360,538 (GRCm39) Y123* probably null Het
Pfkp C A 13: 6,669,278 (GRCm39) W235L probably damaging Het
Prom1 C T 5: 44,158,118 (GRCm39) probably null Het
Psma5-ps A G 10: 85,149,913 (GRCm39) noncoding transcript Het
Rab14 A T 2: 35,082,649 (GRCm39) F12L possibly damaging Het
Rnf40 T A 7: 127,195,261 (GRCm39) I429N probably benign Het
S100pbp G A 4: 129,075,981 (GRCm39) P115S probably benign Het
Scarf1 G A 11: 75,416,357 (GRCm39) A600T probably damaging Het
Slc6a5 T C 7: 49,609,059 (GRCm39) F755L probably benign Het
Slc7a2 A T 8: 41,367,023 (GRCm39) I510F probably benign Het
Spag16 T C 1: 69,866,175 (GRCm39) S5P probably benign Het
Tex15 A G 8: 34,061,641 (GRCm39) Y631C probably damaging Het
Tmem182 A T 1: 40,894,069 (GRCm39) I195F probably benign Het
Tox A G 4: 6,697,510 (GRCm39) L431P probably damaging Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Tsg101 T C 7: 46,540,876 (GRCm39) K294E probably benign Het
Vps37d C T 5: 135,103,256 (GRCm39) E129K possibly damaging Het
Zfp974 TAATCTGTCTCCAAATCTG TAATCTG 7: 27,611,671 (GRCm39) probably benign Het
Zpld1 A G 16: 55,054,003 (GRCm39) V263A possibly damaging 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
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
R7850:Tubb2a UTSW 13 34,258,554 (GRCm39) missense probably damaging 1.00
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'- ATCTGTGTTCTCTACCAGCTGG -3'
(R):5'- ACTGAATGTTCTCTAAGGCCAC -3'

Sequencing Primer
(F):5'- CCACAGTATCAGAGACCTTGGGTG -3'
(R):5'- GAATGTTCTCTAAGGCCACTTCTAC -3'
Posted On 2016-10-24