Mutagenetix > Incidental Mutation

Incidental Mutation 'R1246:Tubb2b'

152158

Institutional Source

Beutler Lab

Gene Symbol

Tubb2b

Ensembl Gene

ENSMUSG00000045136

Gene Name

tubulin, beta 2B class IIB

Synonyms

brdp, 2410129E14Rik

MMRRC Submission

039313-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R1246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34310991-34314337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34312130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 221 (T221I)

Ref Sequence

ENSEMBL: ENSMUSP00000075178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075774]

AlphaFold

Q9CWF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075774
AA Change: T221I

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075178
Gene: ENSMUSG00000045136
AA Change: T221I

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,803 (GRCm39)	D71G	unknown	Het
Gm11563	T	C	11: 99,549,674 (GRCm39)	T27A	unknown	Het
Gm7361	G	T	5: 26,466,225 (GRCm39)	E196*	probably null	Het
Ltbp1	T	A	17: 75,692,156 (GRCm39)	Y1273*	probably null	Het
Nol8	T	A	13: 49,830,245 (GRCm39)	W1110R	probably damaging	Het
Or52b4	T	A	7: 102,184,149 (GRCm39)	L65H	probably damaging	Het
Or56b2	C	A	7: 104,337,371 (GRCm39)	L50I	possibly damaging	Het
Or8b1	T	C	9: 38,400,086 (GRCm39)	S254P	probably damaging	Het
Pde4d	T	A	13: 110,087,507 (GRCm39)	W625R	probably damaging	Het
Pigg	T	C	5: 108,489,686 (GRCm39)	Y631H	probably damaging	Het
Pik3cd	A	G	4: 149,744,257 (GRCm39)	Y165H	probably damaging	Het
Rap1gap	A	G	4: 137,439,405 (GRCm39)	E114G	possibly damaging	Het
Ythdf2	G	A	4: 131,932,182 (GRCm39)	T326M	probably benign	Het
Zzef1	A	G	11: 72,765,735 (GRCm39)	I1421V	probably benign	Het

Other mutations in Tubb2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6434:Tubb2b	UTSW	13	34,311,561 (GRCm39)	missense	probably damaging	0.99
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'- GCAGCCATCATGTTCTTGGAGTCG -3'
(R):5'- ATGAACACCTTCAGCGTCATGCCC -3'

Sequencing Primer
(F):5'- CATGTTCTTGGAGTCGAACATC -3'
(R):5'- GTCATGCCCTCACCCAAGG -3'

Posted On

2014-01-29