Mutagenetix > Incidental Mutation

Incidental Mutation 'R1251:Bcat2'

151755

Institutional Source

Beutler Lab

Gene Symbol

Bcat2

Ensembl Gene

ENSMUSG00000030826

Gene Name

branched chain aminotransferase 2, mitochondrial

Synonyms

Eca40, Bcat-2

MMRRC Submission

039318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45219773-45239134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45225410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 56 (L56R)

Ref Sequence

ENSEMBL: ENSMUSP00000147628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000120864] [ENSMUST00000209204] [ENSMUST00000210811] [ENSMUST00000211173]

AlphaFold

O35855

Predicted Effect

probably damaging
Transcript: ENSMUST00000033098
AA Change: L96R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: L96R

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	101	351	5.4e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120864
AA Change: L96R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: L96R

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	119	370	7.6e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209204
AA Change: L56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209569

Predicted Effect

probably damaging
Transcript: ENSMUST00000210811
AA Change: L56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211173
AA Change: L56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210383

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acap2	A	T	16: 30,926,989 (GRCm39)	Y509N	probably damaging	Het
Adcy9	T	A	16: 4,129,395 (GRCm39)	E497V	probably damaging	Het
Ccdc146	T	C	5: 21,498,370 (GRCm39)	M952V	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cfap46	C	T	7: 139,181,181 (GRCm39)	V2607I	probably benign	Het
Clec18a	T	C	8: 111,808,270 (GRCm39)	I54V	possibly damaging	Het
Coil	A	G	11: 88,873,125 (GRCm39)	E455G	possibly damaging	Het
Copg1	A	T	6: 87,866,989 (GRCm39)	K75*	probably null	Het
Cyp2j12	G	A	4: 96,003,903 (GRCm39)	Q238*	probably null	Het
Eif3i	T	C	4: 129,487,178 (GRCm39)	E229G	probably damaging	Het
Exoc2	T	A	13: 31,070,259 (GRCm39)	N411Y	probably benign	Het
Eya2	T	A	2: 165,596,404 (GRCm39)	M305K	probably damaging	Het
Faim	C	T	9: 98,874,687 (GRCm39)	T78M	probably damaging	Het
Fgg	T	A	3: 82,920,287 (GRCm39)	D355E	probably benign	Het
Foxn1	A	G	11: 78,249,611 (GRCm39)	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,371,770 (GRCm39)	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,235,582 (GRCm39)	R21G	probably damaging	Het
Ilrun	C	T	17: 28,005,044 (GRCm39)		probably null	Het
Inpp4b	G	A	8: 82,617,382 (GRCm39)	G220R	probably benign	Het
Irx6	A	G	8: 93,404,881 (GRCm39)	S250G	possibly damaging	Het
Lyst	T	C	13: 13,809,068 (GRCm39)	I246T	probably benign	Het
Mcm3	G	A	1: 20,882,896 (GRCm39)	Q353*	probably null	Het
Mfhas1	A	G	8: 36,058,207 (GRCm39)	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,360,492 (GRCm39)	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,284,205 (GRCm39)	S160T	possibly damaging	Het
Npc2	A	G	12: 84,807,658 (GRCm39)	S67P	probably damaging	Het
Or5e1	T	G	7: 108,354,114 (GRCm39)	F17C	probably damaging	Het
Or5m9b	G	A	2: 85,905,164 (GRCm39)	V27M	probably benign	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Phf21a	G	A	2: 92,189,544 (GRCm39)	S601N	probably benign	Het
Pold1	C	T	7: 44,184,475 (GRCm39)	V842I	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Setd1a	T	A	7: 127,396,596 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,121 (GRCm39)		probably null	Het
Sult2a8	T	A	7: 14,159,350 (GRCm39)	K90*	probably null	Het
Tlr2	T	C	3: 83,745,576 (GRCm39)	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,767,655 (GRCm39)	F153S	probably benign	Het
Tube1	G	T	10: 39,010,204 (GRCm39)	G10*	probably null	Het
Vmn2r10	T	C	5: 109,143,890 (GRCm39)	M687V	probably benign	Het
Zc3h8	G	A	2: 128,777,289 (GRCm39)	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089 (GRCm39)	D18E	probably damaging	Het

Other mutations in Bcat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Bcat2	APN	7	45,237,684 (GRCm39)	missense	probably damaging	0.97
IGL02383:Bcat2	APN	7	45,237,431 (GRCm39)	missense	probably damaging	1.00
IGL03157:Bcat2	APN	7	45,224,922 (GRCm39)	missense	probably benign
IGL03226:Bcat2	APN	7	45,237,778 (GRCm39)	missense	probably damaging	1.00
Bearcat	UTSW	7	45,237,792 (GRCm39)	missense	possibly damaging	0.76
prematurely	UTSW	7	45,237,446 (GRCm39)	critical splice donor site	probably null
skunkbear	UTSW	7	45,225,294 (GRCm39)	missense	probably damaging	0.99
P0022:Bcat2	UTSW	7	45,237,769 (GRCm39)	missense	probably damaging	1.00
R1940:Bcat2	UTSW	7	45,237,792 (GRCm39)	missense	possibly damaging	0.76
R5446:Bcat2	UTSW	7	45,234,569 (GRCm39)	missense	possibly damaging	0.88
R6243:Bcat2	UTSW	7	45,237,691 (GRCm39)	missense	probably benign	0.19
R6932:Bcat2	UTSW	7	45,238,745 (GRCm39)	missense	probably damaging	0.98
R7336:Bcat2	UTSW	7	45,224,909 (GRCm39)	missense	probably benign	0.00
R7434:Bcat2	UTSW	7	45,225,429 (GRCm39)	splice site	probably null
R7645:Bcat2	UTSW	7	45,237,387 (GRCm39)	missense	probably benign	0.04
R7732:Bcat2	UTSW	7	45,234,617 (GRCm39)	missense	possibly damaging	0.65
R7736:Bcat2	UTSW	7	45,234,617 (GRCm39)	missense	possibly damaging	0.65
R8140:Bcat2	UTSW	7	45,237,775 (GRCm39)	missense	probably damaging	1.00
R8474:Bcat2	UTSW	7	45,237,075 (GRCm39)	missense	probably damaging	1.00
R8782:Bcat2	UTSW	7	45,234,917 (GRCm39)	missense	probably benign
R9112:Bcat2	UTSW	7	45,237,446 (GRCm39)	critical splice donor site	probably null
R9320:Bcat2	UTSW	7	45,234,542 (GRCm39)	missense	probably damaging	0.97
R9365:Bcat2	UTSW	7	45,225,294 (GRCm39)	missense	probably damaging	0.99
R9449:Bcat2	UTSW	7	45,234,980 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCAGACCTCCAGATTCAGATGACC -3'
(R):5'- AGAACCCCACTCTCTTTCAGAGCAG -3'

Sequencing Primer
(F):5'- TCCAGATTCAGATGACCAAAGAAC -3'
(R):5'- ACTCTCTTTCAGAGCAGAGTCC -3'

Posted On

2014-01-29