Incidental Mutation 'R9449:Bcat2'
ID 714131
Institutional Source Beutler Lab
Gene Symbol Bcat2
Ensembl Gene ENSMUSG00000030826
Gene Name branched chain aminotransferase 2, mitochondrial
Synonyms Eca40, Bcat-2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R9449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45219773-45239134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45234980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 226 (V226A)
Ref Sequence ENSEMBL: ENSMUSP00000033098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000120864] [ENSMUST00000209204] [ENSMUST00000210811] [ENSMUST00000211173]
AlphaFold O35855
Predicted Effect possibly damaging
Transcript: ENSMUST00000033098
AA Change: V226A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: V226A

DomainStartEndE-ValueType
Pfam:Aminotran_4 101 351 5.4e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120864
AA Change: V221A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: V221A

DomainStartEndE-ValueType
Pfam:Aminotran_4 119 370 7.6e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209204
AA Change: V186A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000210811
Predicted Effect possibly damaging
Transcript: ENSMUST00000211173
AA Change: V186A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aarsd1 A C 11: 101,301,597 (GRCm39) S262A probably benign Het
Abhd17c A G 7: 83,763,637 (GRCm39) Y189H probably damaging Het
Adam33 T C 2: 130,895,606 (GRCm39) R570G possibly damaging Het
Alpk2 G A 18: 65,424,464 (GRCm39) R1441W probably damaging Het
Arhgap21 A G 2: 20,885,464 (GRCm39) V581A probably benign Het
Cdh10 A G 15: 19,013,521 (GRCm39) N707S possibly damaging Het
Chd9 T C 8: 91,659,174 (GRCm39) F45L unknown Het
Clec1a T C 6: 129,428,606 (GRCm39) T25A probably benign Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Cthrc1 A G 15: 38,947,868 (GRCm39) T196A probably benign Het
Ctsm A T 13: 61,686,299 (GRCm39) V228D probably damaging Het
Dennd3 A T 15: 73,429,477 (GRCm39) D920V probably damaging Het
Dnah17 A G 11: 117,987,452 (GRCm39) I1286T probably benign Het
Dnah3 T A 7: 119,551,473 (GRCm39) T2949S probably benign Het
Dram1 C T 10: 88,192,703 (GRCm39) V28M probably benign Het
Eml5 A G 12: 98,827,554 (GRCm39) Y559H probably damaging Het
Ermard C T 17: 15,273,554 (GRCm39) R380C possibly damaging Het
Fam181a A G 12: 103,282,107 (GRCm39) D4G probably damaging Het
Gabrd C A 4: 155,472,803 (GRCm39) V127L probably damaging Het
Galnt12 T A 4: 47,104,163 (GRCm39) Y140* probably null Het
Gpr161 A T 1: 165,146,389 (GRCm39) K442* probably null Het
Haus6 A T 4: 86,513,665 (GRCm39) N332K probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Itsn1 T A 16: 91,625,264 (GRCm39) *622R probably null Het
Kcna2 T A 3: 107,012,887 (GRCm39) Y489* probably null Het
Limk1 A G 5: 134,701,864 (GRCm39) probably null Het
Manba A T 3: 135,255,079 (GRCm39) D479V probably benign Het
Myh6 A T 14: 55,189,779 (GRCm39) I1089N possibly damaging Het
Npas4 T A 19: 5,038,492 (GRCm39) D142V probably damaging Het
Nr4a1 T C 15: 101,168,053 (GRCm39) F30L probably benign Het
Numbl C T 7: 26,976,327 (GRCm39) R336C Het
Or10x4 G A 1: 174,218,742 (GRCm39) A36T probably benign Het
Or5p4 T C 7: 107,680,040 (GRCm39) I13T Het
Parp9 T C 16: 35,777,234 (GRCm39) S393P probably damaging Het
Pcdha11 A G 18: 37,145,484 (GRCm39) E525G probably damaging Het
Pdia2 T C 17: 26,416,174 (GRCm39) T298A probably benign Het
Per3 G A 4: 151,094,945 (GRCm39) T946I probably benign Het
Pla2r1 A T 2: 60,258,902 (GRCm39) V1162D probably damaging Het
Plxnd1 T A 6: 115,932,730 (GRCm39) N1917Y probably damaging Het
Pole3 A T 4: 62,442,277 (GRCm39) D114E unknown Het
Ppil3 T C 1: 58,470,397 (GRCm39) D151G probably benign Het
Psd3 A T 8: 68,165,833 (GRCm39) M365K unknown Het
Psme2b T G 11: 48,836,566 (GRCm39) H127P probably damaging Het
Ric8a C G 7: 140,437,393 (GRCm39) R4G probably benign Het
Rock2 A T 12: 17,027,763 (GRCm39) D1360V probably damaging Het
Simc1 A G 13: 54,674,192 (GRCm39) T847A probably benign Het
Slc12a1 T A 2: 125,028,144 (GRCm39) V480E probably damaging Het
Slc32a1 T C 2: 158,456,241 (GRCm39) F299L probably benign Het
Slc44a2 A G 9: 21,258,333 (GRCm39) Y500C Het
Ssbp2 A G 13: 91,823,157 (GRCm39) D192G probably benign Het
Stat5b T C 11: 100,681,674 (GRCm39) K527E probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Usp50 A G 2: 126,619,817 (GRCm39) probably null Het
Vegfc A T 8: 54,610,053 (GRCm39) M70L probably benign Het
Vmn1r40 A G 6: 89,691,854 (GRCm39) T224A probably benign Het
Vmn2r116 A G 17: 23,605,919 (GRCm39) D277G probably benign Het
Vti1a T A 19: 55,612,278 (GRCm39) I197N possibly damaging Het
Zfyve9 C A 4: 108,576,435 (GRCm39) L215F probably damaging Het
Znrf3 A T 11: 5,288,710 (GRCm39) Y19* probably null Het
Other mutations in Bcat2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1251:Bcat2 UTSW 7 45,225,410 (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
Predicted Primers PCR Primer
(F):5'- GGCCTAGAGCTCTGGGTATAAG -3'
(R):5'- TGTCAGGCACCAGGGATGAC -3'

Sequencing Primer
(F):5'- AGCTGAAGTGAGGACCCCTTG -3'
(R):5'- CACCAGGGATGACAAAGGACAC -3'
Posted On 2022-06-15