Incidental Mutation 'R8474:Bcat2'
ID 657164
Institutional Source Beutler Lab
Gene Symbol Bcat2
Ensembl Gene ENSMUSG00000030826
Gene Name branched chain aminotransferase 2, mitochondrial
Synonyms Eca40, Bcat-2
MMRRC Submission 067918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R8474 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45219773-45239134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45237075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 194 (N194S)
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: N234S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: N234S

DomainStartEndE-ValueType
Pfam:Aminotran_4 101 351 5.4e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120864
AA Change: N229S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: N229S

DomainStartEndE-ValueType
Pfam:Aminotran_4 119 370 7.6e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209204
AA Change: N194S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000210811
Predicted Effect probably damaging
Transcript: ENSMUST00000211173
AA Change: N194S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,576,638 (GRCm39) S975T probably damaging Het
Adgrg1 C G 8: 95,729,936 (GRCm39) T46S probably damaging Het
Akip1 T A 7: 109,306,697 (GRCm39) D131E probably benign Het
Arhgef39 A G 4: 43,498,015 (GRCm39) V163A probably benign Het
Atg2a T C 19: 6,301,433 (GRCm39) probably null Het
Bcam A T 7: 19,494,325 (GRCm39) L357* probably null Het
Bcl2l14 T C 6: 134,400,720 (GRCm39) L47P probably benign Het
Cbln1 C T 8: 88,198,673 (GRCm39) A66T possibly damaging Het
Ccdc191 G T 16: 43,710,262 (GRCm39) probably benign Het
Cd70 C T 17: 57,456,468 (GRCm39) S45N possibly damaging Het
Cfap43 G A 19: 47,886,363 (GRCm39) A84V probably benign Het
Clca3a1 T A 3: 144,710,792 (GRCm39) N804Y possibly damaging Het
Cmah A T 13: 24,601,350 (GRCm39) N52I probably damaging Het
Crot A G 5: 9,043,518 (GRCm39) Y35H probably damaging Het
Cyp3a59 C A 5: 146,041,487 (GRCm39) P344T probably benign Het
Dnah5 A G 15: 28,247,978 (GRCm39) E705G probably benign Het
Dnm2 A G 9: 21,377,016 (GRCm39) Y125C probably damaging Het
Dst A G 1: 34,208,266 (GRCm39) Y739C probably damaging Het
Eif3a A T 19: 60,767,929 (GRCm39) M203K possibly damaging Het
Enpep C T 3: 129,113,076 (GRCm39) V283M probably damaging Het
Ephx3 A G 17: 32,407,219 (GRCm39) S240P probably damaging Het
Evi5l T C 8: 4,260,784 (GRCm39) H1011R possibly damaging Het
Fig4 A T 10: 41,108,170 (GRCm39) F677I probably benign Het
Gramd1b A G 9: 40,287,207 (GRCm39) probably null Het
Gse1 C T 8: 121,295,123 (GRCm39) probably benign Het
Hoxa9 A G 6: 52,202,506 (GRCm39) probably null Het
Ice1 A T 13: 70,752,566 (GRCm39) S1173R probably benign Het
Ifi207 G A 1: 173,556,605 (GRCm39) T718I possibly damaging Het
Ifit1bl1 A G 19: 34,572,262 (GRCm39) L65P probably damaging Het
Impact T C 18: 13,107,798 (GRCm39) I22T probably damaging Het
Lrp1 A G 10: 127,375,572 (GRCm39) C4409R probably damaging Het
Mark1 A G 1: 184,651,783 (GRCm39) W131R probably damaging Het
Mindy3 T C 2: 12,404,839 (GRCm39) T190A probably damaging Het
Mybbp1a A G 11: 72,338,563 (GRCm39) D721G probably benign Het
Myo1d A G 11: 80,561,745 (GRCm39) V466A possibly damaging Het
Myo5b A C 18: 74,903,411 (GRCm39) D1809A probably damaging Het
Nudcd2 C T 11: 40,624,850 (GRCm39) Q20* probably null Het
Or4f62 T C 2: 111,986,320 (GRCm39) M8T probably benign Het
Or5b101 A G 19: 13,005,357 (GRCm39) L112P probably damaging Het
Or8g2b T A 9: 39,751,048 (GRCm39) L106H possibly damaging Het
Pcif1 A T 2: 164,730,272 (GRCm39) D335V probably damaging Het
Pebp4 T A 14: 70,085,136 (GRCm39) C65S possibly damaging Het
Ptger1 C T 8: 84,395,267 (GRCm39) A248V probably benign Het
Qki A T 17: 10,537,747 (GRCm39) M19K probably benign Het
Ralgapa2 C G 2: 146,266,750 (GRCm39) A609P probably damaging Het
Robo2 C T 16: 73,745,150 (GRCm39) G875D probably damaging Het
Runx2 A G 17: 44,919,147 (GRCm39) V375A probably damaging Het
Sis A T 3: 72,836,730 (GRCm39) F841I probably damaging Het
Slc5a8 A G 10: 88,757,552 (GRCm39) D514G possibly damaging Het
Spag17 A T 3: 99,934,586 (GRCm39) T623S probably benign Het
Sppl2c A G 11: 104,078,963 (GRCm39) S588G probably benign Het
Stxbp6 A C 12: 44,949,704 (GRCm39) V75G possibly damaging Het
Tmc3 G A 7: 83,259,122 (GRCm39) R531Q probably damaging Het
Tmem258 T C 19: 10,184,550 (GRCm39) Y41H probably damaging Het
Tsks A T 7: 44,600,263 (GRCm39) T91S probably damaging Het
Vmn2r23 T C 6: 123,681,599 (GRCm39) V169A probably benign Het
Wdr54 T C 6: 83,129,985 (GRCm39) N282S probably benign Het
Yme1l1 T A 2: 23,052,584 (GRCm39) N79K probably benign 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
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'- GACCTTAGTCGCTGGAGAAAGG -3'
(R):5'- GGGCATCATACAGGGTATGG -3'

Sequencing Primer
(F):5'- CTTAGTCGCTGGAGAAAGGATGAAC -3'
(R):5'- CATCATACAGGGTATGGGTTGGGAC -3'
Posted On 2021-01-18