Incidental Mutation 'R4402:Gpt2'
ID 326679
Institutional Source Beutler Lab
Gene Symbol Gpt2
Ensembl Gene ENSMUSG00000031700
Gene Name glutamic pyruvate transaminase (alanine aminotransferase) 2
Synonyms 4631422C05Rik, ALT2
MMRRC Submission 042003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4402 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 86219205-86254189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86252188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 501 (D501V)
Ref Sequence ENSEMBL: ENSMUSP00000034136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034136] [ENSMUST00000132932]
AlphaFold Q8BGT5
Predicted Effect probably benign
Transcript: ENSMUST00000034136
AA Change: D501V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: D501V

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
Pfam:Aminotran_1_2 110 510 6.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132932
SMART Domains Protein: ENSMUSP00000115968
Gene: ENSMUSG00000031700

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
PDB:3IHJ|A 48 148 6e-63 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143846
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity, reduced postnatal brain growth, various metabolic defects in pathways involving amino acid metabolism, the TCA cycle and neuroprotective mechanisms, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,020 (GRCm39) H167Q probably benign Het
Adamts20 T C 15: 94,277,827 (GRCm39) T212A probably benign Het
Ap3b1 C A 13: 94,554,607 (GRCm39) L248I probably damaging Het
Atl1 T G 12: 70,005,973 (GRCm39) D426E probably benign Het
Cage1 T A 13: 38,207,078 (GRCm39) I256F probably damaging Het
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Canx T C 11: 50,195,265 (GRCm39) T268A probably benign Het
Chd7 A T 4: 8,866,353 (GRCm39) M842L possibly damaging Het
Clca4a T C 3: 144,658,609 (GRCm39) T787A probably benign Het
Clstn3 T C 6: 124,433,939 (GRCm39) Y407C probably damaging Het
Copa C A 1: 171,929,791 (GRCm39) T286N probably damaging Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Def6 A G 17: 28,438,950 (GRCm39) K219E probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Eif5 A T 12: 111,508,183 (GRCm39) K161N probably benign Het
Fras1 C A 5: 96,790,479 (GRCm39) T951K probably damaging Het
Gen1 A T 12: 11,292,363 (GRCm39) N475K possibly damaging Het
Gm14569 T C X: 35,697,146 (GRCm39) Y521C probably benign Het
Gm6124 T A 7: 38,870,529 (GRCm39) noncoding transcript Het
Gstm2 T C 3: 107,893,370 (GRCm39) K31R probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Itga1 T A 13: 115,138,102 (GRCm39) M428L probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnn4 T C 7: 24,076,867 (GRCm39) W139R probably benign Het
Kdm7a T A 6: 39,143,602 (GRCm39) R380W probably null Het
Khdrbs1 T G 4: 129,635,889 (GRCm39) D22A possibly damaging Het
Liph A T 16: 21,795,000 (GRCm39) I204N probably damaging Het
Loxhd1 A G 18: 77,529,456 (GRCm39) E2033G possibly damaging Het
M6pr C T 6: 122,291,982 (GRCm39) probably benign Het
Mrm1 A G 11: 84,709,915 (GRCm39) I95T probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mug1 C A 6: 121,856,311 (GRCm39) F1030L probably damaging Het
Naca C T 10: 127,879,341 (GRCm39) probably benign Het
Nob1 A T 8: 108,145,120 (GRCm39) probably benign Het
Nutm1 A C 2: 112,080,154 (GRCm39) I587R probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Pcdhb2 A G 18: 37,428,455 (GRCm39) K143E probably benign Het
Pcnt T C 10: 76,228,227 (GRCm39) Q1646R probably benign Het
Piwil2 A T 14: 70,646,365 (GRCm39) D390E probably benign Het
Pkhd1 A G 1: 20,309,635 (GRCm39) L2771P probably damaging Het
Pla2g1b T A 5: 115,608,947 (GRCm39) Y47* probably null Het
Plekhn1 T C 4: 156,309,813 (GRCm39) T135A probably damaging Het
Pola1 T C X: 92,605,029 (GRCm39) Y968C probably damaging Het
Ppp1r26 C A 2: 28,341,618 (GRCm39) T416K probably benign Het
Psmd1 A G 1: 86,003,673 (GRCm39) I153V possibly damaging Het
Rcan2 A G 17: 44,264,361 (GRCm39) D7G probably benign Het
Rexo5 T C 7: 119,433,599 (GRCm39) I326T possibly damaging Het
Rps6kc1 A G 1: 190,530,802 (GRCm39) probably benign Het
Shc1 T C 3: 89,333,985 (GRCm39) S273P probably benign Het
Slc9b2 T C 3: 135,042,305 (GRCm39) V528A probably benign Het
Tas2r118 T C 6: 23,969,293 (GRCm39) K256R probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tnfaip2 T C 12: 111,416,285 (GRCm39) F516L probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Wdr35 A G 12: 9,039,981 (GRCm39) D362G probably damaging Het
Wwp2 T C 8: 108,184,610 (GRCm39) V106A probably benign Het
Zfp40 T A 17: 23,395,693 (GRCm39) H230L possibly damaging Het
Zkscan17 T A 11: 59,393,848 (GRCm39) M1L possibly damaging Het
Other mutations in Gpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Gpt2 APN 8 86,238,953 (GRCm39) missense probably benign
IGL01611:Gpt2 APN 8 86,246,167 (GRCm39) nonsense probably null
IGL02385:Gpt2 APN 8 86,242,782 (GRCm39) splice site probably null
IGL02484:Gpt2 APN 8 86,242,862 (GRCm39) missense probably damaging 1.00
IGL02589:Gpt2 APN 8 86,242,795 (GRCm39) nonsense probably null
IGL02669:Gpt2 APN 8 86,249,908 (GRCm39) missense probably benign 0.02
R1191:Gpt2 UTSW 8 86,235,901 (GRCm39) missense probably damaging 1.00
R1599:Gpt2 UTSW 8 86,238,863 (GRCm39) missense probably damaging 1.00
R1944:Gpt2 UTSW 8 86,244,625 (GRCm39) missense probably damaging 1.00
R1953:Gpt2 UTSW 8 86,248,013 (GRCm39) missense probably benign 0.00
R1962:Gpt2 UTSW 8 86,219,764 (GRCm39) missense probably damaging 0.99
R1982:Gpt2 UTSW 8 86,242,832 (GRCm39) missense possibly damaging 0.75
R2283:Gpt2 UTSW 8 86,242,818 (GRCm39) missense probably benign
R3785:Gpt2 UTSW 8 86,252,202 (GRCm39) missense probably benign
R3786:Gpt2 UTSW 8 86,252,202 (GRCm39) missense probably benign
R3787:Gpt2 UTSW 8 86,252,202 (GRCm39) missense probably benign
R4974:Gpt2 UTSW 8 86,246,068 (GRCm39) splice site probably benign
R5457:Gpt2 UTSW 8 86,238,967 (GRCm39) missense possibly damaging 0.90
R5589:Gpt2 UTSW 8 86,219,740 (GRCm39) missense probably damaging 1.00
R5734:Gpt2 UTSW 8 86,249,885 (GRCm39) missense probably benign 0.17
R5924:Gpt2 UTSW 8 86,219,633 (GRCm39) missense probably damaging 1.00
R6371:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6651:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6652:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6895:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6898:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6923:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6955:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6956:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7112:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7113:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7115:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7124:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7125:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7327:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7486:Gpt2 UTSW 8 86,252,235 (GRCm39) missense probably damaging 0.98
R7582:Gpt2 UTSW 8 86,246,145 (GRCm39) missense probably damaging 1.00
R7986:Gpt2 UTSW 8 86,235,839 (GRCm39) nonsense probably null
R8274:Gpt2 UTSW 8 86,242,853 (GRCm39) missense probably benign 0.38
R8376:Gpt2 UTSW 8 86,219,694 (GRCm39) missense probably benign 0.00
X0058:Gpt2 UTSW 8 86,244,648 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- ACATTTTGGTGACTCAGAATCTGG -3'
(R):5'- CCACTGTTTGCTCGAAGAAC -3'

Sequencing Primer
(F):5'- GACTCAGAATCTGGTTTATTGCTTTC -3'
(R):5'- CTGTTTGCTCGAAGAACTCTCAAAC -3'
Posted On 2015-07-07