Incidental Mutation 'IGL00092:Gpt2'
ID |
1379 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpt2
|
Ensembl Gene |
ENSMUSG00000031700 |
Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
Synonyms |
4631422C05Rik, ALT2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
IGL00092
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
86219205-86254189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86238953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 262
(V262A)
|
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: V262A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034136 Gene: ENSMUSG00000031700 AA Change: V262A
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
PDB:3IHJ|A
|
48 |
148 |
6e-63 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140189
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,892,430 (GRCm39) |
D443G |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,693,119 (GRCm39) |
I28T |
possibly damaging |
Het |
Bpi |
T |
A |
2: 158,116,716 (GRCm39) |
V371E |
probably damaging |
Het |
Cd109 |
T |
G |
9: 78,524,251 (GRCm39) |
V55G |
probably damaging |
Het |
Cd300c2 |
T |
C |
11: 114,892,375 (GRCm39) |
|
probably benign |
Het |
Cic |
C |
T |
7: 24,991,549 (GRCm39) |
R1280C |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,968,812 (GRCm39) |
|
probably benign |
Het |
Cntn4 |
G |
T |
6: 106,483,186 (GRCm39) |
C247F |
probably damaging |
Het |
Disp3 |
C |
T |
4: 148,325,991 (GRCm39) |
V1256I |
probably benign |
Het |
Farsb |
A |
T |
1: 78,439,630 (GRCm39) |
S338T |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,966,813 (GRCm39) |
N240S |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,127,162 (GRCm39) |
S5G |
possibly damaging |
Het |
Git1 |
T |
C |
11: 77,396,783 (GRCm39) |
L635P |
probably benign |
Het |
Gm21985 |
T |
G |
2: 112,181,679 (GRCm39) |
W685G |
probably damaging |
Het |
Hecw2 |
A |
G |
1: 53,869,896 (GRCm39) |
V1444A |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,391,248 (GRCm39) |
V4017A |
probably benign |
Het |
Klhl17 |
T |
C |
4: 156,318,147 (GRCm39) |
T129A |
possibly damaging |
Het |
Krt84 |
T |
G |
15: 101,437,170 (GRCm39) |
D331A |
probably damaging |
Het |
Lrrc9 |
C |
T |
12: 72,533,017 (GRCm39) |
T963M |
possibly damaging |
Het |
Mtcl1 |
C |
T |
17: 66,651,314 (GRCm39) |
V935I |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Myocd |
T |
C |
11: 65,071,770 (GRCm39) |
|
probably null |
Het |
Nid1 |
A |
G |
13: 13,650,977 (GRCm39) |
N505D |
probably damaging |
Het |
Ninj1 |
A |
T |
13: 49,347,210 (GRCm39) |
|
probably null |
Het |
Or14a260 |
C |
T |
7: 85,985,269 (GRCm39) |
V112I |
probably benign |
Het |
Or1x6 |
C |
A |
11: 50,939,227 (GRCm39) |
Q98K |
probably benign |
Het |
Or4d10c |
A |
T |
19: 12,065,357 (GRCm39) |
D266E |
probably benign |
Het |
Plscr2 |
T |
A |
9: 92,172,685 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,655,353 (GRCm39) |
T307A |
probably benign |
Het |
Sart3 |
T |
C |
5: 113,884,730 (GRCm39) |
R625G |
probably benign |
Het |
Sohlh2 |
T |
A |
3: 55,115,236 (GRCm39) |
L407H |
probably damaging |
Het |
Sorcs1 |
A |
G |
19: 50,178,492 (GRCm39) |
S877P |
probably damaging |
Het |
Stat1 |
T |
C |
1: 52,161,754 (GRCm39) |
M1T |
probably null |
Het |
Szt2 |
C |
T |
4: 118,241,447 (GRCm39) |
|
probably benign |
Het |
Tars3 |
G |
T |
7: 65,302,007 (GRCm39) |
|
probably null |
Het |
Terb2 |
T |
A |
2: 122,028,867 (GRCm39) |
S141R |
probably benign |
Het |
Tgfbrap1 |
T |
C |
1: 43,099,283 (GRCm39) |
Y177C |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,897,875 (GRCm39) |
I169N |
possibly damaging |
Het |
Trim47 |
A |
G |
11: 115,997,020 (GRCm39) |
L578P |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,953,758 (GRCm39) |
S641P |
probably benign |
Het |
Vwa5a |
T |
A |
9: 38,649,110 (GRCm39) |
|
probably null |
Het |
Zzef1 |
T |
A |
11: 72,765,952 (GRCm39) |
I1493N |
probably benign |
Het |
|
Other mutations in Gpt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R4402:Gpt2
|
UTSW |
8 |
86,252,188 (GRCm39) |
missense |
probably benign |
0.32 |
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 |
|
Posted On |
2011-07-12 |