Incidental Mutation 'IGL02484:Gpt2'
| ID |
295348 |
| 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 # |
IGL02484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86219205-86254189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86242862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034136]
[ENSMUST00000132932]
|
| AlphaFold |
Q8BGT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034136
AA Change: D298G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: D298G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143846
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
C |
7: 29,262,777 (GRCm39) |
|
noncoding transcript |
Het |
| Araf |
A |
G |
X: 20,720,148 (GRCm39) |
|
probably benign |
Het |
| Arrb2 |
T |
A |
11: 70,330,300 (GRCm39) |
V308E |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,910,516 (GRCm39) |
|
probably benign |
Het |
| Cactin |
T |
A |
10: 81,158,808 (GRCm39) |
I258N |
probably benign |
Het |
| Calhm6 |
T |
C |
10: 34,002,400 (GRCm39) |
T228A |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,345 (GRCm39) |
|
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,955,915 (GRCm39) |
D146N |
probably benign |
Het |
| Chrna3 |
T |
C |
9: 54,922,821 (GRCm39) |
Y329C |
probably damaging |
Het |
| Ctps2 |
G |
A |
X: 161,693,005 (GRCm39) |
G56D |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,504,754 (GRCm39) |
D44G |
probably benign |
Het |
| D3Ertd751e |
A |
G |
3: 41,708,155 (GRCm39) |
|
probably null |
Het |
| Daxx |
T |
C |
17: 34,131,216 (GRCm39) |
V381A |
probably damaging |
Het |
| Dhx37 |
T |
A |
5: 125,496,401 (GRCm39) |
I714F |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,478 (GRCm39) |
V1470A |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,332,247 (GRCm39) |
I297T |
probably damaging |
Het |
| Fnd3c2 |
A |
T |
X: 105,289,092 (GRCm39) |
H442Q |
probably damaging |
Het |
| Glp2r |
A |
C |
11: 67,630,992 (GRCm39) |
V126G |
possibly damaging |
Het |
| Gm5699 |
G |
T |
1: 31,037,843 (GRCm39) |
|
noncoding transcript |
Het |
| Gse1 |
G |
T |
8: 121,302,001 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,420 (GRCm39) |
T65A |
probably benign |
Het |
| Ints8 |
G |
A |
4: 11,208,834 (GRCm39) |
Q955* |
probably null |
Het |
| Lrguk |
C |
T |
6: 34,069,726 (GRCm39) |
P534S |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,518,886 (GRCm39) |
F60L |
probably benign |
Het |
| Mamld1 |
T |
C |
X: 70,162,258 (GRCm39) |
I423T |
possibly damaging |
Het |
| Mrpl22 |
G |
A |
11: 58,063,888 (GRCm39) |
S36N |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,049,712 (GRCm39) |
E915G |
probably damaging |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,223 (GRCm39) |
F218S |
possibly damaging |
Het |
| Or5p68 |
C |
T |
7: 107,945,813 (GRCm39) |
R125Q |
probably damaging |
Het |
| Pde4c |
T |
A |
8: 71,200,701 (GRCm39) |
|
probably benign |
Het |
| Pdxdc1 |
T |
C |
16: 13,693,945 (GRCm39) |
E159G |
possibly damaging |
Het |
| Poln |
T |
C |
5: 34,286,721 (GRCm39) |
E149G |
probably damaging |
Het |
| Pou5f2 |
T |
G |
13: 78,174,024 (GRCm39) |
L322R |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,997 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ptges2 |
T |
A |
2: 32,287,719 (GRCm39) |
I149N |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
| Raet1e |
A |
T |
10: 22,056,666 (GRCm39) |
M81L |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,098,956 (GRCm39) |
S438P |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,750 (GRCm39) |
K126* |
probably null |
Het |
| Stfa2 |
T |
C |
16: 36,225,569 (GRCm39) |
T37A |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,465,897 (GRCm39) |
I433T |
possibly damaging |
Het |
| Vmn2r32 |
C |
T |
7: 7,467,116 (GRCm39) |
G804D |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,740,560 (GRCm39) |
T84A |
probably benign |
Het |
|
| Other mutations in Gpt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation