Incidental Mutation 'R6651:Gpt2'
| ID |
527791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpt2
|
| Ensembl Gene |
ENSMUSG00000031700 |
| Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
| Synonyms |
4631422C05Rik, ALT2 |
| MMRRC Submission |
044772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6651 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86219205-86254189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86244681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 325
(E325K)
|
| 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: E325K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: E325K
| 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
|
| Meta Mutation Damage Score |
0.0666 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
| Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
| Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
| Ccdc163 |
T |
A |
4: 116,566,261 (GRCm39) |
S16R |
possibly damaging |
Het |
| Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
| Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
| Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
| Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ggta1 |
G |
T |
2: 35,292,306 (GRCm39) |
H334N |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
| Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
| Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
| Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
| Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
| Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,355,345 (GRCm39) |
P294Q |
possibly damaging |
Het |
| Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
| Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
| Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
| Rffl |
C |
A |
11: 82,703,605 (GRCm39) |
C106F |
probably damaging |
Het |
| Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
A |
G |
9: 15,634,874 (GRCm39) |
S139G |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,977,372 (GRCm39) |
T70A |
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
| Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
probably damaging |
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 |
|
|
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 |
|
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'- TGGCCTTCACCTGACAACAG -3'
(R):5'- TTCTTACACCAGCGGCAAGTG -3'
Sequencing Primer
(F):5'- ACAGGTTAACTCCGTACCTATG -3'
(R):5'- CAAGTGATGAAGGCTGCTTTCTAACC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation