Incidental Mutation 'R6652:Gpt2'
ID |
528093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpt2
|
Ensembl Gene |
ENSMUSG00000031700 |
Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
Synonyms |
4631422C05Rik, ALT2 |
MMRRC Submission |
044773-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R6652 (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 |
100% (42/42) |
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 |
Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,091,079 (GRCm39) |
Y211C |
probably damaging |
Het |
Espnl |
A |
C |
1: 91,272,421 (GRCm39) |
I594L |
probably benign |
Het |
Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
Grap2 |
A |
T |
15: 80,532,723 (GRCm39) |
N297Y |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
Mc1r |
G |
A |
8: 124,134,370 (GRCm39) |
G41D |
probably damaging |
Het |
Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
Mthfsd |
A |
T |
8: 121,825,560 (GRCm39) |
L337Q |
probably damaging |
Het |
Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Spart |
G |
A |
3: 55,032,248 (GRCm39) |
E361K |
probably benign |
Het |
Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
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 |
R6651: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'- CAAAGCTGGATTTTGTGGCC -3'
(R):5'- CAAGTGATGAAGGCTGCTTTC -3'
Sequencing Primer
(F):5'- TGTGGCCTTCACCTGACAACAG -3'
(R):5'- GAAGGCTGCTTTCTAACCATG -3'
|
Posted On |
2018-07-24 |