Incidental Mutation 'R7115:Gpt2'
ID |
551727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpt2
|
Ensembl Gene |
ENSMUSG00000031700 |
Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
Synonyms |
4631422C05Rik, ALT2 |
MMRRC Submission |
045206-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R7115 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
probably null |
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 |
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 |
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 |
2019-05-15 |