Incidental Mutation 'R7113:Gpt2'
| ID |
551628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpt2
|
| Ensembl Gene |
ENSMUSG00000031700 |
| Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
| Synonyms |
4631422C05Rik, ALT2 |
| MMRRC Submission |
045205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R7113 (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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (53/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,449,267 (GRCm39) |
S226P |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,781,881 (GRCm39) |
Y586H |
probably damaging |
Het |
| Ano7 |
A |
T |
1: 93,313,342 (GRCm39) |
E160V |
probably benign |
Het |
| Apob |
G |
C |
12: 8,045,539 (GRCm39) |
A895P |
probably damaging |
Het |
| Ccdc157 |
T |
C |
11: 4,098,889 (GRCm39) |
T206A |
possibly damaging |
Het |
| Ceacam18 |
A |
G |
7: 43,291,400 (GRCm39) |
N281D |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,083 (GRCm39) |
D337G |
probably damaging |
Het |
| Chil4 |
T |
G |
3: 106,121,664 (GRCm39) |
K62Q |
probably benign |
Het |
| Cic |
A |
T |
7: 24,972,869 (GRCm39) |
I867F |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,968,064 (GRCm39) |
E761G |
probably damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,674,403 (GRCm39) |
Y493F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,075,788 (GRCm39) |
F3026L |
probably benign |
Het |
| Ehd3 |
T |
A |
17: 74,137,179 (GRCm39) |
D449E |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,853,597 (GRCm39) |
D3696E |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,566 (GRCm39) |
I1294N |
probably damaging |
Het |
| Il19 |
T |
C |
1: 130,862,732 (GRCm39) |
I139V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 66,993,780 (GRCm39) |
I87N |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,301,448 (GRCm39) |
L433P |
probably damaging |
Het |
| Kif9 |
A |
T |
9: 110,335,732 (GRCm39) |
N378Y |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,697,664 (GRCm39) |
V440E |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,509,625 (GRCm39) |
I781T |
unknown |
Het |
| Manea |
A |
T |
4: 26,336,718 (GRCm39) |
L186Q |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,061,324 (GRCm39) |
I33T |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,864,330 (GRCm39) |
S389G |
probably benign |
Het |
| Nxph3 |
T |
C |
11: 95,401,892 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,568 (GRCm39) |
F105Y |
possibly damaging |
Het |
| Or8g52 |
G |
C |
9: 39,630,973 (GRCm39) |
C150S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,094,757 (GRCm39) |
D422G |
probably benign |
Het |
| Pias4 |
A |
C |
10: 80,990,287 (GRCm39) |
V416G |
possibly damaging |
Het |
| Pik3cg |
T |
A |
12: 32,255,666 (GRCm39) |
Y107F |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,590,203 (GRCm39) |
W156R |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,492 (GRCm39) |
D167G |
probably damaging |
Het |
| Podxl |
T |
A |
6: 31,501,668 (GRCm39) |
|
probably null |
Het |
| Ppp1r2 |
T |
C |
16: 31,073,536 (GRCm39) |
D197G |
probably benign |
Het |
| Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,025 (GRCm39) |
S368T |
probably benign |
Het |
| Rdh8 |
G |
T |
9: 20,736,623 (GRCm39) |
R230L |
probably benign |
Het |
| Rpl35 |
A |
C |
2: 38,894,168 (GRCm39) |
L58R |
probably damaging |
Het |
| Rtp3 |
A |
C |
9: 110,815,767 (GRCm39) |
C199W |
probably damaging |
Het |
| S100pbp |
G |
A |
4: 129,075,896 (GRCm39) |
T143I |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,904 (GRCm39) |
E782G |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,484,205 (GRCm39) |
V114A |
probably benign |
Het |
| Speer1c |
G |
A |
5: 10,292,977 (GRCm39) |
P189S |
|
Het |
| Stpg2 |
G |
A |
3: 139,407,535 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,113 (GRCm39) |
S224G |
possibly damaging |
Het |
| Triml2 |
T |
A |
8: 43,636,370 (GRCm39) |
Y52N |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,783,765 (GRCm39) |
I236N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,507,054 (GRCm39) |
D602G |
probably benign |
Het |
| Upk1a |
A |
G |
7: 30,309,236 (GRCm39) |
S29P |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,350,001 (GRCm39) |
L527P |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,399,011 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
G |
T |
2: 157,756,649 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,632,007 (GRCm39) |
G1952V |
|
Het |
| Zfand6 |
A |
C |
7: 84,265,077 (GRCm39) |
I208S |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,638,462 (GRCm39) |
I1386T |
possibly 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 |
|
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 |
|
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'- TCAAAGCTGGATTTTGTGGCC -3'
(R):5'- GCAAGTGATGAAGGCTGCTTTC -3'
Sequencing Primer
(F):5'- TGTGGCCTTCACCTGACAACAG -3'
(R):5'- GAAGGCTGCTTTCTAACCATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation