Incidental Mutation 'R7112:Gpt2'
| ID |
551571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpt2
|
| Ensembl Gene |
ENSMUSG00000031700 |
| Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
| Synonyms |
4631422C05Rik, ALT2 |
| MMRRC Submission |
045204-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R7112 (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: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
T |
12: 112,747,747 (GRCm39) |
A1036E |
|
Het |
| Baz2b |
A |
T |
2: 59,792,528 (GRCm39) |
H533Q |
possibly damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,235 (GRCm39) |
W193R |
probably damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,646,338 (GRCm39) |
G24D |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,580,773 (GRCm39) |
V691A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,922,984 (GRCm39) |
D304G |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,594 (GRCm39) |
Q525H |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,142 (GRCm39) |
C1391F |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,962,624 (GRCm39) |
G85V |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,090,366 (GRCm39) |
V4623I |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,192 (GRCm39) |
L3918Q |
probably damaging |
Het |
| Exoc4 |
A |
T |
6: 33,898,423 (GRCm39) |
N881Y |
probably damaging |
Het |
| Flt1 |
G |
C |
5: 147,540,379 (GRCm39) |
A770G |
probably damaging |
Het |
| Fndc5 |
A |
G |
4: 129,035,915 (GRCm39) |
N184S |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,424,845 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
| Gba2 |
A |
G |
4: 43,568,453 (GRCm39) |
V671A |
probably benign |
Het |
| Jph2 |
G |
A |
2: 163,217,704 (GRCm39) |
T324M |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,649,758 (GRCm39) |
V937A |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,609,154 (GRCm39) |
E24D |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,018 (GRCm39) |
L464Q |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,476,210 (GRCm39) |
V1159E |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,929,987 (GRCm39) |
N1498D |
unknown |
Het |
| Mplkipl1 |
T |
G |
19: 61,163,997 (GRCm39) |
D146A |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,655 (GRCm39) |
V27I |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,233,312 (GRCm39) |
N294D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,235,542 (GRCm39) |
L498H |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,050 (GRCm39) |
T227A |
possibly damaging |
Het |
| Nin |
C |
T |
12: 70,149,573 (GRCm39) |
R12Q |
|
Het |
| Obscn |
G |
C |
11: 58,920,151 (GRCm39) |
A27G |
|
Het |
| Or11h7 |
T |
A |
14: 50,891,583 (GRCm39) |
D296E |
probably benign |
Het |
| Or4k5 |
T |
G |
14: 50,385,392 (GRCm39) |
E313A |
probably benign |
Het |
| Or52r1b |
G |
A |
7: 102,690,862 (GRCm39) |
D54N |
probably damaging |
Het |
| Or8b48 |
T |
A |
9: 38,493,330 (GRCm39) |
Y252* |
probably null |
Het |
| Or8s5 |
T |
A |
15: 98,238,421 (GRCm39) |
M150L |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,135 (GRCm39) |
S1672P |
unknown |
Het |
| Qprt |
A |
G |
7: 126,707,361 (GRCm39) |
V245A |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,325,176 (GRCm39) |
E377V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,491,061 (GRCm39) |
T71A |
probably benign |
Het |
| Ret |
A |
T |
6: 118,174,063 (GRCm39) |
L11Q |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,419,241 (GRCm39) |
V624I |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,213,304 (GRCm39) |
L131H |
unknown |
Het |
| Scgb2a2 |
A |
G |
19: 9,829,021 (GRCm39) |
R58G |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,583,875 (GRCm39) |
I1580T |
probably damaging |
Het |
| Slco4c1 |
T |
G |
1: 96,768,866 (GRCm39) |
K332T |
probably damaging |
Het |
| Sntg1 |
T |
G |
1: 8,518,289 (GRCm39) |
Y368S |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,057,615 (GRCm39) |
T143A |
probably benign |
Het |
| Tbr1 |
A |
G |
2: 61,642,160 (GRCm39) |
D475G |
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,136,760 (GRCm39) |
D47G |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,194 (GRCm39) |
D119G |
probably damaging |
Het |
| Trim40 |
C |
A |
17: 37,193,534 (GRCm39) |
R225M |
probably null |
Het |
| Tro |
GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
X: 149,428,852 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,885,593 (GRCm39) |
N870Y |
probably damaging |
Het |
| Tsr3 |
A |
G |
17: 25,459,445 (GRCm39) |
D47G |
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,455,161 (GRCm39) |
G38R |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,880 (GRCm39) |
Q166L |
possibly damaging |
Het |
| Wdr33 |
C |
T |
18: 32,026,056 (GRCm39) |
T919I |
unknown |
Het |
| Wdr36 |
T |
C |
18: 32,972,504 (GRCm39) |
V64A |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,538 (GRCm39) |
I237V |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,566 (GRCm39) |
I663N |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,507,519 (GRCm39) |
A513V |
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 |
|
|
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 |
|
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 |
2019-05-15 |
Incidental Mutation