Incidental Mutation 'IGL01611:Gpt2'
| ID |
92111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpt2
|
| Ensembl Gene |
ENSMUSG00000031700 |
| Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
| Synonyms |
4631422C05Rik, ALT2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL01611
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86219205-86254189 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 86246167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 375
(C375*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034136]
[ENSMUST00000132932]
|
| AlphaFold |
Q8BGT5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034136
AA Change: C375*
|
| SMART Domains |
Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: C375*
| 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
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,954,644 (GRCm39) |
L209S |
possibly damaging |
Het |
| Abcc2 |
G |
T |
19: 43,815,068 (GRCm39) |
V1152F |
probably damaging |
Het |
| Adam9 |
C |
T |
8: 25,457,212 (GRCm39) |
V639I |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,805,989 (GRCm39) |
I388V |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,310,651 (GRCm39) |
W155* |
probably null |
Het |
| Chrna9 |
A |
G |
5: 66,128,287 (GRCm39) |
D161G |
probably damaging |
Het |
| Det1 |
A |
G |
7: 78,477,702 (GRCm39) |
V541A |
possibly damaging |
Het |
| Efhc1 |
G |
T |
1: 21,060,911 (GRCm39) |
*649L |
probably null |
Het |
| Ehbp1 |
C |
T |
11: 22,122,883 (GRCm39) |
V146M |
probably damaging |
Het |
| Enam |
A |
C |
5: 88,651,608 (GRCm39) |
D1039A |
probably damaging |
Het |
| Fam20b |
A |
T |
1: 156,530,035 (GRCm39) |
V133E |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,563,130 (GRCm39) |
Q459L |
probably benign |
Het |
| Gapdhs |
C |
T |
7: 30,429,866 (GRCm39) |
|
probably benign |
Het |
| Gm3404 |
T |
A |
5: 146,465,157 (GRCm39) |
V299D |
possibly damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,519,604 (GRCm39) |
H310N |
possibly damaging |
Het |
| Gpr157 |
T |
C |
4: 150,186,094 (GRCm39) |
S219P |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,748 (GRCm39) |
S274P |
probably damaging |
Het |
| Hmg20b |
C |
T |
10: 81,183,309 (GRCm39) |
V83M |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,944,302 (GRCm39) |
Y400* |
probably null |
Het |
| Ipo9 |
A |
T |
1: 135,314,431 (GRCm39) |
W942R |
possibly damaging |
Het |
| Iqch |
T |
C |
9: 63,403,519 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,127,383 (GRCm39) |
L393P |
probably benign |
Het |
| Kcnk12 |
T |
A |
17: 88,104,495 (GRCm39) |
I130L |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,434 (GRCm39) |
T205A |
probably damaging |
Het |
| Lpar6 |
G |
T |
14: 73,476,878 (GRCm39) |
A280S |
probably damaging |
Het |
| Mgarp |
A |
T |
3: 51,296,570 (GRCm39) |
V152E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,677,021 (GRCm39) |
D1184G |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,272,258 (GRCm39) |
|
probably null |
Het |
| Pde6b |
A |
G |
5: 108,551,262 (GRCm39) |
N182S |
possibly damaging |
Het |
| Pom121 |
T |
C |
5: 135,412,526 (GRCm39) |
K516E |
unknown |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,498,898 (GRCm39) |
|
probably benign |
Het |
| Rapgef5 |
C |
T |
12: 117,717,154 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,606,202 (GRCm39) |
L4460S |
possibly damaging |
Het |
| Sema6b |
T |
C |
17: 56,436,969 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
T |
A |
13: 33,850,375 (GRCm39) |
C67* |
probably null |
Het |
| Sorbs2 |
T |
G |
8: 46,248,381 (GRCm39) |
V510G |
probably null |
Het |
| Spic |
T |
A |
10: 88,511,864 (GRCm39) |
I131F |
possibly damaging |
Het |
| Spire2 |
T |
C |
8: 124,086,137 (GRCm39) |
S290P |
probably damaging |
Het |
| Tas2r117 |
C |
T |
6: 132,780,447 (GRCm39) |
S195F |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,450 (GRCm39) |
V196A |
probably damaging |
Het |
| Tff1 |
C |
T |
17: 31,381,703 (GRCm39) |
G58D |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,638,640 (GRCm39) |
T283A |
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,610,794 (GRCm39) |
L229H |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,488 (GRCm39) |
G488D |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,261,082 (GRCm39) |
V583D |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,855,255 (GRCm39) |
E286G |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,219,977 (GRCm39) |
I58N |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,800,973 (GRCm39) |
V109A |
probably damaging |
Het |
| Zfp319 |
C |
T |
8: 96,055,540 (GRCm39) |
R221Q |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation