Incidental Mutation 'R4402:Gpt2'
ID |
326679 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpt2
|
Ensembl Gene |
ENSMUSG00000031700 |
Gene Name |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
Synonyms |
4631422C05Rik, ALT2 |
MMRRC Submission |
042003-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R4402 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
86219205-86254189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86252188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 501
(D501V)
|
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: D501V
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034136 Gene: ENSMUSG00000031700 AA Change: D501V
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (61/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
A |
11: 58,771,020 (GRCm39) |
H167Q |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,277,827 (GRCm39) |
T212A |
probably benign |
Het |
Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
Atl1 |
T |
G |
12: 70,005,973 (GRCm39) |
D426E |
probably benign |
Het |
Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
Canx |
T |
C |
11: 50,195,265 (GRCm39) |
T268A |
probably benign |
Het |
Chd7 |
A |
T |
4: 8,866,353 (GRCm39) |
M842L |
possibly damaging |
Het |
Clca4a |
T |
C |
3: 144,658,609 (GRCm39) |
T787A |
probably benign |
Het |
Clstn3 |
T |
C |
6: 124,433,939 (GRCm39) |
Y407C |
probably damaging |
Het |
Copa |
C |
A |
1: 171,929,791 (GRCm39) |
T286N |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Def6 |
A |
G |
17: 28,438,950 (GRCm39) |
K219E |
probably damaging |
Het |
Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
Eif5 |
A |
T |
12: 111,508,183 (GRCm39) |
K161N |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,292,363 (GRCm39) |
N475K |
possibly damaging |
Het |
Gm14569 |
T |
C |
X: 35,697,146 (GRCm39) |
Y521C |
probably benign |
Het |
Gm6124 |
T |
A |
7: 38,870,529 (GRCm39) |
|
noncoding transcript |
Het |
Gstm2 |
T |
C |
3: 107,893,370 (GRCm39) |
K31R |
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Itga1 |
T |
A |
13: 115,138,102 (GRCm39) |
M428L |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kcnn4 |
T |
C |
7: 24,076,867 (GRCm39) |
W139R |
probably benign |
Het |
Kdm7a |
T |
A |
6: 39,143,602 (GRCm39) |
R380W |
probably null |
Het |
Khdrbs1 |
T |
G |
4: 129,635,889 (GRCm39) |
D22A |
possibly damaging |
Het |
Liph |
A |
T |
16: 21,795,000 (GRCm39) |
I204N |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,529,456 (GRCm39) |
E2033G |
possibly damaging |
Het |
M6pr |
C |
T |
6: 122,291,982 (GRCm39) |
|
probably benign |
Het |
Mrm1 |
A |
G |
11: 84,709,915 (GRCm39) |
I95T |
probably damaging |
Het |
Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
Mug1 |
C |
A |
6: 121,856,311 (GRCm39) |
F1030L |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,341 (GRCm39) |
|
probably benign |
Het |
Nob1 |
A |
T |
8: 108,145,120 (GRCm39) |
|
probably benign |
Het |
Nutm1 |
A |
C |
2: 112,080,154 (GRCm39) |
I587R |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,428,455 (GRCm39) |
K143E |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,228,227 (GRCm39) |
Q1646R |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,646,365 (GRCm39) |
D390E |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,309,635 (GRCm39) |
L2771P |
probably damaging |
Het |
Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
Plekhn1 |
T |
C |
4: 156,309,813 (GRCm39) |
T135A |
probably damaging |
Het |
Pola1 |
T |
C |
X: 92,605,029 (GRCm39) |
Y968C |
probably damaging |
Het |
Ppp1r26 |
C |
A |
2: 28,341,618 (GRCm39) |
T416K |
probably benign |
Het |
Psmd1 |
A |
G |
1: 86,003,673 (GRCm39) |
I153V |
possibly damaging |
Het |
Rcan2 |
A |
G |
17: 44,264,361 (GRCm39) |
D7G |
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,433,599 (GRCm39) |
I326T |
possibly damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,530,802 (GRCm39) |
|
probably benign |
Het |
Shc1 |
T |
C |
3: 89,333,985 (GRCm39) |
S273P |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,293 (GRCm39) |
K256R |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tnfaip2 |
T |
C |
12: 111,416,285 (GRCm39) |
F516L |
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,039,981 (GRCm39) |
D362G |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,184,610 (GRCm39) |
V106A |
probably benign |
Het |
Zfp40 |
T |
A |
17: 23,395,693 (GRCm39) |
H230L |
possibly damaging |
Het |
Zkscan17 |
T |
A |
11: 59,393,848 (GRCm39) |
M1L |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTTTGGTGACTCAGAATCTGG -3'
(R):5'- CCACTGTTTGCTCGAAGAAC -3'
Sequencing Primer
(F):5'- GACTCAGAATCTGGTTTATTGCTTTC -3'
(R):5'- CTGTTTGCTCGAAGAACTCTCAAAC -3'
|
Posted On |
2015-07-07 |