Incidental Mutation 'P0014:Slc38a2'
| ID |
7579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a2
|
| Ensembl Gene |
ENSMUSG00000022462 |
| Gene Name |
solute carrier family 38, member 2 |
| Synonyms |
SNAT2, 5033402L14Rik |
| MMRRC Submission |
038267-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
P0014 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96585273-96597611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96588042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 494
(W494L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023099]
|
| AlphaFold |
Q8CFE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023099
AA Change: W494L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023099
Gene: ENSMUSG00000022462
AA Change: W494L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
69 |
492 |
2e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229141
|
| Meta Mutation Damage Score |
0.8119 |
| Coding Region Coverage |
- 1x: 85.4%
- 3x: 80.7%
- 10x: 66.7%
- 20x: 50.4%
|
| Validation Efficiency |
95% (100/105) |
| Allele List at MGI |
All alleles(18) : Targeted(2) Gene trapped(16)
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,000,083 (GRCm39) |
Y1017C |
probably benign |
Het |
| Acly |
T |
C |
11: 100,375,430 (GRCm39) |
I787V |
probably benign |
Het |
| Aldob |
T |
C |
4: 49,538,153 (GRCm39) |
Q325R |
probably benign |
Het |
| Armh4 |
C |
T |
14: 49,989,116 (GRCm39) |
E618K |
probably damaging |
Het |
| Capns2 |
A |
G |
8: 93,628,842 (GRCm39) |
T244A |
probably damaging |
Het |
| Clec16a |
C |
T |
16: 10,378,020 (GRCm39) |
|
probably benign |
Het |
| Creb3 |
A |
G |
4: 43,563,265 (GRCm39) |
T121A |
possibly damaging |
Het |
| Ddah1 |
A |
G |
3: 145,558,913 (GRCm39) |
D160G |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,582,620 (GRCm39) |
H328Q |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,309,048 (GRCm39) |
L1901R |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,403,619 (GRCm39) |
L3448Q |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,615,154 (GRCm39) |
|
probably null |
Het |
| Lrrc8c |
T |
C |
5: 105,755,110 (GRCm39) |
V295A |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,524,781 (GRCm39) |
|
probably benign |
Het |
| Pkp2 |
C |
T |
16: 16,058,386 (GRCm39) |
P356L |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,082,640 (GRCm39) |
T752A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,628,814 (GRCm39) |
D12734G |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,281,950 (GRCm39) |
S742P |
probably damaging |
Het |
| Vwa3b |
C |
T |
1: 37,212,995 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc38a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01116:Slc38a2
|
APN |
15 |
96,591,066 (GRCm39) |
splice site |
probably benign |
|
|
IGL01522:Slc38a2
|
APN |
15 |
96,590,936 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01679:Slc38a2
|
APN |
15 |
96,595,835 (GRCm39) |
nonsense |
probably null |
|
|
IGL01720:Slc38a2
|
APN |
15 |
96,589,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02198:Slc38a2
|
APN |
15 |
96,590,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02685:Slc38a2
|
APN |
15 |
96,589,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03211:Slc38a2
|
APN |
15 |
96,596,153 (GRCm39) |
splice site |
probably null |
|
|
R0068:Slc38a2
|
UTSW |
15 |
96,589,173 (GRCm39) |
splice site |
probably null |
|
|
R0068:Slc38a2
|
UTSW |
15 |
96,589,173 (GRCm39) |
splice site |
probably null |
|
|
R0684:Slc38a2
|
UTSW |
15 |
96,593,168 (GRCm39) |
nonsense |
probably null |
|
|
R1537:Slc38a2
|
UTSW |
15 |
96,591,034 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1638:Slc38a2
|
UTSW |
15 |
96,590,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Slc38a2
|
UTSW |
15 |
96,589,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2294:Slc38a2
|
UTSW |
15 |
96,589,643 (GRCm39) |
missense |
probably benign |
|
|
R4672:Slc38a2
|
UTSW |
15 |
96,596,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5799:Slc38a2
|
UTSW |
15 |
96,592,970 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5878:Slc38a2
|
UTSW |
15 |
96,590,465 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6188:Slc38a2
|
UTSW |
15 |
96,590,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7097:Slc38a2
|
UTSW |
15 |
96,591,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7122:Slc38a2
|
UTSW |
15 |
96,591,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7130:Slc38a2
|
UTSW |
15 |
96,589,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Slc38a2
|
UTSW |
15 |
96,589,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Slc38a2
|
UTSW |
15 |
96,588,033 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7896:Slc38a2
|
UTSW |
15 |
96,591,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Slc38a2
|
UTSW |
15 |
96,590,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8427:Slc38a2
|
UTSW |
15 |
96,590,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8487:Slc38a2
|
UTSW |
15 |
96,593,172 (GRCm39) |
nonsense |
probably null |
|
|
R8845:Slc38a2
|
UTSW |
15 |
96,592,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Slc38a2
|
UTSW |
15 |
96,591,053 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9606:Slc38a2
|
UTSW |
15 |
96,591,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Protein Function and Prediction |
Slc38a2 [alternatively, amino acid transporter A2 (ATA2) or SNAT2] is a neutral amino acid transporter. It is involved in the glutamate/GAMA-glutamine cycle in neurotransmission (1). Slc38a2 regulates mTOR and proteolysis of skeletal muscle through phosphatidylinositol-3-kinase (2). SiRNA-mediated silencing of Slc38a2 in myotubules and myoblasts also impairs insulin signaling (2).
|
| Expression/Localization |
SLC38A2 is expressed in all human tissues, with the highest expression in the brain (3).
|
| References |
2. Evans, K., Nasim, Z., Brown, J., Clapp, E., Amin, A., Yang, B., Herbert, T. P., and Bevington, A. (2008) Inhibition of SNAT2 by Metabolic Acidosis Enhances Proteolysis in Skeletal Muscle. J Am Soc Nephrol. 19, 2119-2129.
3. Nagase, T., Kikuno, R., Ishikawa, K. I., Hirosawa, M., and Ohara, O. (2000) Prediction of the Coding Sequences of Unidentified Human Genes. XVI. the Complete Sequences of 150 New cDNA Clones from Brain which Code for Large Proteins in Vitro. DNA Res. 7, 65-73. |
| Posted On |
2012-10-05 |
| Science Writer |
Anne Murray |
Incidental Mutation