Incidental Mutation 'R1536:Slc1a2'
| ID |
169509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a2
|
| Ensembl Gene |
ENSMUSG00000005089 |
| Gene Name |
solute carrier family 1 (glial high affinity glutamate transporter), member 2 |
| Synonyms |
GLT-1, Eaat2, GLT1, 2900019G14Rik, MGLT1, 1700091C19Rik |
| MMRRC Submission |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.375)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
102489004-102621129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102607855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 501
(D501V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005220]
[ENSMUST00000080210]
[ENSMUST00000111212]
[ENSMUST00000111213]
|
| AlphaFold |
P43006 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005220
AA Change: D498V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: D498V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
43 |
492 |
8.9e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080210
AA Change: D501V
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: D501V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
46 |
495 |
3e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111212
AA Change: D498V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: D498V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
43 |
492 |
9.5e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111213
AA Change: D501V
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: D501V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
46 |
495 |
2e-134 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122094
Gene: ENSMUSG00000005089
AA Change: D171V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
1 |
144 |
2.6e-53 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117549
Gene: ENSMUSG00000005089
AA Change: D85V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
1 |
80 |
5.5e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.1423 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in Slc1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Slc1a2
|
APN |
2 |
102,607,921 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL00588:Slc1a2
|
APN |
2 |
102,586,346 (GRCm39) |
missense |
probably benign |
|
|
IGL00931:Slc1a2
|
APN |
2 |
102,586,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00942:Slc1a2
|
APN |
2 |
102,570,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02100:Slc1a2
|
APN |
2 |
102,586,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02173:Slc1a2
|
APN |
2 |
102,574,206 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02184:Slc1a2
|
APN |
2 |
102,578,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Slc1a2
|
APN |
2 |
102,566,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Slc1a2
|
APN |
2 |
102,570,225 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03332:Slc1a2
|
APN |
2 |
102,578,879 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0335:Slc1a2
|
UTSW |
2 |
102,574,208 (GRCm39) |
missense |
probably benign |
|
|
R0544:Slc1a2
|
UTSW |
2 |
102,586,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0570:Slc1a2
|
UTSW |
2 |
102,586,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Slc1a2
|
UTSW |
2 |
102,568,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Slc1a2
|
UTSW |
2 |
102,607,912 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1936:Slc1a2
|
UTSW |
2 |
102,607,950 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1965:Slc1a2
|
UTSW |
2 |
102,570,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Slc1a2
|
UTSW |
2 |
102,566,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Slc1a2
|
UTSW |
2 |
102,578,798 (GRCm39) |
splice site |
probably null |
|
|
R2567:Slc1a2
|
UTSW |
2 |
102,597,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Slc1a2
|
UTSW |
2 |
102,591,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Slc1a2
|
UTSW |
2 |
102,578,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Slc1a2
|
UTSW |
2 |
102,578,883 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4744:Slc1a2
|
UTSW |
2 |
102,568,214 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5197:Slc1a2
|
UTSW |
2 |
102,586,460 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5835:Slc1a2
|
UTSW |
2 |
102,607,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Slc1a2
|
UTSW |
2 |
102,607,855 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7155:Slc1a2
|
UTSW |
2 |
102,597,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Slc1a2
|
UTSW |
2 |
102,586,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Slc1a2
|
UTSW |
2 |
102,566,299 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7492:Slc1a2
|
UTSW |
2 |
102,570,275 (GRCm39) |
nonsense |
probably null |
|
|
R7818:Slc1a2
|
UTSW |
2 |
102,574,301 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7868:Slc1a2
|
UTSW |
2 |
102,591,530 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8143:Slc1a2
|
UTSW |
2 |
102,568,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Slc1a2
|
UTSW |
2 |
102,568,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Slc1a2
|
UTSW |
2 |
102,586,298 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8508:Slc1a2
|
UTSW |
2 |
102,566,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8830:Slc1a2
|
UTSW |
2 |
102,566,360 (GRCm39) |
missense |
probably benign |
|
|
R8951:Slc1a2
|
UTSW |
2 |
102,586,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Slc1a2
|
UTSW |
2 |
102,591,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Slc1a2
|
UTSW |
2 |
102,568,176 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Slc1a2
|
UTSW |
2 |
102,591,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTATGCTCCCCAATGGGAAAG -3'
(R):5'- CCATGCTGGATGCAGAGTGAGATG -3'
Sequencing Primer
(F):5'- GCGCAGCTACCTTTAAGAATG -3'
(R):5'- CATATGCAGGTCTCGATATCCAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation