Incidental Mutation 'IGL01531:Slc6a2'
| ID |
89754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a2
|
| Ensembl Gene |
ENSMUSG00000055368 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 |
| Synonyms |
NE transporter, Slc6a5, NET, norepinephrine transporter |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
IGL01531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93687100-93728295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93722310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 519
(L519P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072939]
[ENSMUST00000165470]
|
| AlphaFold |
O55192 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072939
AA Change: L519P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: L519P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165470
AA Change: L519P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: L519P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| 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 member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
PHENOTYPE: Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,603,494 (GRCm39) |
|
probably null |
Het |
| Abtb3 |
T |
C |
10: 85,465,069 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,119,414 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Blm |
A |
G |
7: 80,123,819 (GRCm39) |
Y1004H |
probably damaging |
Het |
| Cachd1 |
A |
C |
4: 100,810,231 (GRCm39) |
I278L |
probably benign |
Het |
| Ddx18 |
T |
A |
1: 121,492,315 (GRCm39) |
T131S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,374 (GRCm39) |
T120A |
probably damaging |
Het |
| Dnaja3 |
T |
G |
16: 4,512,268 (GRCm39) |
V224G |
probably damaging |
Het |
| Dntt |
A |
T |
19: 41,041,677 (GRCm39) |
R454* |
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,071,111 (GRCm39) |
T3083S |
probably benign |
Het |
| Eea1 |
C |
A |
10: 95,867,539 (GRCm39) |
T1045K |
probably damaging |
Het |
| Gpnmb |
T |
A |
6: 49,024,392 (GRCm39) |
|
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,548 (GRCm39) |
E108G |
possibly damaging |
Het |
| Il33 |
C |
A |
19: 29,929,381 (GRCm39) |
Q35K |
possibly damaging |
Het |
| Il6ra |
G |
A |
3: 89,793,350 (GRCm39) |
L267F |
probably damaging |
Het |
| Impact |
C |
T |
18: 13,109,076 (GRCm39) |
S69F |
probably benign |
Het |
| Klk1b9 |
G |
A |
7: 43,441,675 (GRCm39) |
G39D |
probably damaging |
Het |
| Ldah |
A |
G |
12: 8,277,337 (GRCm39) |
D91G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,341,898 (GRCm39) |
L1837P |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,938,555 (GRCm39) |
H1204Q |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,063,655 (GRCm39) |
E21G |
probably damaging |
Het |
| Or12k8 |
T |
C |
2: 36,975,407 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,321 (GRCm39) |
N42I |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 13,066,638 (GRCm39) |
K40N |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,419,168 (GRCm39) |
V648A |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,367,722 (GRCm39) |
K654E |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,047 (GRCm39) |
I309V |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,504,085 (GRCm39) |
I211V |
possibly damaging |
Het |
| Stau2 |
T |
C |
1: 16,415,922 (GRCm39) |
*480W |
probably null |
Het |
| Svopl |
T |
C |
6: 38,003,876 (GRCm39) |
|
probably benign |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,422,874 (GRCm39) |
T2713I |
unknown |
Het |
|
| Other mutations in Slc6a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Slc6a2
|
APN |
8 |
93,723,685 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL00864:Slc6a2
|
APN |
8 |
93,722,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00910:Slc6a2
|
APN |
8 |
93,722,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02209:Slc6a2
|
APN |
8 |
93,720,688 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02962:Slc6a2
|
APN |
8 |
93,699,390 (GRCm39) |
nonsense |
probably null |
|
|
IGL03391:Slc6a2
|
APN |
8 |
93,688,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Slc6a2
|
UTSW |
8 |
93,721,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0308:Slc6a2
|
UTSW |
8 |
93,687,988 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0632:Slc6a2
|
UTSW |
8 |
93,719,429 (GRCm39) |
splice site |
probably benign |
|
|
R0765:Slc6a2
|
UTSW |
8 |
93,715,659 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1250:Slc6a2
|
UTSW |
8 |
93,719,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1444:Slc6a2
|
UTSW |
8 |
93,697,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1637:Slc6a2
|
UTSW |
8 |
93,708,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1699:Slc6a2
|
UTSW |
8 |
93,699,440 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1760:Slc6a2
|
UTSW |
8 |
93,687,846 (GRCm39) |
splice site |
probably benign |
|
|
R2046:Slc6a2
|
UTSW |
8 |
93,699,554 (GRCm39) |
nonsense |
probably null |
|
|
R2169:Slc6a2
|
UTSW |
8 |
93,720,729 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2182:Slc6a2
|
UTSW |
8 |
93,687,876 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R3107:Slc6a2
|
UTSW |
8 |
93,687,906 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3880:Slc6a2
|
UTSW |
8 |
93,716,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Slc6a2
|
UTSW |
8 |
93,721,347 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5684:Slc6a2
|
UTSW |
8 |
93,715,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Slc6a2
|
UTSW |
8 |
93,708,609 (GRCm39) |
missense |
probably benign |
|
|
R6932:Slc6a2
|
UTSW |
8 |
93,722,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Slc6a2
|
UTSW |
8 |
93,722,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Slc6a2
|
UTSW |
8 |
93,720,766 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8320:Slc6a2
|
UTSW |
8 |
93,719,476 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8920:Slc6a2
|
UTSW |
8 |
93,687,990 (GRCm39) |
missense |
probably benign |
|
|
R8963:Slc6a2
|
UTSW |
8 |
93,715,702 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2013-12-03 |
Incidental Mutation