Incidental Mutation 'IGL00570:Slc6a2'
| ID |
4990 |
| 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 # |
IGL00570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93687100-93728295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93723685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 601
(V601A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072939]
[ENSMUST00000165470]
|
| AlphaFold |
O55192 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072939
AA Change: V601A
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: V601A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165470
AA Change: V601A
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: V601A
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,000,073 (GRCm39) |
I1014V |
probably benign |
Het |
| Adam10 |
A |
G |
9: 70,626,028 (GRCm39) |
T99A |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,667,176 (GRCm39) |
I610F |
possibly damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,088 (GRCm39) |
T175A |
possibly damaging |
Het |
| Col25a1 |
C |
T |
3: 130,340,081 (GRCm39) |
|
probably benign |
Het |
| Dlat |
A |
T |
9: 50,556,332 (GRCm39) |
|
probably benign |
Het |
| Enah |
T |
C |
1: 181,763,261 (GRCm39) |
|
probably benign |
Het |
| Gm29253 |
T |
C |
1: 75,151,118 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,074,138 (GRCm39) |
Y337F |
probably damaging |
Het |
| Gsto1 |
T |
C |
19: 47,846,375 (GRCm39) |
V74A |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,526,218 (GRCm39) |
F46L |
probably benign |
Het |
| Hdac3 |
G |
A |
18: 38,077,174 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,735,719 (GRCm39) |
S3462G |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,830 (GRCm39) |
Y207C |
possibly damaging |
Het |
| Nat10 |
T |
A |
2: 103,556,109 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
A |
C |
2: 127,605,805 (GRCm39) |
V340G |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,326,545 (GRCm39) |
G1170E |
probably benign |
Het |
| Plcg1 |
T |
A |
2: 160,599,186 (GRCm39) |
V878E |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,729,925 (GRCm39) |
F69S |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,486 (GRCm39) |
I1733T |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,574 (GRCm39) |
I438T |
possibly damaging |
Het |
| Unc93a |
C |
A |
17: 13,339,643 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
G |
A |
11: 73,976,631 (GRCm39) |
A967T |
probably benign |
Het |
|
| Other mutations in Slc6a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01531:Slc6a2
|
APN |
8 |
93,722,310 (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 |
2012-04-20 |
Incidental Mutation