Incidental Mutation 'IGL02209:Slc6a2'
ID |
284637 |
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: 0.535)
|
Stock # |
IGL02209
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93687100-93728295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93720688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 435
(F435Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072939]
[ENSMUST00000165470]
|
AlphaFold |
O55192 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072939
AA Change: F435Y
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072709 Gene: ENSMUSG00000055368 AA Change: F435Y
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165470
AA Change: F435Y
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000129869 Gene: ENSMUSG00000055368 AA Change: F435Y
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,274,901 (GRCm39) |
R82Q |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,687,492 (GRCm39) |
Y258C |
probably damaging |
Het |
Anapc5 |
A |
G |
5: 122,938,676 (GRCm39) |
I366T |
possibly damaging |
Het |
Crkl |
C |
T |
16: 17,287,098 (GRCm39) |
T218I |
probably benign |
Het |
Egf |
A |
T |
3: 129,500,956 (GRCm39) |
I213K |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,360,491 (GRCm39) |
T33A |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,975,942 (GRCm39) |
D93G |
probably damaging |
Het |
Hook3 |
C |
T |
8: 26,560,293 (GRCm39) |
D311N |
probably damaging |
Het |
Iglv3 |
T |
C |
16: 19,060,420 (GRCm39) |
T4A |
probably benign |
Het |
Kctd17 |
A |
G |
15: 78,319,792 (GRCm39) |
N70S |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,752,448 (GRCm39) |
|
probably benign |
Het |
Lrif1 |
A |
C |
3: 106,639,045 (GRCm39) |
L18F |
probably damaging |
Het |
Mfsd1 |
A |
G |
3: 67,505,465 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,594,499 (GRCm39) |
Y101H |
probably damaging |
Het |
Mycbpap |
G |
A |
11: 94,400,708 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,027 (GRCm39) |
D183G |
probably benign |
Het |
Nppc |
T |
C |
1: 86,597,387 (GRCm39) |
*127W |
probably null |
Het |
Or10al3 |
G |
A |
17: 38,011,883 (GRCm39) |
M107I |
probably damaging |
Het |
Or1ak2 |
C |
T |
2: 36,827,517 (GRCm39) |
P129S |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,123 (GRCm39) |
I154V |
probably benign |
Het |
Or51i2 |
T |
G |
7: 103,689,663 (GRCm39) |
L220R |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,342 (GRCm39) |
K146E |
possibly damaging |
Het |
Pde5a |
A |
G |
3: 122,618,664 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,365,296 (GRCm39) |
V1139A |
probably damaging |
Het |
Pwwp2b |
G |
A |
7: 138,835,021 (GRCm39) |
R154Q |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,910,677 (GRCm39) |
V264I |
probably damaging |
Het |
Stmn2 |
T |
C |
3: 8,625,321 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,784,307 (GRCm39) |
I277T |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,139 (GRCm39) |
A2598T |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,726,684 (GRCm39) |
V427M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn1r173 |
G |
A |
7: 23,402,586 (GRCm39) |
V274I |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,607,761 (GRCm39) |
F443S |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,882,671 (GRCm39) |
R974L |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,399,218 (GRCm39) |
S96T |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,204,824 (GRCm39) |
R395* |
probably null |
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 |
IGL01531:Slc6a2
|
APN |
8 |
93,722,310 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |