Incidental Mutation 'R3107:Slc6a2'
| ID |
263622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a2
|
| Ensembl Gene |
ENSMUSG00000055368 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 |
| Synonyms |
NE transporter, Slc6a5, NET, norepinephrine transporter |
| MMRRC Submission |
040581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.535)
|
| Stock # |
R3107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93687100-93728295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93687906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 11
(Q11K)
|
| 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: Q11K
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: Q11K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165470
AA Change: Q11K
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: Q11K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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 |
|---|
| Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
| Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
| Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
| Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
| Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
| Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
| Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
| Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
| Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGATCCTGACGTCTGGGCTC -3'
(R):5'- CCACCACCATTCTTGTAGCAG -3'
Sequencing Primer
(F):5'- TCCCCTGGGTGGTCTCAG -3'
(R):5'- CCACCATTCTTGTAGCAGAGATAAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation