Incidental Mutation 'R2182:Slc6a2'
| ID |
237242 |
| 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 |
040184-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
R2182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93687100-93728295 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 93687876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072939]
[ENSMUST00000165470]
|
| AlphaFold |
O55192 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072939
AA Change: M1V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165470
AA Change: M1V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
G |
9: 53,334,243 (GRCm39) |
H17R |
probably damaging |
Het |
| Abca15 |
G |
A |
7: 119,939,450 (GRCm39) |
W281* |
probably null |
Het |
| Aloxe3 |
G |
A |
11: 69,020,426 (GRCm39) |
V157M |
possibly damaging |
Het |
| Arhgap26 |
G |
T |
18: 39,490,862 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,504,563 (GRCm39) |
N698S |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,990,716 (GRCm39) |
|
probably null |
Het |
| Clgn |
C |
T |
8: 84,137,039 (GRCm39) |
T252I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,571 (GRCm39) |
N179Y |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,151,082 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
G |
T |
7: 109,533,201 (GRCm39) |
R190S |
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,460,471 (GRCm39) |
G384V |
probably null |
Het |
| Dxo |
T |
C |
17: 35,057,868 (GRCm39) |
V191A |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
G |
12: 76,909,309 (GRCm39) |
N99S |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,680,820 (GRCm39) |
I164K |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,697,909 (GRCm39) |
D75G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,879 (GRCm39) |
I325T |
probably damaging |
Het |
| Igsf8 |
G |
A |
1: 172,118,295 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,002,612 (GRCm39) |
V17A |
possibly damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,122 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,386,464 (GRCm39) |
V1296A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,266,959 (GRCm39) |
L318Q |
probably damaging |
Het |
| Mpl |
T |
A |
4: 118,314,610 (GRCm39) |
Q13L |
probably benign |
Het |
| Mpnd |
A |
G |
17: 56,322,964 (GRCm39) |
S399G |
probably benign |
Het |
| Mrps5 |
T |
C |
2: 127,444,407 (GRCm39) |
L347P |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,550,188 (GRCm39) |
Q1217H |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,247,002 (GRCm39) |
V2176I |
probably benign |
Het |
| Obi1 |
A |
G |
14: 104,743,612 (GRCm39) |
S156P |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,542 (GRCm39) |
*313R |
probably null |
Het |
| Or7g33 |
T |
C |
9: 19,448,638 (GRCm39) |
N196S |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,420 (GRCm39) |
N84S |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,722 (GRCm39) |
M98K |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,814,640 (GRCm39) |
Y324* |
probably null |
Het |
| Pcsk7 |
T |
A |
9: 45,839,917 (GRCm39) |
C702S |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,760 (GRCm39) |
H138L |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,801,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,027,028 (GRCm39) |
M905V |
probably benign |
Het |
| Scarf2 |
T |
C |
16: 17,620,886 (GRCm39) |
C185R |
probably damaging |
Het |
| Scd1 |
T |
G |
19: 44,391,732 (GRCm39) |
I101L |
probably benign |
Het |
| Sost |
T |
C |
11: 101,854,676 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,405 (GRCm39) |
S828P |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,968,170 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,745,816 (GRCm39) |
K1319R |
unknown |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,931 (GRCm39) |
T765A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,325,691 (GRCm39) |
T103K |
possibly damaging |
Het |
| Zbtb44 |
T |
C |
9: 30,977,972 (GRCm39) |
C429R |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,156,441 (GRCm39) |
G327D |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,807,417 (GRCm39) |
C1876R |
probably damaging |
Het |
| Zfp839 |
C |
T |
12: 110,834,772 (GRCm39) |
L676F |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,544 (GRCm39) |
L139P |
probably damaging |
Het |
| Zscan12 |
A |
G |
13: 21,552,961 (GRCm39) |
I262V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTGGAAGCTGGGAGTCC -3'
(R):5'- ACCACCATTCTTGTAGCAGAG -3'
Sequencing Primer
(F):5'- GAGTCCGCTCAGCCCTAAGATC -3'
(R):5'- CCACCATTCTTGTAGCAGAGATAAGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation