Incidental Mutation 'R5684:Slc6a2'
| ID |
443237 |
| 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 |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93687100-93728295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93715681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 273
(V273D)
|
| 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: V273D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: V273D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165470
AA Change: V273D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: V273D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
56 |
580 |
4.7e-242 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
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 |
|
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 |
|
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'- ACCTCCAACACTAGGAGAAGGG -3'
(R):5'- GCCTTGATCTACCTCACAGTG -3'
Sequencing Primer
(F):5'- CTCCAACACTAGGAGAAGGGAAGTG -3'
(R):5'- GATCTACCTCACAGTGGTAAGCTAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation