Incidental Mutation 'R5313:Slc18a2'
| ID |
405720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc18a2
|
| Ensembl Gene |
ENSMUSG00000025094 |
| Gene Name |
solute carrier family 18 (vesicular monoamine), member 2 |
| Synonyms |
Vmat2, 1110037L13Rik |
| MMRRC Submission |
042896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
59249328-59284444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59282275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 494
(K494R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026084]
[ENSMUST00000099274]
|
| AlphaFold |
Q8BRU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026084
AA Change: K494R
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094
AA Change: K494R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
428 |
6.8e-40 |
PFAM |
|
Pfam:Sugar_tr
|
26 |
284 |
5.9e-10 |
PFAM |
|
Pfam:MFS_2
|
127 |
457 |
4.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099274
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
PDZ
|
374 |
448 |
2.02e-10 |
SMART |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
C1
|
834 |
884 |
8.31e-8 |
SMART |
|
coiled coil region
|
1021 |
1057 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]
PHENOTYPE: Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,022,603 (GRCm39) |
C519R |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,118,651 (GRCm39) |
S966T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,529,349 (GRCm39) |
Y1115H |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Arhgef17 |
A |
C |
7: 100,578,131 (GRCm39) |
L939W |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,629 (GRCm39) |
|
probably null |
Het |
| Armh3 |
G |
A |
19: 45,807,414 (GRCm39) |
R661W |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 30,068,798 (GRCm39) |
I147S |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,911,998 (GRCm39) |
D525E |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,034,723 (GRCm39) |
I646F |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,822,743 (GRCm39) |
I205L |
unknown |
Het |
| Cpox |
T |
A |
16: 58,498,311 (GRCm39) |
Y381* |
probably null |
Het |
| Ctsc |
T |
C |
7: 87,958,761 (GRCm39) |
V347A |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,551,188 (GRCm39) |
E1027K |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,593,727 (GRCm39) |
T537S |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,666 (GRCm39) |
I168V |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,185 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,842,970 (GRCm39) |
D157E |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,500,812 (GRCm39) |
I414F |
possibly damaging |
Het |
| Glp2r |
T |
C |
11: 67,648,357 (GRCm39) |
D115G |
probably damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,301 (GRCm39) |
V201D |
probably damaging |
Het |
| Ido1 |
A |
C |
8: 25,077,794 (GRCm39) |
I91S |
probably damaging |
Het |
| Ism2 |
G |
A |
12: 87,326,536 (GRCm39) |
P468S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,538 (GRCm39) |
K1643E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,773,995 (GRCm39) |
V223A |
probably benign |
Het |
| Or4c122 |
C |
T |
2: 89,079,721 (GRCm39) |
E106K |
probably benign |
Het |
| Or5b112 |
G |
A |
19: 13,319,429 (GRCm39) |
M102I |
probably benign |
Het |
| Or6c2 |
C |
T |
10: 129,362,950 (GRCm39) |
P285S |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,615,581 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,532 (GRCm39) |
V714A |
probably damaging |
Het |
| Septin8 |
C |
T |
11: 53,426,809 (GRCm39) |
T190I |
probably damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,226,681 (GRCm39) |
K542N |
probably damaging |
Het |
| Snd1 |
C |
A |
6: 28,668,600 (GRCm39) |
T429K |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Timm10b |
T |
C |
7: 105,290,287 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,559,674 (GRCm39) |
Y373N |
probably damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,457 (GRCm39) |
V354D |
probably benign |
Het |
| Zbtb7b |
G |
T |
3: 89,288,626 (GRCm39) |
T64K |
probably damaging |
Het |
|
| Other mutations in Slc18a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Slc18a2
|
APN |
19 |
59,272,816 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01956:Slc18a2
|
APN |
19 |
59,275,608 (GRCm39) |
splice site |
probably benign |
|
|
IGL02220:Slc18a2
|
APN |
19 |
59,264,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02389:Slc18a2
|
APN |
19 |
59,251,733 (GRCm39) |
splice site |
probably benign |
|
|
IGL02795:Slc18a2
|
APN |
19 |
59,262,922 (GRCm39) |
splice site |
probably benign |
|
|
PIT4585001:Slc18a2
|
UTSW |
19 |
59,282,293 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0373:Slc18a2
|
UTSW |
19 |
59,275,799 (GRCm39) |
missense |
probably benign |
|
|
R1972:Slc18a2
|
UTSW |
19 |
59,263,085 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2018:Slc18a2
|
UTSW |
19 |
59,264,937 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3508:Slc18a2
|
UTSW |
19 |
59,261,989 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5574:Slc18a2
|
UTSW |
19 |
59,249,837 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6102:Slc18a2
|
UTSW |
19 |
59,282,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Slc18a2
|
UTSW |
19 |
59,272,584 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7607:Slc18a2
|
UTSW |
19 |
59,272,790 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7818:Slc18a2
|
UTSW |
19 |
59,251,593 (GRCm39) |
missense |
probably benign |
|
|
R8059:Slc18a2
|
UTSW |
19 |
59,272,572 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8762:Slc18a2
|
UTSW |
19 |
59,261,355 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8841:Slc18a2
|
UTSW |
19 |
59,261,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Slc18a2
|
UTSW |
19 |
59,282,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9230:Slc18a2
|
UTSW |
19 |
59,261,647 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9368:Slc18a2
|
UTSW |
19 |
59,262,791 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTATCTCCAACAGGTACAAGG -3'
(R):5'- ACTCTATGCCAGCAATGGATG -3'
Sequencing Primer
(F):5'- TGAAACTCTCCACTGCGTG -3'
(R):5'- TGGCGTGACTAAGACAGCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation