Incidental Mutation 'IGL02701:Sv2a'
| ID |
304119 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sv2a
|
| Ensembl Gene |
ENSMUSG00000038486 |
| Gene Name |
synaptic vesicle glycoprotein 2a |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96088543-96102499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96094447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 261
(C261S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035371]
|
| AlphaFold |
Q9JIS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035371
AA Change: C261S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: C261S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
138 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
149 |
484 |
5.3e-30 |
PFAM |
|
Pfam:MFS_1
|
168 |
483 |
1.6e-24 |
PFAM |
|
Pfam:Pentapeptide_4
|
513 |
585 |
7.7e-11 |
PFAM |
|
Pfam:MFS_1
|
561 |
739 |
3.9e-12 |
PFAM |
|
Pfam:Sugar_tr
|
588 |
742 |
4.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133665
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
G |
2: 20,896,902 (GRCm39) |
C125R |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,736 (GRCm39) |
D383G |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,061 (GRCm39) |
E691G |
probably damaging |
Het |
| Chrm3 |
G |
A |
13: 9,928,500 (GRCm39) |
R179* |
probably null |
Het |
| Cnrip1 |
A |
G |
11: 17,028,415 (GRCm39) |
T116A |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,389,934 (GRCm39) |
V2223A |
probably benign |
Het |
| Dalrd3 |
T |
A |
9: 108,449,483 (GRCm39) |
V143D |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,432,375 (GRCm39) |
I886L |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,635 (GRCm39) |
F1325L |
possibly damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,890,856 (GRCm39) |
T253S |
probably benign |
Het |
| Fads2b |
A |
G |
2: 85,314,513 (GRCm39) |
L480P |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,436,170 (GRCm39) |
S51L |
probably benign |
Het |
| Gde1 |
T |
A |
7: 118,297,860 (GRCm39) |
T9S |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,455 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,284,485 (GRCm39) |
A3481V |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
| Ighv12-3 |
A |
C |
12: 114,330,421 (GRCm39) |
S25A |
probably damaging |
Het |
| Itga5 |
A |
C |
15: 103,256,193 (GRCm39) |
C920G |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,846,681 (GRCm39) |
D118G |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 41,136,029 (GRCm39) |
N1647T |
possibly damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,649,079 (GRCm39) |
E363G |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,833,770 (GRCm39) |
Y41C |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,747,357 (GRCm39) |
V178A |
probably damaging |
Het |
| Or13c7d |
A |
G |
4: 43,770,366 (GRCm39) |
I215T |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,802 (GRCm39) |
I289V |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,649 (GRCm39) |
T242S |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,541 (GRCm39) |
V1464A |
unknown |
Het |
| Plekhg5 |
T |
C |
4: 152,187,479 (GRCm39) |
S82P |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,494 (GRCm39) |
T41A |
probably benign |
Het |
| Ppip5k1 |
A |
C |
2: 121,147,130 (GRCm39) |
|
probably null |
Het |
| Pttg1ip2 |
A |
G |
5: 5,516,623 (GRCm39) |
|
probably null |
Het |
| Rpl14 |
T |
C |
9: 120,402,639 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,247 (GRCm39) |
F554L |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,271 (GRCm39) |
V635E |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,903,623 (GRCm39) |
I353V |
probably benign |
Het |
| Tspan4 |
G |
A |
7: 141,071,941 (GRCm39) |
V205M |
probably damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,047 (GRCm39) |
R93* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,433,108 (GRCm39) |
V258D |
probably damaging |
Het |
| Zmynd12 |
G |
T |
4: 119,301,952 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sv2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Sv2a
|
APN |
3 |
96,100,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01081:Sv2a
|
APN |
3 |
96,097,012 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01786:Sv2a
|
APN |
3 |
96,095,525 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02220:Sv2a
|
APN |
3 |
96,098,032 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02740:Sv2a
|
APN |
3 |
96,092,723 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03067:Sv2a
|
APN |
3 |
96,092,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Sv2a
|
UTSW |
3 |
96,095,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Sv2a
|
UTSW |
3 |
96,101,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2071:Sv2a
|
UTSW |
3 |
96,101,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2902:Sv2a
|
UTSW |
3 |
96,101,072 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3014:Sv2a
|
UTSW |
3 |
96,096,751 (GRCm39) |
nonsense |
probably null |
|
|
R3153:Sv2a
|
UTSW |
3 |
96,092,574 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4472:Sv2a
|
UTSW |
3 |
96,099,810 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4653:Sv2a
|
UTSW |
3 |
96,098,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4791:Sv2a
|
UTSW |
3 |
96,099,874 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4844:Sv2a
|
UTSW |
3 |
96,095,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Sv2a
|
UTSW |
3 |
96,098,071 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5230:Sv2a
|
UTSW |
3 |
96,092,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Sv2a
|
UTSW |
3 |
96,092,774 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5656:Sv2a
|
UTSW |
3 |
96,092,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Sv2a
|
UTSW |
3 |
96,097,619 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5722:Sv2a
|
UTSW |
3 |
96,092,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6299:Sv2a
|
UTSW |
3 |
96,095,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6315:Sv2a
|
UTSW |
3 |
96,095,502 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7192:Sv2a
|
UTSW |
3 |
96,101,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Sv2a
|
UTSW |
3 |
96,095,525 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7691:Sv2a
|
UTSW |
3 |
96,095,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8795:Sv2a
|
UTSW |
3 |
96,094,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9009:Sv2a
|
UTSW |
3 |
96,094,409 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9143:Sv2a
|
UTSW |
3 |
96,097,983 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9149:Sv2a
|
UTSW |
3 |
96,097,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9335:Sv2a
|
UTSW |
3 |
96,092,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Sv2a
|
UTSW |
3 |
96,096,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0026:Sv2a
|
UTSW |
3 |
96,096,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation