Incidental Mutation 'IGL00771:Sv2a'
| ID |
14305 |
| 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 # |
IGL00771
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96088543-96102499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96100600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 661
(V661I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016087]
[ENSMUST00000035371]
[ENSMUST00000107099]
[ENSMUST00000177442]
|
| AlphaFold |
Q9JIS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016087
|
| SMART Domains |
Protein: ENSMUSP00000016087
Gene: ENSMUSG00000015943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:BolA
|
38 |
114 |
4e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035371
AA Change: V661I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: V661I
| 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 |
probably benign
Transcript: ENSMUST00000107099
|
| SMART Domains |
Protein: ENSMUSP00000102716
Gene: ENSMUSG00000015943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:BolA
|
38 |
114 |
4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177442
|
| SMART Domains |
Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:BolA
|
40 |
113 |
7.8e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196912
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
A |
G |
17: 48,452,855 (GRCm39) |
L28S |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,240,870 (GRCm39) |
L911Q |
probably damaging |
Het |
| Armc9 |
C |
A |
1: 86,127,557 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,524,560 (GRCm39) |
H196R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,404,354 (GRCm39) |
D1329G |
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,146,272 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,233,861 (GRCm39) |
C2184S |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,394,890 (GRCm39) |
F623L |
possibly damaging |
Het |
| Dmd |
G |
A |
X: 82,951,978 (GRCm39) |
|
probably null |
Het |
| F11r |
T |
A |
1: 171,290,510 (GRCm39) |
|
probably null |
Het |
| Gbp3 |
C |
T |
3: 142,271,005 (GRCm39) |
|
probably benign |
Het |
| Gpc4 |
A |
G |
X: 51,163,527 (GRCm39) |
S119P |
possibly damaging |
Het |
| H2-M10.2 |
A |
G |
17: 36,597,288 (GRCm39) |
L9P |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,053,106 (GRCm39) |
D144G |
probably damaging |
Het |
| Jaml |
A |
G |
9: 45,005,105 (GRCm39) |
K124E |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,005,802 (GRCm39) |
N950S |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,669,511 (GRCm39) |
D1099V |
probably damaging |
Het |
| Mlxipl |
C |
T |
5: 135,161,632 (GRCm39) |
T517I |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,274,512 (GRCm39) |
R308C |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,013,567 (GRCm39) |
L561* |
probably null |
Het |
| Prom1 |
A |
T |
5: 44,187,118 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,041,415 (GRCm39) |
E148V |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,443,835 (GRCm39) |
V224A |
probably damaging |
Het |
| Slc7a6 |
T |
C |
8: 106,905,872 (GRCm39) |
S35P |
probably benign |
Het |
| Snx17 |
C |
T |
5: 31,354,679 (GRCm39) |
R314C |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,982,231 (GRCm39) |
L371P |
probably damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,564 (GRCm39) |
M1I |
probably null |
Het |
| Taar7b |
T |
A |
10: 23,876,096 (GRCm39) |
V87E |
probably benign |
Het |
| Tcf7l2 |
G |
A |
19: 55,905,853 (GRCm39) |
V292I |
probably damaging |
Het |
| Teddm1b |
T |
A |
1: 153,750,340 (GRCm39) |
C50S |
possibly damaging |
Het |
| Trmt10a |
A |
G |
3: 137,856,216 (GRCm39) |
D159G |
probably benign |
Het |
| Urod |
T |
C |
4: 116,847,581 (GRCm39) |
N336S |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,567,353 (GRCm39) |
|
probably null |
Het |
| Zfp182 |
A |
G |
X: 20,896,896 (GRCm39) |
Y467H |
probably damaging |
Het |
|
| Other mutations in Sv2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02701:Sv2a
|
APN |
3 |
96,094,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-12-06 |
Incidental Mutation