Incidental Mutation 'IGL01081:Sv2a'
| ID |
50711 |
| 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 # |
IGL01081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96088543-96102499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96097012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 446
(I446F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035371]
|
| AlphaFold |
Q9JIS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035371
AA Change: I446F
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: I446F
| 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
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
A |
G |
9: 26,901,890 (GRCm39) |
L158P |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,197,576 (GRCm39) |
Q860R |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,181 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Adam26b |
T |
C |
8: 43,972,975 (GRCm39) |
I676V |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,920 (GRCm39) |
I282L |
probably benign |
Het |
| Capns1 |
G |
T |
7: 29,889,565 (GRCm39) |
S211R |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,245,983 (GRCm39) |
V1158A |
probably damaging |
Het |
| Cryl1 |
C |
T |
14: 57,523,821 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
A |
G |
9: 44,425,607 (GRCm39) |
|
probably benign |
Het |
| Dcaf13 |
A |
G |
15: 38,982,201 (GRCm39) |
K56E |
probably damaging |
Het |
| Dlx6 |
T |
G |
6: 6,867,068 (GRCm39) |
S85A |
probably damaging |
Het |
| Dsg2 |
C |
T |
18: 20,722,999 (GRCm39) |
|
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,549,665 (GRCm39) |
S412T |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,827,625 (GRCm39) |
|
probably benign |
Het |
| Fads3 |
T |
C |
19: 10,030,366 (GRCm39) |
I168T |
probably benign |
Het |
| Gm10295 |
G |
A |
7: 71,000,296 (GRCm39) |
P95S |
unknown |
Het |
| Gm43638 |
T |
C |
5: 87,634,455 (GRCm39) |
T51A |
probably damaging |
Het |
| Gm5114 |
G |
A |
7: 39,060,071 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,737 (GRCm39) |
T974M |
probably damaging |
Het |
| Ighv1-19-1 |
T |
C |
12: 114,672,258 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,191,723 (GRCm39) |
L173Q |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,531,338 (GRCm39) |
D210G |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,638,149 (GRCm39) |
N958K |
probably damaging |
Het |
| Msl3l2 |
G |
A |
10: 55,992,021 (GRCm39) |
A249T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,254 (GRCm39) |
E287G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,519 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or2b28 |
T |
G |
13: 21,531,185 (GRCm39) |
L29R |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,688,484 (GRCm39) |
T205A |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,955 (GRCm39) |
G41D |
probably benign |
Het |
| Pcsk7 |
A |
G |
9: 45,840,005 (GRCm39) |
D731G |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,480,298 (GRCm39) |
|
probably benign |
Het |
| Podxl |
T |
C |
6: 31,505,639 (GRCm39) |
T135A |
possibly damaging |
Het |
| Pole |
T |
G |
5: 110,485,106 (GRCm39) |
C407G |
possibly damaging |
Het |
| Prl |
C |
A |
13: 27,249,024 (GRCm39) |
N224K |
possibly damaging |
Het |
| Prnp |
A |
T |
2: 131,778,340 (GRCm39) |
|
probably benign |
Het |
| Proser2 |
A |
G |
2: 6,105,149 (GRCm39) |
*472R |
probably null |
Het |
| Rhag |
T |
C |
17: 41,122,178 (GRCm39) |
S38P |
possibly damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,856 (GRCm39) |
D10G |
probably damaging |
Het |
| Rps3a1 |
T |
C |
3: 86,049,085 (GRCm39) |
D29G |
probably benign |
Het |
| Tbc1d30 |
C |
A |
10: 121,103,319 (GRCm39) |
R571L |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,443,646 (GRCm39) |
|
probably null |
Het |
| Tnfaip1 |
G |
A |
11: 78,419,129 (GRCm39) |
P156S |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,166 (GRCm39) |
S133P |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,836 (GRCm39) |
R189K |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,983,726 (GRCm39) |
H564R |
probably benign |
Het |
| Zfp442 |
C |
A |
2: 150,251,267 (GRCm39) |
E211* |
probably null |
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 |
|
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 |
2013-06-21 |
Incidental Mutation