Incidental Mutation 'IGL03067:Sv2a'
| ID |
409739 |
| 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 # |
IGL03067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96088543-96102499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96092498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035371]
|
| AlphaFold |
Q9JIS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035371
AA Change: Y66C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: Y66C
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,900,909 (GRCm39) |
D1162E |
probably benign |
Het |
| Abhd2 |
T |
C |
7: 79,009,782 (GRCm39) |
F386L |
probably benign |
Het |
| Adamts6 |
C |
T |
13: 104,433,783 (GRCm39) |
R71W |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,590,599 (GRCm39) |
Y4403C |
probably damaging |
Het |
| Aldoart1 |
A |
T |
4: 72,770,194 (GRCm39) |
C205S |
possibly damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,552,935 (GRCm39) |
A711S |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,124,794 (GRCm39) |
I496T |
probably benign |
Het |
| Cyp27a1 |
A |
G |
1: 74,771,068 (GRCm39) |
|
probably null |
Het |
| Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
| Dpy19l1 |
A |
G |
9: 24,349,956 (GRCm39) |
V428A |
probably benign |
Het |
| Foxk2 |
C |
T |
11: 121,176,394 (GRCm39) |
T180M |
possibly damaging |
Het |
| Gm3402 |
C |
A |
5: 146,451,399 (GRCm39) |
H86N |
possibly damaging |
Het |
| Gm3543 |
A |
G |
14: 41,802,830 (GRCm39) |
|
probably benign |
Het |
| Gnai3 |
T |
C |
3: 108,025,609 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,236,642 (GRCm39) |
P395L |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,226,339 (GRCm39) |
I2445V |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,167,157 (GRCm39) |
T465A |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,226,680 (GRCm39) |
L1322F |
probably damaging |
Het |
| Man1b1 |
T |
C |
2: 25,239,344 (GRCm39) |
Y536H |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,092,477 (GRCm39) |
H170R |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,648,038 (GRCm39) |
T59S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,676,878 (GRCm39) |
V1030A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,388,628 (GRCm39) |
|
probably null |
Het |
| Pilra |
T |
C |
5: 137,821,843 (GRCm39) |
Y264C |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,067,910 (GRCm39) |
V1799A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,284,238 (GRCm39) |
S649P |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,159,413 (GRCm39) |
M426V |
probably damaging |
Het |
| Rpl9 |
A |
G |
5: 65,548,191 (GRCm39) |
I18T |
possibly damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,837,849 (GRCm39) |
E217* |
probably null |
Het |
| Smtn |
C |
A |
11: 3,480,165 (GRCm39) |
R352L |
possibly damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,265,600 (GRCm39) |
D647Y |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,605,272 (GRCm39) |
I107T |
probably damaging |
Het |
| Yif1a |
T |
C |
19: 5,139,813 (GRCm39) |
V86A |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,801 (GRCm39) |
T176A |
possibly damaging |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation