Incidental Mutation 'IGL01786:Sv2a'
ID |
155074 |
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 # |
IGL01786
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96088543-96102499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 96095525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 306
(Y306F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035371]
|
AlphaFold |
Q9JIS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035371
AA Change: Y306F
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000037576 Gene: ENSMUSG00000038486 AA Change: Y306F
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
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 |
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 |
2014-02-04 |