Incidental Mutation 'R3014:Sv2a'
ID |
257587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sv2a
|
Ensembl Gene |
ENSMUSG00000038486 |
Gene Name |
synaptic vesicle glycoprotein 2a |
Synonyms |
|
MMRRC Submission |
040535-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3014 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
96088543-96102499 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 96096751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 416
(W416*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035371]
|
AlphaFold |
Q9JIS5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035371
AA Change: W416*
|
SMART Domains |
Protein: ENSMUSP00000037576 Gene: ENSMUSG00000038486 AA Change: W416*
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt4 |
G |
T |
2: 151,771,517 (GRCm39) |
V278L |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,633,827 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,321,304 (GRCm39) |
N3921K |
probably benign |
Het |
Duxf4 |
G |
A |
10: 58,071,356 (GRCm39) |
T286I |
possibly damaging |
Het |
Fam193a |
A |
T |
5: 34,623,016 (GRCm39) |
E1201D |
probably benign |
Het |
Gm10220 |
G |
C |
5: 26,322,826 (GRCm39) |
D195E |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,922,857 (GRCm39) |
K607E |
possibly damaging |
Het |
Gprin1 |
T |
A |
13: 54,886,288 (GRCm39) |
D662V |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,464,294 (GRCm39) |
I556T |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcar2 |
A |
T |
5: 124,002,768 (GRCm39) |
V245E |
probably damaging |
Het |
Hmces |
T |
G |
6: 87,894,823 (GRCm39) |
D62E |
probably benign |
Het |
Ighv1-4 |
T |
A |
12: 114,450,769 (GRCm39) |
Y113F |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kng1 |
C |
T |
16: 22,898,120 (GRCm39) |
H507Y |
possibly damaging |
Het |
Lypd10 |
A |
G |
7: 24,412,821 (GRCm39) |
I76M |
possibly damaging |
Het |
Map3k5 |
A |
T |
10: 19,970,175 (GRCm39) |
Y694F |
probably damaging |
Het |
Myo1a |
T |
G |
10: 127,552,214 (GRCm39) |
F778V |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Or1ad1 |
A |
G |
11: 50,875,534 (GRCm39) |
D2G |
probably benign |
Het |
Or4l1 |
G |
A |
14: 50,166,489 (GRCm39) |
H171Y |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,884 (GRCm39) |
V274A |
probably benign |
Het |
Or6z6 |
A |
T |
7: 6,491,470 (GRCm39) |
Y134* |
probably null |
Het |
Parp3 |
C |
A |
9: 106,348,514 (GRCm39) |
S507I |
possibly damaging |
Het |
Ppip5k2 |
T |
A |
1: 97,671,800 (GRCm39) |
T491S |
probably damaging |
Het |
Psmg1 |
T |
A |
16: 95,781,248 (GRCm39) |
I266F |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,218,763 (GRCm39) |
T476A |
probably benign |
Het |
Rttn |
G |
C |
18: 89,032,744 (GRCm39) |
V671L |
probably damaging |
Het |
Srsf7 |
T |
C |
17: 80,508,990 (GRCm39) |
E235G |
unknown |
Het |
Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
Tenm2 |
T |
C |
11: 35,914,800 (GRCm39) |
T2245A |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,319,627 (GRCm39) |
H451L |
possibly damaging |
Het |
Xkr6 |
T |
C |
14: 64,056,793 (GRCm39) |
Y235H |
unknown |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTAGATGTCTCAGACCACAC -3'
(R):5'- ACACTAACGTCTGCCTACTGAC -3'
Sequencing Primer
(F):5'- GCCTTCCCAGGGTGTTATGC -3'
(R):5'- GACCTCCAGTTCTTGCTTTTTCCAC -3'
|
Posted On |
2015-01-11 |