Incidental Mutation 'R7374:Sv2a'
| ID |
572257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sv2a
|
| Ensembl Gene |
ENSMUSG00000038486 |
| Gene Name |
synaptic vesicle glycoprotein 2a |
| Synonyms |
|
| MMRRC Submission |
045457-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7374 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,242,136 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Abcd4 |
A |
T |
12: 84,653,017 (GRCm39) |
L395* |
probably null |
Het |
| Cdh23 |
G |
A |
10: 60,153,679 (GRCm39) |
R2304W |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,126,883 (GRCm39) |
T432A |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,731 (GRCm39) |
W2792R |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,648 (GRCm39) |
|
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,804,998 (GRCm39) |
T580K |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,241,094 (GRCm39) |
D112V |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,519,465 (GRCm39) |
N25S |
probably damaging |
Het |
| Gas6 |
A |
T |
8: 13,524,802 (GRCm39) |
V330D |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,027,959 (GRCm39) |
T22A |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,641,240 (GRCm39) |
V108A |
|
Het |
| Gm8257 |
T |
C |
14: 44,887,740 (GRCm39) |
E215G |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,080,634 (GRCm39) |
S206T |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,648,383 (GRCm39) |
T118A |
probably benign |
Het |
| Hfe |
T |
G |
13: 23,890,030 (GRCm39) |
T248P |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 941,491 (GRCm39) |
W1231R |
probably benign |
Het |
| Ltbp2 |
C |
T |
12: 84,876,949 (GRCm39) |
D419N |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,980,109 (GRCm39) |
A232T |
|
Het |
| Mgam |
G |
A |
6: 40,734,373 (GRCm39) |
E1473K |
possibly damaging |
Het |
| Mtbp |
A |
C |
15: 55,426,355 (GRCm39) |
E99A |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,416,863 (GRCm39) |
T3270S |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,239,726 (GRCm39) |
Y28C |
|
Het |
| Nrxn1 |
A |
G |
17: 90,896,097 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
A |
G |
10: 93,518,434 (GRCm39) |
H247R |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,658,335 (GRCm39) |
V1568A |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,791 (GRCm39) |
G414D |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,946,095 (GRCm39) |
F31S |
probably damaging |
Het |
| Or8k25 |
C |
A |
2: 86,244,196 (GRCm39) |
A67S |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,204,780 (GRCm39) |
V547I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,962 (GRCm39) |
M223L |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,424 (GRCm39) |
S180P |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,471,235 (GRCm39) |
R1014W |
probably damaging |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Rhbdl2 |
G |
C |
4: 123,711,658 (GRCm39) |
V132L |
probably benign |
Het |
| Slc15a2 |
G |
T |
16: 36,572,207 (GRCm39) |
T719K |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,937,542 (GRCm39) |
T465A |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,125,644 (GRCm39) |
H364Q |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,354,533 (GRCm39) |
L401Q |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,300 (GRCm39) |
Y98C |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,639 (GRCm39) |
C195S |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,315,815 (GRCm39) |
Y191H |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,381,305 (GRCm39) |
I839V |
probably benign |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,118 (GRCm39) |
I141F |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,160 (GRCm39) |
H200R |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,881,607 (GRCm39) |
M491K |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,630 (GRCm39) |
I239V |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,758,939 (GRCm39) |
C1006W |
probably 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 |
|
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 |
|
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'- TGCCATCCCAAGAGTAGTGAC -3'
(R):5'- AAACACCCTCCAGCTGTGG -3'
Sequencing Primer
(F):5'- CCATCCCAAGAGTAGTGACTGGTG -3'
(R):5'- GAACTGGTAAGCAGAGCCCATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation