Incidental Mutation 'R4991:Sv2b'
| ID |
386193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sv2b
|
| Ensembl Gene |
ENSMUSG00000053025 |
| Gene Name |
synaptic vesicle glycoprotein 2b |
| Synonyms |
A830038F04Rik |
| MMRRC Submission |
042585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4991 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
74764642-74959010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74767470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 642
(N642S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085164]
[ENSMUST00000165175]
[ENSMUST00000206344]
|
| AlphaFold |
Q8BG39 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085164
AA Change: N642S
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: N642S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
93 |
415 |
3.8e-29 |
PFAM |
|
Pfam:MFS_1
|
111 |
429 |
9.3e-25 |
PFAM |
|
Pfam:MFS_1
|
517 |
681 |
8.2e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165175
AA Change: N642S
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: N642S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
89 |
412 |
1.5e-29 |
PFAM |
|
Pfam:MFS_1
|
111 |
429 |
9.5e-25 |
PFAM |
|
Pfam:Pentapeptide_4
|
453 |
528 |
7.9e-11 |
PFAM |
|
Pfam:MFS_1
|
516 |
681 |
5.9e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206344
AA Change: N642S
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207001
|
| Meta Mutation Damage Score |
0.0930 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.0%
|
| Validation Efficiency |
95% (73/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation are phenotypically normal, and Sv2a/Sv2b double knockouts are no more affected than Sv2a single knockouts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
G |
T |
14: 56,010,922 (GRCm39) |
T665K |
probably benign |
Het |
| Adgrf3 |
C |
T |
5: 30,404,146 (GRCm39) |
V369M |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,246,927 (GRCm39) |
K571E |
probably benign |
Het |
| Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
| Asb14 |
T |
C |
14: 26,637,015 (GRCm39) |
S586P |
probably damaging |
Het |
| Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
| Chmp4b |
A |
G |
2: 154,534,545 (GRCm39) |
E187G |
probably benign |
Het |
| Cox6b2 |
T |
C |
7: 4,755,160 (GRCm39) |
D38G |
probably damaging |
Het |
| Cpm |
G |
A |
10: 117,504,008 (GRCm39) |
C138Y |
probably damaging |
Het |
| Csmd3 |
G |
T |
15: 47,864,874 (GRCm39) |
P785Q |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,219,720 (GRCm39) |
Y277C |
probably damaging |
Het |
| Cstf2t |
T |
A |
19: 31,061,983 (GRCm39) |
N506K |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,627,106 (GRCm39) |
T265S |
possibly damaging |
Het |
| Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
| Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
| Gm19684 |
A |
G |
17: 36,438,364 (GRCm39) |
|
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,106,121 (GRCm39) |
M37T |
probably benign |
Het |
| Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,096,450 (GRCm39) |
E252D |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,590,372 (GRCm39) |
F63I |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
| Itgb1bp1 |
C |
T |
12: 21,324,849 (GRCm39) |
G69D |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,130,637 (GRCm39) |
D418G |
probably benign |
Het |
| Kif1a |
T |
C |
1: 93,006,530 (GRCm39) |
T46A |
probably benign |
Het |
| Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
C |
16: 95,960,932 (GRCm39) |
E510G |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
| Mios |
T |
G |
6: 8,215,847 (GRCm39) |
S348A |
probably benign |
Het |
| Mog |
T |
C |
17: 37,328,381 (GRCm39) |
|
probably null |
Het |
| Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,878,122 (GRCm39) |
K134E |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,467,835 (GRCm39) |
C451Y |
probably damaging |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
| Nmnat1 |
G |
A |
4: 149,553,584 (GRCm39) |
T176M |
possibly damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,544 (GRCm39) |
S237P |
probably damaging |
Het |
| Or5b97 |
T |
G |
19: 12,878,815 (GRCm39) |
T110P |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,631 (GRCm39) |
M157V |
probably damaging |
Het |
| Osgin1 |
A |
G |
8: 120,172,028 (GRCm39) |
E274G |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,551,525 (GRCm39) |
R343W |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,398 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
| Pira12 |
T |
G |
7: 3,898,571 (GRCm39) |
Q292H |
probably benign |
Het |
| Samd4 |
A |
T |
14: 47,311,467 (GRCm39) |
S262C |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,672,207 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
| St3gal4 |
A |
G |
9: 34,964,432 (GRCm39) |
V190A |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
| Tmem201 |
A |
T |
4: 149,812,612 (GRCm39) |
Y235N |
possibly damaging |
Het |
| Tpx2 |
T |
C |
2: 152,711,644 (GRCm39) |
S60P |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,980,970 (GRCm39) |
Y144C |
probably benign |
Het |
| U90926 |
G |
A |
5: 92,357,879 (GRCm39) |
P91S |
probably benign |
Het |
| Utp20 |
G |
T |
10: 88,582,796 (GRCm39) |
H2780Q |
probably benign |
Het |
| Vmn1r215 |
T |
G |
13: 23,260,697 (GRCm39) |
F246V |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,338 (GRCm39) |
L237S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,929 (GRCm39) |
S817P |
probably damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,332,614 (GRCm39) |
|
probably null |
Het |
| Zfp212 |
G |
A |
6: 47,903,796 (GRCm39) |
R127H |
probably damaging |
Het |
| Zfp268 |
C |
A |
4: 145,348,904 (GRCm39) |
Q114K |
probably benign |
Het |
| Zfp740 |
G |
T |
15: 102,116,714 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sv2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01463:Sv2b
|
APN |
7 |
74,786,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:Sv2b
|
APN |
7 |
74,773,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02352:Sv2b
|
APN |
7 |
74,786,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02359:Sv2b
|
APN |
7 |
74,786,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02698:Sv2b
|
APN |
7 |
74,790,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02713:Sv2b
|
APN |
7 |
74,773,911 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03075:Sv2b
|
APN |
7 |
74,786,068 (GRCm39) |
missense |
probably benign |
|
|
IGL03392:Sv2b
|
APN |
7 |
74,806,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0015:Sv2b
|
UTSW |
7 |
74,775,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Sv2b
|
UTSW |
7 |
74,767,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Sv2b
|
UTSW |
7 |
74,767,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0219:Sv2b
|
UTSW |
7 |
74,807,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0277:Sv2b
|
UTSW |
7 |
74,856,187 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0469:Sv2b
|
UTSW |
7 |
74,786,140 (GRCm39) |
missense |
probably benign |
|
|
R0510:Sv2b
|
UTSW |
7 |
74,786,140 (GRCm39) |
missense |
probably benign |
|
|
R1219:Sv2b
|
UTSW |
7 |
74,786,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1307:Sv2b
|
UTSW |
7 |
74,856,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Sv2b
|
UTSW |
7 |
74,769,791 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1520:Sv2b
|
UTSW |
7 |
74,807,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1575:Sv2b
|
UTSW |
7 |
74,797,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1585:Sv2b
|
UTSW |
7 |
74,797,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1666:Sv2b
|
UTSW |
7 |
74,856,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1712:Sv2b
|
UTSW |
7 |
74,798,807 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1864:Sv2b
|
UTSW |
7 |
74,773,828 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1993:Sv2b
|
UTSW |
7 |
74,856,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2191:Sv2b
|
UTSW |
7 |
74,773,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Sv2b
|
UTSW |
7 |
74,807,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Sv2b
|
UTSW |
7 |
74,856,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4757:Sv2b
|
UTSW |
7 |
74,773,918 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4924:Sv2b
|
UTSW |
7 |
74,786,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4990:Sv2b
|
UTSW |
7 |
74,767,470 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5038:Sv2b
|
UTSW |
7 |
74,807,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Sv2b
|
UTSW |
7 |
74,773,962 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5885:Sv2b
|
UTSW |
7 |
74,806,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Sv2b
|
UTSW |
7 |
74,786,048 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6410:Sv2b
|
UTSW |
7 |
74,789,857 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6623:Sv2b
|
UTSW |
7 |
74,856,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Sv2b
|
UTSW |
7 |
74,773,887 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6873:Sv2b
|
UTSW |
7 |
74,855,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Sv2b
|
UTSW |
7 |
74,775,515 (GRCm39) |
splice site |
probably null |
|
|
R7123:Sv2b
|
UTSW |
7 |
74,767,450 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7278:Sv2b
|
UTSW |
7 |
74,797,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7363:Sv2b
|
UTSW |
7 |
74,797,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Sv2b
|
UTSW |
7 |
74,797,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7426:Sv2b
|
UTSW |
7 |
74,773,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Sv2b
|
UTSW |
7 |
74,797,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Sv2b
|
UTSW |
7 |
74,786,131 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8425:Sv2b
|
UTSW |
7 |
74,767,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8490:Sv2b
|
UTSW |
7 |
74,855,833 (GRCm39) |
splice site |
probably null |
|
|
R8752:Sv2b
|
UTSW |
7 |
74,855,842 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8905:Sv2b
|
UTSW |
7 |
74,767,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9058:Sv2b
|
UTSW |
7 |
74,789,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9075:Sv2b
|
UTSW |
7 |
74,789,845 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9114:Sv2b
|
UTSW |
7 |
74,856,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Sv2b
|
UTSW |
7 |
74,769,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9568:Sv2b
|
UTSW |
7 |
74,775,428 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9596:Sv2b
|
UTSW |
7 |
74,767,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9704:Sv2b
|
UTSW |
7 |
74,797,420 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9711:Sv2b
|
UTSW |
7 |
74,856,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9717:Sv2b
|
UTSW |
7 |
74,769,676 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9731:Sv2b
|
UTSW |
7 |
74,786,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTAGACAGTGAGAGGC -3'
(R):5'- GTGTTGGCTAAAATGAAATCGC -3'
Sequencing Primer
(F):5'- CTGTGCTGGAGTGTCCTGAAAAAG -3'
(R):5'- AGCGAAGCCCAGAATTTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation