Mutagenetix > Incidental Mutations

Incidental Mutation 'R7452:Sv2b'

577806

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2 b

Synonyms

A830038F04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75114894-75309262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75147713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 311 (D311V)

Ref Sequence

ENSEMBL: ENSMUSP00000082254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085164] [ENSMUST00000165175] [ENSMUST00000206344]

AlphaFold

Q8BG39

Predicted Effect

probably damaging
Transcript: ENSMUST00000085164
AA Change: D311V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: D311V

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

probably damaging
Transcript: ENSMUST00000165175
AA Change: D311V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: D311V

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

probably damaging
Transcript: ENSMUST00000206344
AA Change: D311V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000207001
AA Change: M5L

Meta Mutation Damage Score

0.3067

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in Sv2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01463:Sv2b	APN	7	75136455	missense	probably damaging	1.00
IGL02302:Sv2b	APN	7	75124199	missense	probably damaging	0.98
IGL02352:Sv2b	APN	7	75136449	missense	probably benign	0.01
IGL02359:Sv2b	APN	7	75136449	missense	probably benign	0.01
IGL02698:Sv2b	APN	7	75140978	critical splice donor site	probably null
IGL02713:Sv2b	APN	7	75124163	missense	possibly damaging	0.66
IGL03075:Sv2b	APN	7	75136320	missense	probably benign
IGL03392:Sv2b	APN	7	75156760	critical splice acceptor site	probably null
R0015:Sv2b	UTSW	7	75125641	missense	probably damaging	1.00
R0033:Sv2b	UTSW	7	75117741	missense	probably benign	0.00
R0033:Sv2b	UTSW	7	75117741	missense	probably benign	0.00
R0219:Sv2b	UTSW	7	75157267	critical splice donor site	probably null
R0277:Sv2b	UTSW	7	75206439	missense	possibly damaging	0.62
R0469:Sv2b	UTSW	7	75136392	missense	probably benign
R0510:Sv2b	UTSW	7	75136392	missense	probably benign
R1219:Sv2b	UTSW	7	75136412	missense	probably benign	0.01
R1307:Sv2b	UTSW	7	75206434	missense	probably damaging	1.00
R1476:Sv2b	UTSW	7	75120043	missense	possibly damaging	0.72
R1520:Sv2b	UTSW	7	75157329	missense	probably damaging	0.98
R1575:Sv2b	UTSW	7	75147677	missense	probably damaging	0.97
R1585:Sv2b	UTSW	7	75147677	missense	probably damaging	0.97
R1666:Sv2b	UTSW	7	75206341	missense	probably benign	0.01
R1712:Sv2b	UTSW	7	75149059	missense	possibly damaging	0.78
R1864:Sv2b	UTSW	7	75124080	missense	probably benign	0.17
R1993:Sv2b	UTSW	7	75206341	missense	probably benign	0.01
R2191:Sv2b	UTSW	7	75124088	missense	probably damaging	1.00
R3836:Sv2b	UTSW	7	75157428	missense	probably damaging	1.00
R4744:Sv2b	UTSW	7	75206518	missense	probably benign	0.01
R4757:Sv2b	UTSW	7	75124170	missense	probably benign	0.31
R4924:Sv2b	UTSW	7	75136421	missense	probably benign	0.20
R4990:Sv2b	UTSW	7	75117722	missense	possibly damaging	0.55
R4991:Sv2b	UTSW	7	75117722	missense	possibly damaging	0.55
R5038:Sv2b	UTSW	7	75157425	missense	probably damaging	1.00
R5726:Sv2b	UTSW	7	75124214	missense	possibly damaging	0.67
R5885:Sv2b	UTSW	7	75156753	missense	probably damaging	1.00
R6379:Sv2b	UTSW	7	75136300	missense	possibly damaging	0.73
R6410:Sv2b	UTSW	7	75140109	missense	probably benign	0.40
R6623:Sv2b	UTSW	7	75206384	missense	probably damaging	1.00
R6709:Sv2b	UTSW	7	75124139	missense	probably benign	0.40
R6873:Sv2b	UTSW	7	75206206	missense	probably damaging	1.00
R6889:Sv2b	UTSW	7	75125767	splice site	probably null
R7123:Sv2b	UTSW	7	75117702	missense	possibly damaging	0.94
R7278:Sv2b	UTSW	7	75147654	missense	probably damaging	0.99
R7363:Sv2b	UTSW	7	75147654	missense	probably damaging	0.99
R7378:Sv2b	UTSW	7	75147728	critical splice acceptor site	probably null
R7426:Sv2b	UTSW	7	75124064	missense	probably damaging	1.00
R7504:Sv2b	UTSW	7	75136383	missense	probably benign	0.14
R8425:Sv2b	UTSW	7	75117599	missense	probably damaging	1.00
R8490:Sv2b	UTSW	7	75206085	splice site	probably null
R8752:Sv2b	UTSW	7	75206094	missense	possibly damaging	0.85
R8905:Sv2b	UTSW	7	75117711	missense	probably benign	0.00
R9058:Sv2b	UTSW	7	75140074	critical splice donor site	probably null
R9075:Sv2b	UTSW	7	75140097	missense	possibly damaging	0.93
R9114:Sv2b	UTSW	7	75206269	missense	probably damaging	1.00
R9417:Sv2b	UTSW	7	75120024	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGATGAAGAGATCTTTCAAGTATGAC -3'
(R):5'- GTGTGGCATTTACCCCTTGG -3'

Sequencing Primer
(F):5'- AGATCTTTCAAGTATGACAATGACAG -3'
(R):5'- AGTTATCCTTCCAATGCAGACTGGG -3'

Posted On

2019-10-07