Mutagenetix > Incidental Mutations

Incidental Mutation 'R2191:Sv2b'

238105

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2 b

Synonyms

A830038F04Rik

MMRRC Submission

040193-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75114894-75309262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75124088 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 545 (G545D)

Ref Sequence

ENSEMBL: ENSMUSP00000146049 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085164
AA Change: G545D

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

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: G545D

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: G545D

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

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: G545D

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: G545D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,866	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,867,956	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,699,140	E479D	probably damaging	Het
Actn1	A	T	12: 80,171,802	L736*	probably null	Het
Adcyap1	A	G	17: 93,200,026	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,566,290	N958S	possibly damaging	Het
Armc1	T	A	3: 19,134,061	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,753,051	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,443,845	Q1370K	probably damaging	Het
Ccdc129	A	T	6: 55,967,719	Q475L	probably benign	Het
Cdip1	C	T	16: 4,770,063	S12N	probably benign	Het
Chrna3	T	A	9: 55,016,045	I160F	probably damaging	Het
Cnot1	A	G	8: 95,761,426	I534T	probably damaging	Het
Cr2	T	A	1: 195,163,381	I465F	possibly damaging	Het
Daw1	A	G	1: 83,192,663	D232G	probably benign	Het
Dcaf6	T	C	1: 165,422,864	T144A	probably benign	Het
Dhx30	A	T	9: 110,086,118		probably null	Het
Dnah7a	A	G	1: 53,605,875	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,207,073	T184A	probably benign	Het
Dsg1b	T	C	18: 20,409,618	*1061Q	probably null	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Edem3	T	A	1: 151,796,883	V450D	probably damaging	Het
Ephb6	G	T	6: 41,616,085	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811	P608R	probably damaging	Het
Flrt1	A	G	19: 7,095,829	I451T	probably damaging	Het
Gm6309	A	T	5: 146,168,871	V161E	possibly damaging	Het
Gm884	A	C	11: 103,618,967		probably benign	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Igsf1	C	A	X: 49,783,150	L714F	probably damaging	Het
Inpp4b	C	T	8: 81,997,302	P488S	probably damaging	Het
Ints6l	T	A	X: 56,504,750	H678Q	probably benign	Het
Kdm2a	A	T	19: 4,356,931		probably null	Het
Khdrbs3	G	T	15: 69,092,960	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,861,049		probably null	Het
Laptm4a	T	C	12: 8,922,296		probably null	Het
Lrp2bp	C	T	8: 46,013,169	T105I	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mtmr3	A	T	11: 4,499,032	W244R	probably damaging	Het
Myo18a	A	G	11: 77,818,615	D138G	probably damaging	Het
Nlrp9b	A	T	7: 20,023,662	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720	R719H	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Olfr441	T	C	6: 43,116,065	S108P	probably benign	Het
Olfr937	A	T	9: 39,060,405	I87K	probably benign	Het
Omt2b	G	A	9: 78,328,175		probably benign	Het
Pclo	C	T	5: 14,713,848	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,415,957	N477S	probably benign	Het
Phf20	T	C	2: 156,276,654	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,191,199		probably null	Het
Plagl1	A	C	10: 13,128,941		probably benign	Het
Ppip5k2	A	G	1: 97,744,110	V479A	probably damaging	Het
Prkdc	A	C	16: 15,698,824	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,888,598	V6I	probably benign	Het
Rictor	A	T	15: 6,759,614	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Rttn	T	C	18: 89,095,648		probably null	Het
Setd5	C	T	6: 113,111,429	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,396,691	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,397	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,662,527	A52T	probably damaging	Het
Srebf1	T	C	11: 60,220,539	D2G	probably damaging	Het
Stab1	A	T	14: 31,142,800	M66K	probably benign	Het
Stab1	T	C	14: 31,159,270	N601S	probably damaging	Het
Syt5	G	A	7: 4,543,089	Q101*	probably null	Het
Thada	A	G	17: 84,446,521	F341L	probably benign	Het
Tln2	T	G	9: 67,355,221	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413		probably null	Het
Tonsl	G	T	15: 76,632,680	L917M	probably damaging	Het
Ttk	A	G	9: 83,862,183	K519E	probably damaging	Het
Ttn	T	C	2: 76,707,134	T34817A	probably benign	Het
Ubr1	A	T	2: 120,926,047	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566	C1312*	probably null	Het
Usp36	A	G	11: 118,285,023	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,099,233	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,502,885	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,108,139	F289L	probably benign	Het
Ythdf3	T	C	3: 16,203,211		probably benign	Het
Zfp507	T	A	7: 35,794,843	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,231,443	H156R	possibly 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
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
R7452:Sv2b	UTSW	7	75147713	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

Predicted Primers

PCR Primer
(F):5'- CCTTGGTTTAACAGCAGCAGATC -3'
(R):5'- CCCATAAAGAGGGCATCTGC -3'

Sequencing Primer
(F):5'- GTTTAACAGCAGCAGATCCAGCG -3'
(R):5'- GGGCATCTGCACTTCTGC -3'

Posted On

2014-10-02