Mutagenetix > Incidental Mutations

Incidental Mutation 'R0510:Sv2b'

47806

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2 b

Synonyms

A830038F04Rik

MMRRC Submission

038704-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75114894-75309262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75136392 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 427 (M427L)

Ref Sequence

ENSEMBL: ENSMUSP00000146049 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085164
AA Change: M427L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: M427L

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 benign
Transcript: ENSMUST00000165175
AA Change: M427L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: M427L

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 benign
Transcript: ENSMUST00000206344
AA Change: M427L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (102/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	A	T	18: 34,596,151	D42E	probably damaging	Het
Abcg3	A	G	5: 104,977,616	I67T	probably damaging	Het
Acoxl	G	A	2: 127,880,503		probably null	Het
Adam10	T	A	9: 70,748,248	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232	R5627*	probably null	Het
Alms1	A	T	6: 85,620,369	R1195*	probably null	Het
Ap2m1	T	A	16: 20,542,240	I334N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc110	T	A	8: 45,935,157	N50K	probably benign	Het
Cdhr1	T	C	14: 37,080,676	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,691,596		probably null	Het
Celsr3	G	A	9: 108,827,005	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,913,351	Y676N	probably damaging	Het
Col11a1	A	T	3: 114,105,456		probably benign	Het
Cpe	T	A	8: 64,611,467	I233F	probably damaging	Het
Cpsf1	A	T	15: 76,603,657		probably benign	Het
Cpsf2	T	C	12: 101,988,786	V272A	probably damaging	Het
Creld2	A	T	15: 88,819,956	N50I	probably damaging	Het
Cyb5r1	T	C	1: 134,409,692		probably benign	Het
Dcaf11	T	C	14: 55,569,080	V446A	probably damaging	Het
Defa34	A	G	8: 21,665,972		probably null	Het
Dgat1	T	C	15: 76,511,567	Y72C	possibly damaging	Het
Efr3b	G	T	12: 3,982,058	D183E	probably benign	Het
Enpp3	A	T	10: 24,776,781	D759E	probably damaging	Het
Epyc	A	G	10: 97,649,763	T22A	probably benign	Het
Etfbkmt	C	T	6: 149,150,584	R96W	probably benign	Het
Fam83b	G	T	9: 76,492,826	L332I	possibly damaging	Het
Fat3	C	A	9: 15,999,685	E1674*	probably null	Het
Fbn1	A	G	2: 125,342,925		probably benign	Het
Gm5134	C	A	10: 75,974,245	T120N	probably benign	Het
Gm5415	T	A	1: 32,545,875	N318I	possibly damaging	Het
Gm8251	T	A	1: 44,061,097	K280N	possibly damaging	Het
Gmip	C	T	8: 69,815,609		probably benign	Het
Gpbp1	G	T	13: 111,440,745	Q204K	possibly damaging	Het
Gpr108	T	C	17: 57,235,358	D549G	possibly damaging	Het
Gsdme	C	A	6: 50,246,127		probably benign	Het
Gucy2e	T	C	11: 69,235,576	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,334,244	Q135*	probably null	Het
Hectd4	T	A	5: 121,281,896	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,305,673	E1319K	possibly damaging	Het
Hs3st2	T	C	7: 121,500,569	S213P	probably damaging	Het
Ikbkb	A	T	8: 22,671,635	C412*	probably null	Het
Itpr2	T	C	6: 146,417,979	T188A	possibly damaging	Het
Kcnh1	T	A	1: 192,418,941		probably benign	Het
Kctd21	T	C	7: 97,347,541	F74L	probably damaging	Het
Krt23	T	A	11: 99,486,782	I133L	probably damaging	Het
Krt74	T	C	15: 101,763,316		noncoding transcript	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lmtk3	T	A	7: 45,794,112	L740M	possibly damaging	Het
Lrrc10	T	A	10: 117,045,790	L123Q	probably damaging	Het
Map1a	A	T	2: 121,305,774	H2357L	probably benign	Het
Mbl1	A	G	14: 41,158,749	N198S	probably damaging	Het
Mcf2l	A	G	8: 12,997,337	D233G	probably damaging	Het
Msto1	A	G	3: 88,911,541	L269P	probably benign	Het
Mtss1	A	T	15: 58,956,538	D175E	probably benign	Het
Myef2	A	T	2: 125,109,034		probably benign	Het
Neb	A	T	2: 52,290,743		probably benign	Het
Olfr1138	A	G	2: 87,737,481	V281A	probably damaging	Het
Olfr1238	A	T	2: 89,406,791	M96K	probably damaging	Het
Olfr305	T	C	7: 86,363,827	N170S	probably benign	Het
Parp2	T	A	14: 50,819,673	Y361N	probably damaging	Het
Parp3	A	G	9: 106,471,796	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,290,976	N296Y	probably damaging	Het
Pdzrn3	A	T	6: 101,151,053	I884N	probably damaging	Het
Pim1	T	C	17: 29,493,909		probably benign	Het
Pou6f2	A	G	13: 18,139,723		probably benign	Het
Prelid3b	A	G	2: 174,465,950		probably benign	Het
Proc	G	A	18: 32,125,118	T258I	probably benign	Het
Rab3gap2	T	C	1: 185,260,508		probably benign	Het
Rb1cc1	A	C	1: 6,249,171	K938T	probably benign	Het
Rem2	T	C	14: 54,476,297		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rin2	A	G	2: 145,861,033	K550E	probably benign	Het
Rps6ka4	G	T	19: 6,840,498	T17N	probably benign	Het
Rtn4	T	A	11: 29,733,849		probably benign	Het
Ruvbl2	C	T	7: 45,431,306		probably benign	Het
Scaper	A	G	9: 55,758,062		probably benign	Het
Sdc2	T	C	15: 33,017,089		probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slco2b1	T	A	7: 99,661,536	M603L	probably benign	Het
Smpdl3b	A	G	4: 132,745,138	V108A	probably damaging	Het
Sptbn4	C	T	7: 27,361,566		probably null	Het
Srrm1	G	A	4: 135,338,543		probably benign	Het
Ssh1	A	T	5: 113,946,705	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548		probably null	Het
Syne1	A	G	10: 5,367,600	L498P	probably damaging	Het
Syne2	T	C	12: 75,854,149		probably null	Het
Taf6l	G	T	19: 8,778,521	H254Q	probably benign	Het
Traf3ip3	T	A	1: 193,178,231		probably null	Het
Trpm1	G	A	7: 64,223,758	G587D	probably damaging	Het
Ttn	A	G	2: 76,730,412	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,430,223	S2364A	probably benign	Het
Ush2a	T	A	1: 188,734,663		probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,427,792	S317T	possibly damaging	Het
Vwa2	A	G	19: 56,898,068		probably benign	Het
Wdr73	G	A	7: 80,897,950	Q107*	probably null	Het
Zbtb10	T	A	3: 9,264,668	V362E	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp296	A	T	7: 19,577,906	M113L	probably benign	Het
Zfp729b	A	T	13: 67,591,134	V1004E	probably benign	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
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
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'- GTTCAAGCTCAAAAGAGGACACGC -3'
(R):5'- TGGATGCAGATTCCACTGCTGAAAG -3'

Sequencing Primer
(F):5'- GGAGTCCATCCTTAGTACACCG -3'
(R):5'- TTCCACTGCTGAAAGAATGAGC -3'

Posted On

2013-06-12