Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03075:Sv2b'

417663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2 b

Synonyms

A830038F04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03075

Quality Score

Status

Chromosome

Chromosomal Location

75114894-75309262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75136320 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 451 (H451N)

Ref Sequence

ENSEMBL: ENSMUSP00000146049 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085164
AA Change: H451N

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

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: H451N

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: H451N

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

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: H451N

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: H451N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	G	A	13: 4,272,255	R263C	probably damaging	Het
Axdnd1	A	T	1: 156,395,442	S217T	probably damaging	Het
Crtc3	G	A	7: 80,604,403		probably benign	Het
Ctnna2	A	T	6: 76,954,730	M642K	probably benign	Het
Ddx56	A	T	11: 6,261,632	H491Q	probably benign	Het
Dvl1	A	G	4: 155,854,583	E208G	probably damaging	Het
Fam135a	A	G	1: 24,030,906		probably benign	Het
Gabpa	T	A	16: 84,852,607	V234D	possibly damaging	Het
Gjb4	A	G	4: 127,351,593	V185A	possibly damaging	Het
Hlcs	C	T	16: 94,138,847	A149T	probably damaging	Het
Il1f10	T	A	2: 24,293,176	I44N	possibly damaging	Het
Itih4	A	G	14: 30,892,283	I397V	probably benign	Het
Kat6b	C	T	14: 21,661,570	R820*	probably null	Het
Mmp17	T	C	5: 129,595,074	L137P	probably damaging	Het
Myh2	A	G	11: 67,180,836	N493S	probably benign	Het
Myo9b	A	T	8: 71,354,527	Q1589L	probably damaging	Het
Olfr202	T	A	16: 59,283,928	T190S	possibly damaging	Het
Olfr389	A	T	11: 73,776,472	L285Q	probably damaging	Het
Osbpl8	A	G	10: 111,291,556	I834V	probably benign	Het
P2ry12	A	T	3: 59,218,158	V32D	probably damaging	Het
Polg	A	G	7: 79,451,912	V1052A	probably damaging	Het
Prss38	A	C	11: 59,373,055	V277G	probably damaging	Het
Rell2	G	T	18: 37,957,681	R137L	probably damaging	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slco1a6	C	T	6: 142,103,149		probably benign	Het
Smyd2	T	A	1: 189,888,832	I230F	probably damaging	Het
Tbpl2	A	T	2: 24,071,985		probably benign	Het
Tmprss9	A	G	10: 80,884,029	D144G	possibly damaging	Het
Trove2	A	C	1: 143,770,771	S79A	probably benign	Het
Vwa8	T	C	14: 78,933,756	Y247H	probably damaging	Het
Zc3h15	T	C	2: 83,662,191	Y337H	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
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	intron	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

Posted On

2016-08-02