Mutagenetix > Incidental Mutations

Incidental Mutation 'R0033:Sv2b'

201267

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2 b

Synonyms

A830038F04Rik

MMRRC Submission

038327-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75114894-75309262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75117741 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 636 (F636L)

Ref Sequence

ENSEMBL: ENSMUSP00000146049 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085164
AA Change: F636L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: F636L

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: F636L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: F636L

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: F636L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

100% (81/81)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,188,064	F110L	probably damaging	Het
Agr3	C	T	12: 35,928,330	T14M	possibly damaging	Het
Ankib1	A	C	5: 3,769,588	D110E	possibly damaging	Het
Auts2	G	C	5: 131,440,093	D571E	probably damaging	Het
Cacna1d	T	A	14: 30,105,489	Q993L	probably damaging	Het
Cdkn3	C	A	14: 46,768,872	Y141*	probably null	Het
Ceacam12	T	G	7: 18,069,460		probably benign	Het
Celf1	T	C	2: 91,001,453		probably benign	Het
Col6a3	A	G	1: 90,802,245	S1780P	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Ctss	G	A	3: 95,545,577		probably benign	Het
D430042O09Rik	T	G	7: 125,761,827	V103G	possibly damaging	Het
Emilin2	G	T	17: 71,275,014	T239K	probably benign	Het
Erp44	T	C	4: 48,241,289		probably benign	Het
Fbxl4	T	C	4: 22,377,017	V151A	probably damaging	Het
Fer1l4	G	A	2: 156,024,106		probably benign	Het
Gm12794	A	T	4: 101,941,684	Y284F	probably benign	Het
Gm43302	T	C	5: 105,276,844	D310G	probably benign	Het
Gstk1	A	G	6: 42,246,803		probably benign	Het
Hapln1	A	T	13: 89,601,813	Q159L	probably benign	Het
Hibch	A	G	1: 52,905,451	K296R	probably null	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kdm7a	A	T	6: 39,165,197	Y382*	probably null	Het
Kirrel3	A	G	9: 35,000,963	I208V	probably benign	Het
Klc4	A	T	17: 46,635,433	C489S	probably damaging	Het
Lrrc8a	G	T	2: 30,255,345	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,276,509	N435D	possibly damaging	Het
Macc1	T	A	12: 119,446,341	N281K	probably benign	Het
Myo16	A	T	8: 10,370,955	Y265F	probably damaging	Het
Myoc	G	A	1: 162,648,441	G238E	probably damaging	Het
Nlrp12	A	C	7: 3,240,407	S492A	probably damaging	Het
Obscn	A	G	11: 58,994,746		probably benign	Het
Olfr1413	A	G	1: 92,573,260	T30A	probably benign	Het
Olfr486	G	T	7: 108,171,927	D272E	probably benign	Het
Oplah	T	A	15: 76,297,134	Q1202L	probably benign	Het
Ppargc1b	G	A	18: 61,307,694	R718W	probably damaging	Het
Pwwp2b	A	T	7: 139,254,928	D95V	possibly damaging	Het
Rnf225	T	C	7: 12,928,158	L88P	probably damaging	Het
Slc12a1	A	G	2: 125,214,009	D820G	probably benign	Het
Slc12a4	G	T	8: 105,947,479		probably benign	Het
Slx4	C	T	16: 3,988,000	A72T	probably benign	Het
Snrnp200	T	C	2: 127,238,063	I1920T	probably damaging	Het
Stap2	C	T	17: 55,999,976	V234M	probably damaging	Het
Tdp1	C	T	12: 99,935,052	T531I	probably benign	Het
Thra	G	A	11: 98,764,352	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,066,422		probably benign	Het
Tmx4	A	T	2: 134,600,998		probably null	Het
Tnfrsf12a	A	G	17: 23,676,145		probably null	Het
Trav6n-5	T	A	14: 53,104,911	M14K	probably benign	Het
Ttn	T	A	2: 76,742,280	I26090F	probably damaging	Het
Tut1	G	T	19: 8,962,759	R369L	probably benign	Het
Uba5	T	A	9: 104,054,148	T241S	probably benign	Het
Unc13d	T	C	11: 116,069,165	T597A	probably benign	Het
Vmn1r58	A	T	7: 5,410,388	I281K	probably damaging	Het
Vmn1r59	A	G	7: 5,454,434	V109A	probably benign	Het
Xdh	T	A	17: 73,907,632	M773L	probably benign	Het
Zfp64	A	T	2: 168,925,715	I659N	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
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

Predicted Primers

PCR Primer
(F):5'- GTTGGTCACATCAGGACTTGCTCTC -3'
(R):5'- ACGGTCCATCTCTGTTGCAGGAAG -3'

Sequencing Primer
(F):5'- TCGAGTCTCTGGCAATCGAAG -3'
(R):5'- acacagccagcagcaag -3'

Posted On

2014-05-27