Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Sv2b'

576070

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2b

Synonyms

A830038F04Rik

MMRRC Submission

045504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74764642-74959010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74773812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 553 (N553S)

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: N553S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: N553S

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: N553S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: N553S

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: N553S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 119,945,221 (GRCm39)	N432K	possibly damaging	Het
Abitram	A	G	4: 56,804,230 (GRCm39)	I82V	probably null	Het
Adamtsl5	G	A	10: 80,180,693 (GRCm39)	T123I	probably benign	Het
Aff4	T	C	11: 53,263,702 (GRCm39)	S241P	probably damaging	Het
Agl	A	G	3: 116,552,404 (GRCm39)	L510P		Het
Aox1	A	T	1: 58,329,142 (GRCm39)	K196*	probably null	Het
Arhgef37	A	G	18: 61,637,456 (GRCm39)	L402P	probably damaging	Het
Arid4b	T	C	13: 14,355,891 (GRCm39)		probably null	Het
Atp5pb	A	G	3: 105,851,118 (GRCm39)	V193A	probably benign	Het
Atp8b3	A	G	10: 80,365,463 (GRCm39)		probably null	Het
Baz2a	G	T	10: 127,951,947 (GRCm39)	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345 (GRCm39)	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,819,128 (GRCm39)	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,368,428 (GRCm39)	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,704,159 (GRCm39)	F70S	probably damaging	Het
Cep162	C	T	9: 87,074,819 (GRCm39)	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,959,585 (GRCm39)	V855A	possibly damaging	Het
Chil3	G	T	3: 106,063,022 (GRCm39)	D189E	probably benign	Het
Cln3	A	G	7: 126,180,912 (GRCm39)	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,370,110 (GRCm39)	Q909R	probably benign	Het
Ctsd	C	A	7: 141,937,278 (GRCm39)	A77S	probably damaging	Het
Dnah12	T	A	14: 26,445,781 (GRCm39)	S781T	probably benign	Het
Dnah17	T	A	11: 117,981,543 (GRCm39)	Q1716L	probably null	Het
Dock3	C	A	9: 106,772,782 (GRCm39)	M490I	probably benign	Het
Erg	T	C	16: 95,260,015 (GRCm39)		probably null	Het
Farp2	A	T	1: 93,548,950 (GRCm39)	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 27,785,949 (GRCm39)	K462R	probably benign	Het
Fn1	A	T	1: 71,688,384 (GRCm39)	N173K	probably damaging	Het
Fsip2	A	T	2: 82,810,441 (GRCm39)	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,469,970 (GRCm39)	R413H	possibly damaging	Het
Galnt5	A	T	2: 57,907,151 (GRCm39)	D538V	probably damaging	Het
Gje1	T	A	10: 14,592,223 (GRCm39)	L186F	probably damaging	Het
Gm16686	A	T	4: 88,673,563 (GRCm39)	C89S	unknown	Het
Gna15	G	T	10: 81,338,831 (GRCm39)	A336E	probably benign	Het
Golga4	C	T	9: 118,388,563 (GRCm39)	S1895L	probably benign	Het
Gon4l	A	T	3: 88,814,829 (GRCm39)	M1933L	probably benign	Het
Gpr183	T	C	14: 122,192,156 (GRCm39)	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,980,250 (GRCm39)	T348I	probably damaging	Het
Hace1	T	C	10: 45,481,636 (GRCm39)	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,007,061 (GRCm39)	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,156,232 (GRCm39)	F66S	probably benign	Het
Hoxd12	A	T	2: 74,505,569 (GRCm39)	S47C	possibly damaging	Het
Hp	C	A	8: 110,301,832 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,508,492 (GRCm39)	D355E	probably benign	Het
Itga2b	A	T	11: 102,347,120 (GRCm39)	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529 (GRCm39)	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,523,571 (GRCm39)	T249S	probably benign	Het
Klhl11	G	T	11: 100,355,178 (GRCm39)	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,131,705 (GRCm39)	Y76N	probably damaging	Het
Lama4	G	T	10: 38,921,751 (GRCm39)	R424L	possibly damaging	Het
Lepr	A	G	4: 101,602,853 (GRCm39)	I214V	probably benign	Het
Lipc	G	T	9: 70,709,450 (GRCm39)	N432K	probably benign	Het
Lipm	C	T	19: 34,093,598 (GRCm39)	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,756,088 (GRCm39)	S2P	unknown	Het
Lyst	T	A	13: 13,812,109 (GRCm39)	D840E	probably benign	Het
Mmp23	T	A	4: 155,736,041 (GRCm39)	T204S	probably damaging	Het
Mms19	T	C	19: 41,936,717 (GRCm39)	T785A	probably benign	Het
Mov10	A	T	3: 104,707,368 (GRCm39)		probably null	Het
Mtf2	A	G	5: 108,248,836 (GRCm39)	T383A	probably benign	Het
Myo5c	G	A	9: 75,158,809 (GRCm39)		probably null	Het
Nfxl1	A	T	5: 72,681,517 (GRCm39)	C671*	probably null	Het
Npepps	A	G	11: 97,103,982 (GRCm39)	V813A	probably benign	Het
Nrn1	C	A	13: 36,910,825 (GRCm39)	W69L	probably damaging	Het
Oprd1	A	C	4: 131,841,378 (GRCm39)	D193E	probably benign	Het
Or2ag1b	T	A	7: 106,288,417 (GRCm39)	I174F	possibly damaging	Het
Or52p1	C	T	7: 104,267,059 (GRCm39)	H58Y	probably damaging	Het
Or55b3	A	T	7: 102,126,883 (GRCm39)	Y65N	probably damaging	Het
Or56b2j	T	A	7: 104,352,796 (GRCm39)	D7E	probably benign	Het
Or6c202	A	G	10: 128,996,620 (GRCm39)	Y78H	possibly damaging	Het
Or6c209	T	C	10: 129,483,027 (GRCm39)	I10T	probably damaging	Het
Or6k6	A	C	1: 173,944,753 (GRCm39)	F276L	probably benign	Het
Pcdhac1	G	T	18: 37,225,550 (GRCm39)	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,556,313 (GRCm39)	V548M	probably damaging	Het
Pde4c	A	T	8: 71,201,621 (GRCm39)	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,022,086 (GRCm39)	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 115,972,089 (GRCm39)	K780N	probably damaging	Het
Plb1	T	G	5: 32,478,591 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,842,139 (GRCm39)	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,566,540 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,063,826 (GRCm39)	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,246,305 (GRCm39)	A132T	probably damaging	Het
Prl2c2	A	C	13: 13,172,065 (GRCm39)		probably null	Het
Prr14	T	C	7: 127,074,458 (GRCm39)	I330T	probably benign	Het
Pycr1	T	C	11: 120,533,749 (GRCm39)	D36G	probably benign	Het
Rabep2	T	A	7: 126,037,891 (GRCm39)	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469 (GRCm39)	D165G	probably benign	Het
Reln	G	A	5: 22,176,951 (GRCm39)	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,878,188 (GRCm39)	V321A	probably benign	Het
Rnf43	A	G	11: 87,622,678 (GRCm39)	D466G	probably benign	Het
Rpl6	A	T	5: 121,343,655 (GRCm39)	R63W	possibly damaging	Het
S100a14	A	G	3: 90,435,511 (GRCm39)	T102A	probably benign	Het
Samd11	C	A	4: 156,333,857 (GRCm39)	V195L	probably benign	Het
Scaper	G	A	9: 55,669,561 (GRCm39)	Q372*	probably null	Het
Sec14l5	G	T	16: 4,998,739 (GRCm39)	C593F	probably damaging	Het
Sema6d	T	C	2: 124,496,078 (GRCm39)	Y41H	probably damaging	Het
Serac1	G	A	17: 6,119,589 (GRCm39)	R114W	probably damaging	Het
Slc12a4	T	C	8: 106,677,468 (GRCm39)	E388G	probably benign	Het
Smarcd3	T	C	5: 24,800,810 (GRCm39)	T164A	probably benign	Het
Smtn	C	A	11: 3,480,249 (GRCm39)	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,183,175 (GRCm39)	P239L	probably benign	Het
Srcap	T	C	7: 127,137,689 (GRCm39)	V1013A	possibly damaging	Het
Tex35	T	A	1: 156,932,656 (GRCm39)	N52I	probably damaging	Het
Ticrr	T	C	7: 79,343,734 (GRCm39)	S1200P	probably benign	Het
Tmem19	A	G	10: 115,183,604 (GRCm39)	L125P	probably damaging	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Ttn	T	C	2: 76,747,627 (GRCm39)	D4474G	probably benign	Het
Usp43	A	T	11: 67,783,842 (GRCm39)	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,348 (GRCm39)	M234L	probably benign	Het
Wdr93	T	A	7: 79,427,055 (GRCm39)		probably null	Het
Wrap73	T	A	4: 154,240,584 (GRCm39)	W359R	probably damaging	Het
Ywhah	A	G	5: 33,183,985 (GRCm39)	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,288,366 (GRCm39)	P151T	probably damaging	Het
Zfp318	A	G	17: 46,710,995 (GRCm39)	N906S	probably damaging	Het
Zfp423	C	A	8: 88,507,341 (GRCm39)	C1001F	probably damaging	Het
Zmym1	A	G	4: 126,943,191 (GRCm39)	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,353,014 (GRCm39)	G296D	probably benign	Het
Znfx1	T	A	2: 166,890,475 (GRCm39)	I670F	probably damaging	Het

Other mutations in Sv2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01463:Sv2b	APN	7	74,786,203 (GRCm39)	missense	probably damaging	1.00
IGL02302:Sv2b	APN	7	74,773,947 (GRCm39)	missense	probably damaging	0.98
IGL02352:Sv2b	APN	7	74,786,197 (GRCm39)	missense	probably benign	0.01
IGL02359:Sv2b	APN	7	74,786,197 (GRCm39)	missense	probably benign	0.01
IGL02698:Sv2b	APN	7	74,790,726 (GRCm39)	critical splice donor site	probably null
IGL02713:Sv2b	APN	7	74,773,911 (GRCm39)	missense	possibly damaging	0.66
IGL03075:Sv2b	APN	7	74,786,068 (GRCm39)	missense	probably benign
IGL03392:Sv2b	APN	7	74,806,508 (GRCm39)	critical splice acceptor site	probably null
R0015:Sv2b	UTSW	7	74,775,389 (GRCm39)	missense	probably damaging	1.00
R0033:Sv2b	UTSW	7	74,767,489 (GRCm39)	missense	probably benign	0.00
R0033:Sv2b	UTSW	7	74,767,489 (GRCm39)	missense	probably benign	0.00
R0219:Sv2b	UTSW	7	74,807,015 (GRCm39)	critical splice donor site	probably null
R0277:Sv2b	UTSW	7	74,856,187 (GRCm39)	missense	possibly damaging	0.62
R0469:Sv2b	UTSW	7	74,786,140 (GRCm39)	missense	probably benign
R0510:Sv2b	UTSW	7	74,786,140 (GRCm39)	missense	probably benign
R1219:Sv2b	UTSW	7	74,786,160 (GRCm39)	missense	probably benign	0.01
R1307:Sv2b	UTSW	7	74,856,182 (GRCm39)	missense	probably damaging	1.00
R1476:Sv2b	UTSW	7	74,769,791 (GRCm39)	missense	possibly damaging	0.72
R1520:Sv2b	UTSW	7	74,807,077 (GRCm39)	missense	probably damaging	0.98
R1575:Sv2b	UTSW	7	74,797,425 (GRCm39)	missense	probably damaging	0.97
R1585:Sv2b	UTSW	7	74,797,425 (GRCm39)	missense	probably damaging	0.97
R1666:Sv2b	UTSW	7	74,856,089 (GRCm39)	missense	probably benign	0.01
R1712:Sv2b	UTSW	7	74,798,807 (GRCm39)	missense	possibly damaging	0.78
R1864:Sv2b	UTSW	7	74,773,828 (GRCm39)	missense	probably benign	0.17
R1993:Sv2b	UTSW	7	74,856,089 (GRCm39)	missense	probably benign	0.01
R2191:Sv2b	UTSW	7	74,773,836 (GRCm39)	missense	probably damaging	1.00
R3836:Sv2b	UTSW	7	74,807,176 (GRCm39)	missense	probably damaging	1.00
R4744:Sv2b	UTSW	7	74,856,266 (GRCm39)	missense	probably benign	0.01
R4757:Sv2b	UTSW	7	74,773,918 (GRCm39)	missense	probably benign	0.31
R4924:Sv2b	UTSW	7	74,786,169 (GRCm39)	missense	probably benign	0.20
R4990:Sv2b	UTSW	7	74,767,470 (GRCm39)	missense	possibly damaging	0.55
R4991:Sv2b	UTSW	7	74,767,470 (GRCm39)	missense	possibly damaging	0.55
R5038:Sv2b	UTSW	7	74,807,173 (GRCm39)	missense	probably damaging	1.00
R5726:Sv2b	UTSW	7	74,773,962 (GRCm39)	missense	possibly damaging	0.67
R5885:Sv2b	UTSW	7	74,806,501 (GRCm39)	missense	probably damaging	1.00
R6379:Sv2b	UTSW	7	74,786,048 (GRCm39)	missense	possibly damaging	0.73
R6410:Sv2b	UTSW	7	74,789,857 (GRCm39)	missense	probably benign	0.40
R6623:Sv2b	UTSW	7	74,856,132 (GRCm39)	missense	probably damaging	1.00
R6709:Sv2b	UTSW	7	74,773,887 (GRCm39)	missense	probably benign	0.40
R6873:Sv2b	UTSW	7	74,855,954 (GRCm39)	missense	probably damaging	1.00
R6889:Sv2b	UTSW	7	74,775,515 (GRCm39)	splice site	probably null
R7123:Sv2b	UTSW	7	74,767,450 (GRCm39)	missense	possibly damaging	0.94
R7278:Sv2b	UTSW	7	74,797,402 (GRCm39)	missense	probably damaging	0.99
R7363:Sv2b	UTSW	7	74,797,402 (GRCm39)	missense	probably damaging	0.99
R7378:Sv2b	UTSW	7	74,797,476 (GRCm39)	critical splice acceptor site	probably null
R7452:Sv2b	UTSW	7	74,797,461 (GRCm39)	missense	probably damaging	1.00
R7504:Sv2b	UTSW	7	74,786,131 (GRCm39)	missense	probably benign	0.14
R8425:Sv2b	UTSW	7	74,767,347 (GRCm39)	missense	probably damaging	1.00
R8490:Sv2b	UTSW	7	74,855,833 (GRCm39)	splice site	probably null
R8752:Sv2b	UTSW	7	74,855,842 (GRCm39)	missense	possibly damaging	0.85
R8905:Sv2b	UTSW	7	74,767,459 (GRCm39)	missense	probably benign	0.00
R9058:Sv2b	UTSW	7	74,789,822 (GRCm39)	critical splice donor site	probably null
R9075:Sv2b	UTSW	7	74,789,845 (GRCm39)	missense	possibly damaging	0.93
R9114:Sv2b	UTSW	7	74,856,017 (GRCm39)	missense	probably damaging	1.00
R9417:Sv2b	UTSW	7	74,769,772 (GRCm39)	missense	probably damaging	0.99
R9568:Sv2b	UTSW	7	74,775,428 (GRCm39)	missense	probably benign	0.12
R9596:Sv2b	UTSW	7	74,767,462 (GRCm39)	missense	probably damaging	1.00
R9704:Sv2b	UTSW	7	74,797,420 (GRCm39)	missense	possibly damaging	0.48
R9711:Sv2b	UTSW	7	74,856,238 (GRCm39)	missense	probably benign	0.01
R9717:Sv2b	UTSW	7	74,769,676 (GRCm39)	missense	probably benign	0.19
R9731:Sv2b	UTSW	7	74,786,068 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCTCCTTGGTTTAACAGCAG -3'
(R):5'- TGCCCATAAAGAGGGCATC -3'

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

Posted On

2019-10-07