Mutagenetix > Incidental Mutation

Incidental Mutation 'R1307:Sv2b'

157829

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2b

Synonyms

A830038F04Rik

MMRRC Submission

039373-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74764642-74959010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74856182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 36 (T36K)

Ref Sequence

ENSEMBL: ENSMUSP00000146049 (fasta)

Gene Model

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

AlphaFold

Q8BG39

Predicted Effect

probably damaging
Transcript: ENSMUST00000085164
AA Change: T36K

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

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: T36K

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: T36K

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

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: T36K

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

noncoding transcript
Transcript: ENSMUST00000206236

Predicted Effect

probably damaging
Transcript: ENSMUST00000206344
AA Change: T36K

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.6%
20x: 91.4%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc1	A	T	10: 59,848,321 (GRCm39)	I83L	probably benign	Het
Bcl2a1b	T	C	9: 89,081,543 (GRCm39)	V44A	probably damaging	Het
Bdp1	T	C	13: 100,186,271 (GRCm39)	D1727G	possibly damaging	Het
Cabp1	A	G	5: 115,310,965 (GRCm39)	F294L	probably damaging	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Gk2	A	T	5: 97,603,268 (GRCm39)	D523E	probably benign	Het
Havcr1	C	T	11: 46,647,097 (GRCm39)	T177I	probably damaging	Het
Kdm4a	T	C	4: 118,032,839 (GRCm39)	T76A	probably benign	Het
Lama4	A	T	10: 38,946,028 (GRCm39)	I804F	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pcdh10	A	G	3: 45,336,314 (GRCm39)	N876S	probably benign	Het
Polr3f	T	C	2: 144,375,113 (GRCm39)	V95A	probably damaging	Het
Ptk2	A	G	15: 73,163,895 (GRCm39)	V389A	probably benign	Het
Rhof	T	C	5: 123,258,378 (GRCm39)	E151G	probably damaging	Het
Slc25a28	T	C	19: 43,655,470 (GRCm39)	N135S	probably benign	Het
Sphk1	G	A	11: 116,426,928 (GRCm39)	V295I	probably benign	Het
Sybu	T	C	15: 44,538,786 (GRCm39)	E291G	probably damaging	Het
Tnc	T	C	4: 63,927,096 (GRCm39)	E810G	probably damaging	Het
Uba52	T	C	8: 70,961,166 (GRCm39)	H68R	probably damaging	Het
Unc79	A	G	12: 103,036,335 (GRCm39)	N552S	probably damaging	Het
Ush2a	T	C	1: 188,090,164 (GRCm39)	C416R	probably damaging	Het
Ush2a	T	C	1: 188,184,037 (GRCm39)	V1447A	probably damaging	Het
Zfp985	C	T	4: 147,667,704 (GRCm39)	L191F	probably benign	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
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
R7426:Sv2b	UTSW	7	74,773,812 (GRCm39)	missense	probably damaging	1.00
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'- GGCCACACTCATCAATGATGGTCTC -3'
(R):5'- AGTTACTCCCAGCACAAGCCTCTG -3'

Sequencing Primer
(F):5'- TCTCATATTGGTGAGCCAGC -3'
(R):5'- CACAAGCCTCTGGGTCATATAAGG -3'

Posted On

2014-02-18