Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Sv2b'

15327

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2b

Synonyms

A830038F04Rik

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74764642-74959010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74767489 bp (GRCm39)

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]

AlphaFold

Q8BG39

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: 80.0%
3x: 71.7%
10x: 49.2%
20x: 29.7%

Validation Efficiency

96% (74/77)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,140 (GRCm39)	S212P	probably damaging	Het
Ank2	T	A	3: 126,898,397 (GRCm39)		probably benign	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Cpxm2	T	C	7: 131,663,886 (GRCm39)	I346V	possibly damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Nckap5	A	G	1: 125,867,979 (GRCm39)		probably benign	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rarg	T	A	15: 102,147,270 (GRCm39)	I372F	probably damaging	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Zfp420	A	G	7: 29,573,987 (GRCm39)	D69G	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly 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
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
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

Posted On

2012-12-17