Mutagenetix > Incidental Mutation

Incidental Mutation 'R1712:Sv2b'

190671

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2b

Synonyms

A830038F04Rik

MMRRC Submission

039745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74764642-74959010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74798807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 272 (H272Y)

Ref Sequence

ENSEMBL: ENSMUSP00000146049 (fasta)

Gene Model

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

AlphaFold

Q8BG39

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085164
AA Change: H272Y

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: H272Y

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

possibly damaging
Transcript: ENSMUST00000165175
AA Change: H272Y

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: H272Y

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

possibly damaging
Transcript: ENSMUST00000206344
AA Change: H272Y

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,678,448 (GRCm39)	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,748,998 (GRCm39)	R283L	probably benign	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217 (GRCm39)	N351S	probably benign	Het
Ccdc162	T	C	10: 41,415,427 (GRCm39)	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,905,284 (GRCm39)	T1108M	probably benign	Het
Cd47	T	C	16: 49,714,543 (GRCm39)	L184P	probably damaging	Het
Cdc40	T	C	10: 40,717,372 (GRCm39)	K440E	probably damaging	Het
Cenpe	G	A	3: 134,971,694 (GRCm39)	V2262I	probably damaging	Het
Cep290	A	G	10: 100,390,361 (GRCm39)	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,898,172 (GRCm39)	L8F	probably benign	Het
Col17a1	T	C	19: 47,637,442 (GRCm39)		probably benign	Het
Coro6	A	T	11: 77,360,293 (GRCm39)	N421I	probably benign	Het
Cps1	T	C	1: 67,269,440 (GRCm39)	S1480P	probably damaging	Het
Csrnp3	G	T	2: 65,832,826 (GRCm39)	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,287,240 (GRCm39)	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,308,769 (GRCm39)	V1994A	probably benign	Het
Dnah11	T	A	12: 118,160,379 (GRCm39)	N117I	probably benign	Het
Dnajc3	A	G	14: 119,195,307 (GRCm39)	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,390,403 (GRCm39)	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,188,354 (GRCm39)	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,595,862 (GRCm39)	T58A	probably benign	Het
Gjd3	A	G	11: 102,691,706 (GRCm39)	I99T	possibly damaging	Het
Glce	T	C	9: 61,977,857 (GRCm39)	N9S	probably damaging	Het
Gosr1	T	C	11: 76,641,704 (GRCm39)	T125A	possibly damaging	Het
Ifi27l2a	T	A	12: 103,406,202 (GRCm39)		probably null	Het
Jph1	C	T	1: 17,167,456 (GRCm39)	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Klra9	A	T	6: 130,166,659 (GRCm39)		probably null	Het
Kmo	A	T	1: 175,484,289 (GRCm39)	M340L	probably benign	Het
Lama1	T	C	17: 68,024,181 (GRCm39)	I93T	possibly damaging	Het
Limk2	A	T	11: 3,308,104 (GRCm39)		probably null	Het
Mgat5	C	A	1: 127,248,375 (GRCm39)	N92K	probably benign	Het
Mib2	T	A	4: 155,739,256 (GRCm39)	I908F	probably damaging	Het
Mical1	T	G	10: 41,356,359 (GRCm39)	L304R	probably damaging	Het
Mtbp	G	T	15: 55,434,690 (GRCm39)		probably null	Het
Myo3a	T	C	2: 22,455,004 (GRCm39)	Y70H	probably damaging	Het
Neb	T	C	2: 52,133,401 (GRCm39)	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,218,029 (GRCm39)	N378K	probably damaging	Het
Oog4	G	A	4: 143,166,484 (GRCm39)	L107F	probably damaging	Het
Or2g25	A	G	17: 37,970,799 (GRCm39)	S142P	probably benign	Het
Or4k40	T	A	2: 111,251,003 (GRCm39)	M98L	probably benign	Het
Or6x1	A	G	9: 40,099,161 (GRCm39)	Y250C	probably damaging	Het
Or8k20	T	A	2: 86,106,337 (GRCm39)	T165S	probably damaging	Het
Pfdn6	T	C	17: 34,158,528 (GRCm39)	Y82C	probably damaging	Het
Pla2g4d	C	A	2: 120,107,971 (GRCm39)	A313S	possibly damaging	Het
Ptcd3	C	A	6: 71,885,637 (GRCm39)	E30*	probably null	Het
Rai1	A	G	11: 60,078,428 (GRCm39)	T831A	probably benign	Het
Rims1	G	A	1: 22,367,172 (GRCm39)	T1176M	probably damaging	Het
Rin1	A	C	19: 5,105,171 (GRCm39)	I744L	probably benign	Het
Rora	T	A	9: 69,282,771 (GRCm39)	S430T	probably benign	Het
Rsph10b	T	A	5: 143,873,967 (GRCm39)	S23T	probably damaging	Het
Ryr1	T	C	7: 28,746,928 (GRCm39)	N3773S	probably benign	Het
Scn4a	A	G	11: 106,230,180 (GRCm39)	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,236,373 (GRCm39)	G296C	probably benign	Het
Scn7a	T	C	2: 66,535,447 (GRCm39)	T435A	probably benign	Het
Shank2	G	T	7: 143,964,890 (GRCm39)	D833Y	probably damaging	Het
Slc9a2	T	C	1: 40,802,770 (GRCm39)	S607P	possibly damaging	Het
Slx4	G	A	16: 3,809,458 (GRCm39)	R346W	probably damaging	Het
Spata20	A	T	11: 94,371,340 (GRCm39)	C675S	probably benign	Het
Suclg2	A	T	6: 95,563,997 (GRCm39)	I196N	probably damaging	Het
Svep1	T	C	4: 58,070,629 (GRCm39)	I2386V	probably benign	Het
Taf13	A	T	3: 108,488,445 (GRCm39)	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,790,606 (GRCm39)	T976A	probably benign	Het
Tax1bp1	A	G	6: 52,706,311 (GRCm39)	Y104C	probably damaging	Het
Tfeb	T	C	17: 48,099,911 (GRCm39)		probably null	Het
Tlr9	T	C	9: 106,101,248 (GRCm39)	Y180H	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttc12	T	A	9: 49,356,499 (GRCm39)	T510S	probably benign	Het
Ubqln1	T	C	13: 58,339,895 (GRCm39)	E280G	probably damaging	Het
Urm1	T	C	2: 29,731,437 (GRCm39)	W44R	probably damaging	Het
Usp32	A	T	11: 84,933,406 (GRCm39)	I34N	probably benign	Het
Vars1	T	C	17: 35,233,728 (GRCm39)	L1018P	probably damaging	Het
Vcan	A	T	13: 89,869,894 (GRCm39)	V206D	probably damaging	Het
Vim	T	C	2: 13,583,270 (GRCm39)	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,498,997 (GRCm39)	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,604,132 (GRCm39)	N770S	probably damaging	Het
Wdr33	T	A	18: 32,029,684 (GRCm39)	L961Q	unknown	Het
Xylt2	A	G	11: 94,559,575 (GRCm39)	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,694,575 (GRCm39)	N91S	probably damaging	Het
Zc3h6	T	C	2: 128,858,654 (GRCm39)	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	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
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
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'- TTTCTAGTGAGTGGAGGCCCTACAG -3'
(R):5'- CTCGTAACTGAGAAGCTCTGGCAC -3'

Sequencing Primer
(F):5'- TATTCAGGACCTCTGTGAGGAGAC -3'
(R):5'- CAAACAGGGCATCTGCATTTTTTC -3'

Posted On

2014-05-14