Mutagenetix > Incidental Mutation

Incidental Mutation 'R9711:Sv2b'

730163

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2b

Synonyms

A830038F04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74764642-74959010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74856238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 17 (D17E)

Ref Sequence

ENSEMBL: ENSMUSP00000082254 (fasta)

Gene Model

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

AlphaFold

Q8BG39

Predicted Effect

probably benign
Transcript: ENSMUST00000085164
AA Change: D17E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: D17E

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: D17E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: D17E

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: D17E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,275,388 (GRCm39)	D430G	probably damaging	Het
Adgrf1	T	C	17: 43,621,580 (GRCm39)	S606P	possibly damaging	Het
Afap1	A	G	5: 36,141,540 (GRCm39)	N475D	probably damaging	Het
Ahnak2	A	G	12: 112,739,468 (GRCm39)	S1535P	possibly damaging	Het
Akt1	G	T	12: 112,624,885 (GRCm39)	H194N	possibly damaging	Het
Api5	T	A	2: 94,251,812 (GRCm39)	Q396L	possibly damaging	Het
Aplp2	T	C	9: 31,083,303 (GRCm39)	N148S	probably benign	Het
Asb3	A	G	11: 31,031,400 (GRCm39)	Y340C	probably damaging	Het
Bbox1	A	T	2: 110,098,581 (GRCm39)	M332K	probably damaging	Het
Cabin1	A	T	10: 75,579,090 (GRCm39)	S449T	probably benign	Het
Carns1	A	G	19: 4,216,007 (GRCm39)	V725A	possibly damaging	Het
Cdkn1b	A	G	6: 134,898,058 (GRCm39)	K59R	possibly damaging	Het
Cdv3	A	T	9: 103,233,539 (GRCm39)	I212K	probably damaging	Het
Clec14a	T	A	12: 58,314,432 (GRCm39)	I397F	probably damaging	Het
Cnnm1	A	G	19: 43,483,469 (GRCm39)	I950V	possibly damaging	Het
Ddi2	A	G	4: 141,422,734 (GRCm39)	M326T	probably benign	Het
Dhx30	T	C	9: 109,914,103 (GRCm39)	T1065A	probably benign	Het
Eif3c	A	T	7: 126,146,674 (GRCm39)	M808K	possibly damaging	Het
Evi2	G	T	11: 79,406,971 (GRCm39)	H201Q	possibly damaging	Het
Exoc4	A	G	6: 33,452,991 (GRCm39)	T494A	unknown	Het
Fam83f	T	A	15: 80,574,819 (GRCm39)	M242K	probably damaging	Het
Fat4	T	C	3: 39,055,374 (GRCm39)	Y4198H	probably benign	Het
Fcgbp	C	A	7: 27,793,000 (GRCm39)	N1001K	probably benign	Het
Gda	G	T	19: 21,400,449 (GRCm39)	A164E	probably damaging	Het
Gm19410	T	C	8: 36,279,493 (GRCm39)	V1786A	possibly damaging	Het
Gm45871	A	G	18: 90,609,069 (GRCm39)	N82S	probably benign	Het
Gnas	T	A	2: 174,141,392 (GRCm39)	S580T	unknown	Het
Gprin1	G	A	13: 54,886,714 (GRCm39)	P520L	probably benign	Het
Gramd4	C	T	15: 86,014,751 (GRCm39)	R433C	probably damaging	Het
Ighv5-12	T	A	12: 113,665,958 (GRCm39)	T47S	probably benign	Het
Itprid1	T	G	6: 55,864,018 (GRCm39)	S115A	probably damaging	Het
Kdm5a	T	A	6: 120,367,658 (GRCm39)	L451Q	probably damaging	Het
Kif12	T	A	4: 63,084,126 (GRCm39)	R624S	probably benign	Het
Lepr	T	A	4: 101,592,851 (GRCm39)	Y155*	probably null	Het
Lnx2	T	A	5: 146,961,376 (GRCm39)	I519F	probably damaging	Het
Marchf7	T	A	2: 60,060,175 (GRCm39)	S101T	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Morc2a	T	A	11: 3,600,381 (GRCm39)	M1K	probably null	Het
Mtus1	T	C	8: 41,536,222 (GRCm39)	N498S	probably damaging	Het
Mxd1	T	A	6: 86,645,554 (GRCm39)	R46W	probably damaging	Het
Ndufa11	G	C	17: 57,024,843 (GRCm39)	A2P	possibly damaging	Het
Necab2	C	T	8: 120,198,513 (GRCm39)	H362Y	probably damaging	Het
Nphp4	G	A	4: 152,623,434 (GRCm39)	V703I	possibly damaging	Het
Nup54	T	C	5: 92,582,218 (GRCm39)	N31S	unknown	Het
Or13a23-ps1	T	A	7: 140,118,497 (GRCm39)	S22R	probably benign	Het
Or1ad6	T	C	11: 50,860,316 (GRCm39)	L157P	probably damaging	Het
Or1e34	A	T	11: 73,778,696 (GRCm39)	C167*	probably null	Het
Or8b4	A	C	9: 37,830,066 (GRCm39)	T38P	probably damaging	Het
P2rx2	T	C	5: 110,490,388 (GRCm39)	E109G	possibly damaging	Het
Pcdha7	T	C	18: 37,107,409 (GRCm39)	S145P	probably damaging	Het
Pdlim5	A	T	3: 141,948,529 (GRCm39)	V586E	probably damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Plch1	T	A	3: 63,615,176 (GRCm39)	D774V	probably damaging	Het
Plekhg3	A	T	12: 76,611,726 (GRCm39)	D335V	possibly damaging	Het
Pop1	A	G	15: 34,530,227 (GRCm39)	H905R	probably benign	Het
Ppm1k	T	C	6: 57,492,720 (GRCm39)	T189A	probably damaging	Het
Pramel13	A	G	4: 144,122,517 (GRCm39)	L9P	probably damaging	Het
Recql5	A	G	11: 115,784,367 (GRCm39)	V911A	probably damaging	Het
Rnf145	T	A	11: 44,415,830 (GRCm39)	L15*	probably null	Het
Rpl13a	A	G	7: 44,776,673 (GRCm39)	V29A	probably benign	Het
Rps6ka5	A	G	12: 100,540,250 (GRCm39)	V491A	probably benign	Het
Setbp1	T	C	18: 78,900,142 (GRCm39)	H1175R	probably benign	Het
Setd5	T	C	6: 113,093,063 (GRCm39)	S372P	probably damaging	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc36a2	T	C	11: 55,070,169 (GRCm39)	N136S	probably benign	Het
Spag1	G	A	15: 36,190,683 (GRCm39)		probably null	Het
Spon1	A	C	7: 113,387,685 (GRCm39)	T81P	probably damaging	Het
Tasor2	A	G	13: 3,649,667 (GRCm39)	V44A	probably benign	Het
Tax1bp1	C	T	6: 52,704,215 (GRCm39)	T65I	probably damaging	Het
Tenm2	C	A	11: 35,915,341 (GRCm39)	K2065N	probably damaging	Het
Ticam2	T	C	18: 46,693,658 (GRCm39)	D143G	probably damaging	Het
Tmem132d	T	C	5: 127,869,579 (GRCm39)	E585G	possibly damaging	Het
Tnfrsf8	C	T	4: 145,019,668 (GRCm39)		probably null	Het
Trim44	C	T	2: 102,230,813 (GRCm39)	G73R	unknown	Het
Trpc3	C	T	3: 36,692,713 (GRCm39)	D760N	possibly damaging	Het
Tspan9	T	A	6: 127,942,715 (GRCm39)	M171L	probably benign	Het
Ugt2b37	A	G	5: 87,402,532 (GRCm39)	F33S	possibly damaging	Het
Vav2	A	T	2: 27,159,027 (GRCm39)	V734E	probably damaging	Het
Vmn1r214	A	G	13: 23,218,508 (GRCm39)	M1V	probably null	Het
Vmn1r24	A	T	6: 57,932,804 (GRCm39)	V238E	probably damaging	Het
Vmn2r107	A	G	17: 20,577,262 (GRCm39)	Q420R	probably damaging	Het
Vmn2r31	G	A	7: 7,387,085 (GRCm39)	P829S	probably damaging	Het
Xpo6	A	G	7: 125,712,873 (GRCm39)	F703L	probably benign	Het
Zfp442	T	A	2: 150,250,207 (GRCm39)	H565L	possibly damaging	Het
Zfp950	A	T	19: 61,116,000 (GRCm39)	D2E	probably damaging	Het
Zfp992	T	A	4: 146,551,345 (GRCm39)	S355R	probably damaging	Het
Zwilch	A	T	9: 64,063,303 (GRCm39)	F309Y	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
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
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'- AAGACCATCTGCTCTGGAGG -3'
(R):5'- CACAAAAGGCTACTTAGGTTGTC -3'

Sequencing Primer
(F):5'- TCTGGAGGGCGCCATCTTG -3'
(R):5'- TGAAAAAGTCTCATGAGCATGCTC -3'

Posted On

2022-10-06