Mutagenetix > Incidental Mutation

Incidental Mutation 'R1864:Sv2b'

208498

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2b

Synonyms

A830038F04Rik

MMRRC Submission

039887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74764642-74959010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74773828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 548 (S548T)

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: S548T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: S548T

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: S548T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: S548T

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: S548T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agtpbp1	A	G	13: 59,598,016 (GRCm39)	Y1198H	possibly damaging	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,055,489 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,508,610 (GRCm39)	N329K	probably benign	Het
Ano4	C	A	10: 88,807,253 (GRCm39)	G741V	probably damaging	Het
Anxa1	T	C	19: 20,357,053 (GRCm39)	D191G	probably benign	Het
Apc2	C	T	10: 80,149,482 (GRCm39)	T1512I	probably damaging	Het
Aph1b	A	T	9: 66,701,395 (GRCm39)	C81S	probably benign	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Arhgef28	A	T	13: 98,130,640 (GRCm39)	H399Q	probably benign	Het
Asic5	A	G	3: 81,919,294 (GRCm39)	E304G	probably benign	Het
B4galnt4	A	G	7: 140,650,446 (GRCm39)	Y771C	probably damaging	Het
Birc2	G	T	9: 7,819,518 (GRCm39)	Q465K	probably benign	Het
Btla	C	T	16: 45,070,737 (GRCm39)	T232I	probably damaging	Het
Ccl7	G	T	11: 81,937,378 (GRCm39)	K37N	probably benign	Het
Cdk17	T	C	10: 93,061,967 (GRCm39)	V233A	probably damaging	Het
Cenatac	A	G	9: 44,329,018 (GRCm39)	C66R	probably damaging	Het
Cilp2	C	A	8: 70,333,973 (GRCm39)	Q1008H	probably damaging	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Clcnka	T	C	4: 141,120,113 (GRCm39)	T269A	probably damaging	Het
Col12a1	A	T	9: 79,534,385 (GRCm39)		probably null	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cyp3a25	T	C	5: 145,931,739 (GRCm39)	D123G	probably damaging	Het
D630003M21Rik	A	T	2: 158,045,105 (GRCm39)	L808Q	probably damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx15	T	C	5: 52,342,043 (GRCm39)	T92A	possibly damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Diaph2	G	A	X: 128,860,876 (GRCm39)	R473Q	probably damaging	Het
Dnd1	A	G	18: 36,899,057 (GRCm39)	C11R	possibly damaging	Het
Dock1	A	C	7: 134,748,236 (GRCm39)	D1566A	probably benign	Het
Drp2	A	G	X: 133,327,864 (GRCm39)	I43V	probably benign	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Ecpas	T	A	4: 58,849,942 (GRCm39)	H427L	possibly damaging	Het
Emilin1	A	G	5: 31,075,934 (GRCm39)	E725G	probably damaging	Het
Eml2	A	G	7: 18,935,803 (GRCm39)	Y487C	probably damaging	Het
Epg5	T	A	18: 78,018,246 (GRCm39)	L919H	probably damaging	Het
Fam187a	T	A	11: 102,776,837 (GRCm39)	S214T	probably damaging	Het
Flna	T	C	X: 73,283,869 (GRCm39)	T521A	probably benign	Het
Foxi1	T	A	11: 34,157,531 (GRCm39)	I165F	probably damaging	Het
Fxr2	A	T	11: 69,543,103 (GRCm39)	K633N	probably benign	Het
Gdpd5	T	C	7: 99,098,206 (GRCm39)	I209T	probably benign	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Grm7	A	T	6: 111,057,384 (GRCm39)	D328V	probably benign	Het
Heatr6	T	C	11: 83,660,056 (GRCm39)	S534P	probably damaging	Het
Heph	A	G	X: 95,573,092 (GRCm39)	T792A	probably damaging	Het
Hipk2	T	A	6: 38,695,870 (GRCm39)		probably null	Het
Hps3	T	A	3: 20,074,123 (GRCm39)		probably null	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Insc	T	C	7: 114,441,413 (GRCm39)	I409T	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Kcnma1	T	A	14: 23,853,230 (GRCm39)	Q108L	probably damaging	Het
Klc3	A	G	7: 19,131,966 (GRCm39)	V137A	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Lgr4	T	A	2: 109,841,742 (GRCm39)	F576I	possibly damaging	Het
Lypd6b	A	G	2: 49,837,459 (GRCm39)	I144V	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Mitf	A	T	6: 97,987,383 (GRCm39)	N159I	probably damaging	Het
Morc1	T	C	16: 48,412,893 (GRCm39)	I678T	probably benign	Het
Muc4	A	G	16: 32,576,625 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,701,463 (GRCm39)	Y2115C	probably damaging	Het
Myof	T	C	19: 37,975,153 (GRCm39)	I182V	probably benign	Het
Ncor1	A	G	11: 62,272,245 (GRCm39)	V635A	probably damaging	Het
Neb	G	T	2: 52,102,772 (GRCm39)	Y4257*	probably null	Het
Npr2	T	A	4: 43,641,258 (GRCm39)	V428E	probably benign	Het
Nufip2	A	G	11: 77,583,124 (GRCm39)	D346G	probably damaging	Het
Obsl1	G	A	1: 75,469,753 (GRCm39)	S1088F	probably benign	Het
Or10s1	T	G	9: 39,986,081 (GRCm39)	I163M	possibly damaging	Het
Or2ag1	T	C	7: 106,313,030 (GRCm39)	N286S	possibly damaging	Het
Or4c127	T	A	2: 89,832,825 (GRCm39)	V25E	probably benign	Het
Or4k38	C	T	2: 111,166,052 (GRCm39)	V124M	possibly damaging	Het
Or5ac22	A	G	16: 59,135,378 (GRCm39)	Y131H	probably damaging	Het
Or8b9	T	A	9: 37,766,560 (GRCm39)	Y149N	probably damaging	Het
Pdgfrb	G	A	18: 61,204,789 (GRCm39)	V550I	probably benign	Het
Pi4ka	A	T	16: 17,185,389 (GRCm39)	L237*	probably null	Het
Pla2r1	G	A	2: 60,259,055 (GRCm39)	T1111M	probably benign	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Pnp	G	C	14: 51,185,430 (GRCm39)	A67P	probably benign	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prom2	T	C	2: 127,381,707 (GRCm39)	D203G	probably benign	Het
Pum1	T	C	4: 130,478,836 (GRCm39)	V486A	possibly damaging	Het
Rnf115	A	G	3: 96,635,153 (GRCm39)		probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rusc2	C	A	4: 43,421,719 (GRCm39)	A713D	possibly damaging	Het
Ryr3	A	T	2: 112,560,673 (GRCm39)	H3009Q	possibly damaging	Het
Serpina1d	C	A	12: 103,734,256 (GRCm39)	C16F	probably benign	Het
Serpinf2	G	T	11: 75,328,309 (GRCm39)	R80S	possibly damaging	Het
Sh2d4a	C	A	8: 68,781,967 (GRCm39)	Q192K	probably benign	Het
Sh3d21	T	A	4: 126,044,729 (GRCm39)		probably null	Het
Sh3rf2	T	A	18: 42,187,046 (GRCm39)	L55Q	probably damaging	Het
Shc4	T	C	2: 125,481,287 (GRCm39)	D255G	probably damaging	Het
Skint2	T	A	4: 112,483,106 (GRCm39)	H170Q	probably benign	Het
Slc29a4	A	G	5: 142,703,509 (GRCm39)	Y261C	probably damaging	Het
Slc35a5	A	T	16: 44,964,071 (GRCm39)	N102K	possibly damaging	Het
Slc38a3	A	T	9: 107,533,152 (GRCm39)	I307K	probably damaging	Het
Tgfbi	T	C	13: 56,780,694 (GRCm39)	S524P	probably benign	Het
Tgm5	T	C	2: 120,905,699 (GRCm39)	D152G	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Trpm1	A	G	7: 63,917,764 (GRCm39)	K1258R	probably damaging	Het
Ttc22	T	C	4: 106,494,003 (GRCm39)	V321A	probably benign	Het
Ube2c	C	A	2: 164,611,943 (GRCm39)	A15E	probably benign	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Umod	A	T	7: 119,062,478 (GRCm39)	L631M	probably damaging	Het
Ush1c	G	A	7: 45,868,816 (GRCm39)	Q373*	probably null	Het
Vmn1r238	T	A	18: 3,123,040 (GRCm39)	R125*	probably null	Het
Wnt8b	T	C	19: 44,482,029 (GRCm39)	L14P	probably benign	Het
Wrn	G	A	8: 33,778,892 (GRCm39)	A563V	probably damaging	Het
Zfp268	A	T	4: 145,348,998 (GRCm39)	Q145L	possibly damaging	Het
Zfp608	A	G	18: 55,030,983 (GRCm39)	S986P	probably benign	Het
Znrf3	T	C	11: 5,233,373 (GRCm39)	H228R	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
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
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'- TGGTTTAACAGCAGCAGATCC -3'
(R):5'- TTGCCCATAAAGAGGGCATCTG -3'

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

Posted On

2014-06-30