Mutagenetix > Incidental Mutations

Incidental Mutation 'R8425:Sv2b'

653410

Institutional Source

Beutler Lab

Gene Symbol

Sv2b

Ensembl Gene

ENSMUSG00000053025

Gene Name

synaptic vesicle glycoprotein 2 b

Synonyms

A830038F04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75114894-75309262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75117599 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 683 (M683T)

Ref Sequence

ENSEMBL: ENSMUSP00000082254 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085164
AA Change: M683T

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

SMART Domains

Protein: ENSMUSP00000082254
Gene: ENSMUSG00000053025
AA Change: M683T

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: M683T

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

SMART Domains

Protein: ENSMUSP00000127245
Gene: ENSMUSG00000053025
AA Change: M683T

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 damaging
Transcript: ENSMUST00000206344
AA Change: M683T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207001

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,347,786	E92G	possibly damaging	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Aasdh	A	T	5: 76,886,277	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,314,623	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,585,377	T788I	probably damaging	Het
Adgrb2	A	G	4: 130,005,057	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,008,407	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,593,654	L257Q	probably benign	Het
Agpat3	A	T	10: 78,282,377	V255E	possibly damaging	Het
Akap6	A	G	12: 52,886,621	I299V	probably benign	Het
Anapc1	A	T	2: 128,669,868	F468L	probably damaging	Het
Apob	T	A	12: 7,988,842	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,628,869	D232E	probably benign	Het
AW209491	A	G	13: 14,637,336	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316	P261L	probably benign	Het
Cap2	T	A	13: 46,609,732	I146K	probably damaging	Het
Catsperb	A	T	12: 101,602,769	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,281,536	V310D	probably damaging	Het
Cenpe	G	T	3: 135,242,627	G1275*	probably null	Het
Chd8	C	T	14: 52,210,555	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,945,957	Y67F	unknown	Het
Cuzd1	G	T	7: 131,317,991	T132K	possibly damaging	Het
Ddr2	T	A	1: 170,036,016		probably benign	Het
Ddx42	T	C	11: 106,247,724	I783T	probably benign	Het
Dennd4a	T	A	9: 64,838,974	D47E	probably damaging	Het
Dirc2	A	T	16: 35,735,597	N164K	probably benign	Het
Dvl2	T	G	11: 70,007,847	W379G	probably damaging	Het
Ehbp1	A	G	11: 22,013,495	L1160P	probably damaging	Het
Eml6	A	G	11: 29,755,008	V1512A	probably benign	Het
Ephb6	T	C	6: 41,618,646	S780P	probably damaging	Het
Exo5	G	A	4: 120,922,363	L102F	probably benign	Het
Fam220a	A	T	5: 143,562,839	K2M	possibly damaging	Het
Fanci	A	T	7: 79,433,541	I731L	probably benign	Het
Gbp8	A	G	5: 105,017,774	S338P	probably damaging	Het
H2-M11	T	C	17: 36,548,757	I214T	probably benign	Het
Hhatl	C	A	9: 121,789,102	A196S	probably benign	Het
Hspg2	C	A	4: 137,550,867	C2988*	probably null	Het
Ifi213	A	G	1: 173,589,860	S329P	probably benign	Het
Lingo3	G	T	10: 80,834,982	F371L	probably benign	Het
Maml2	C	T	9: 13,620,117	T209I		Het
Ndufaf3	T	C	9: 108,566,983		probably benign	Het
Nfatc2	C	T	2: 168,536,296	G483E	probably damaging	Het
Npy6r	A	C	18: 44,276,003	T164P	probably benign	Het
Olfr117	T	A	17: 37,660,084	N83I	probably damaging	Het
Olfr1221	T	A	2: 89,112,393	N40Y	probably damaging	Het
Olfr132	T	C	17: 38,131,036	D52G	possibly damaging	Het
Olfr1502	T	C	19: 13,862,485	S231P	probably benign	Het
Olfr173	A	G	16: 58,797,603	M81T	probably benign	Het
Olfr659	A	G	7: 104,671,295	N198D	probably damaging	Het
Omg	T	C	11: 79,502,000	E344G	possibly damaging	Het
P2rx7	A	G	5: 122,670,458	E301G	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,515	S3569P	probably benign	Het
Pkn3	G	A	2: 30,086,501		probably null	Het
Proc	C	T	18: 32,123,358	V419M	probably damaging	Het
Prss37	C	T	6: 40,516,118	W138*	probably null	Het
Prss52	T	A	14: 64,112,560	L212*	probably null	Het
Rnps1	A	G	17: 24,418,169	K8E	unknown	Het
Rpf2	A	T	10: 40,225,433	L202*	probably null	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Serpinb5	T	A	1: 106,881,785	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
Slfn8	T	A	11: 83,004,615	Q455L	possibly damaging	Het
Tacc3	G	T	5: 33,664,530	L211F	unknown	Het
Tbc1d8	A	G	1: 39,381,409	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,138,851	E493G	unknown	Het
Th	A	T	7: 142,894,086	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,564,357	V115G		Het
Usp40	G	A	1: 87,959,836	R915C	probably benign	Het
Wdr81	T	A	11: 75,451,522	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,314,444	S42P	probably benign	Het
Zfp369	T	A	13: 65,296,675	I544N	possibly damaging	Het

Other mutations in Sv2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01463:Sv2b	APN	7	75136455	missense	probably damaging	1.00
IGL02302:Sv2b	APN	7	75124199	missense	probably damaging	0.98
IGL02352:Sv2b	APN	7	75136449	missense	probably benign	0.01
IGL02359:Sv2b	APN	7	75136449	missense	probably benign	0.01
IGL02698:Sv2b	APN	7	75140978	critical splice donor site	probably null
IGL02713:Sv2b	APN	7	75124163	missense	possibly damaging	0.66
IGL03075:Sv2b	APN	7	75136320	missense	probably benign
IGL03392:Sv2b	APN	7	75156760	critical splice acceptor site	probably null
R0015:Sv2b	UTSW	7	75125641	missense	probably damaging	1.00
R0033:Sv2b	UTSW	7	75117741	missense	probably benign	0.00
R0033:Sv2b	UTSW	7	75117741	missense	probably benign	0.00
R0219:Sv2b	UTSW	7	75157267	critical splice donor site	probably null
R0277:Sv2b	UTSW	7	75206439	missense	possibly damaging	0.62
R0469:Sv2b	UTSW	7	75136392	missense	probably benign
R0510:Sv2b	UTSW	7	75136392	missense	probably benign
R1219:Sv2b	UTSW	7	75136412	missense	probably benign	0.01
R1307:Sv2b	UTSW	7	75206434	missense	probably damaging	1.00
R1476:Sv2b	UTSW	7	75120043	missense	possibly damaging	0.72
R1520:Sv2b	UTSW	7	75157329	missense	probably damaging	0.98
R1575:Sv2b	UTSW	7	75147677	missense	probably damaging	0.97
R1585:Sv2b	UTSW	7	75147677	missense	probably damaging	0.97
R1666:Sv2b	UTSW	7	75206341	missense	probably benign	0.01
R1712:Sv2b	UTSW	7	75149059	missense	possibly damaging	0.78
R1864:Sv2b	UTSW	7	75124080	missense	probably benign	0.17
R1993:Sv2b	UTSW	7	75206341	missense	probably benign	0.01
R2191:Sv2b	UTSW	7	75124088	missense	probably damaging	1.00
R3836:Sv2b	UTSW	7	75157428	missense	probably damaging	1.00
R4744:Sv2b	UTSW	7	75206518	missense	probably benign	0.01
R4757:Sv2b	UTSW	7	75124170	missense	probably benign	0.31
R4924:Sv2b	UTSW	7	75136421	missense	probably benign	0.20
R4990:Sv2b	UTSW	7	75117722	missense	possibly damaging	0.55
R4991:Sv2b	UTSW	7	75117722	missense	possibly damaging	0.55
R5038:Sv2b	UTSW	7	75157425	missense	probably damaging	1.00
R5726:Sv2b	UTSW	7	75124214	missense	possibly damaging	0.67
R5885:Sv2b	UTSW	7	75156753	missense	probably damaging	1.00
R6379:Sv2b	UTSW	7	75136300	missense	possibly damaging	0.73
R6410:Sv2b	UTSW	7	75140109	missense	probably benign	0.40
R6623:Sv2b	UTSW	7	75206384	missense	probably damaging	1.00
R6709:Sv2b	UTSW	7	75124139	missense	probably benign	0.40
R6873:Sv2b	UTSW	7	75206206	missense	probably damaging	1.00
R6889:Sv2b	UTSW	7	75125767	splice site	probably null
R7123:Sv2b	UTSW	7	75117702	missense	possibly damaging	0.94
R7278:Sv2b	UTSW	7	75147654	missense	probably damaging	0.99
R7363:Sv2b	UTSW	7	75147654	missense	probably damaging	0.99
R7378:Sv2b	UTSW	7	75147728	critical splice acceptor site	probably null
R7426:Sv2b	UTSW	7	75124064	missense	probably damaging	1.00
R7452:Sv2b	UTSW	7	75147713	missense	probably damaging	1.00
R7504:Sv2b	UTSW	7	75136383	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGGGATCCCAAGGATGGTTC -3'
(R):5'- TCTTCTTTTGCAGGGCCACG -3'

Sequencing Primer
(F):5'- ATCCCAAGGATGGTTCTGGGC -3'
(R):5'- AAAGTGGTCCCCATCCTT -3'

Posted On

2020-10-20