Mutagenetix > Incidental Mutations

Incidental Mutation 'R5452:Sv2c'

432593

Institutional Source

Beutler Lab

Gene Symbol

Sv2c

Ensembl Gene

ENSMUSG00000051111

Gene Name

synaptic vesicle glycoprotein 2c

Synonyms

4930527L09Rik

MMRRC Submission

042848-MU

Accession Numbers

Genbank: NM_029210; MGI: 1922459

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95954594-96132577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95978083 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 532 (F532I)

Ref Sequence

ENSEMBL: ENSMUSP00000138317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161263] [ENSMUST00000182289]

Predicted Effect

probably damaging
Transcript: ENSMUST00000161263
AA Change: F532I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: F532I

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
Pfam:Sugar_tr	117	428	9.1e-31	PFAM
Pfam:MFS_1	154	470	5e-27	PFAM
Pfam:Pentapeptide_4	496	573	4.8e-12	PFAM
Pfam:MFS_1	564	725	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182180

Predicted Effect

probably damaging
Transcript: ENSMUST00000182289
AA Change: F532I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: F532I

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
Pfam:Sugar_tr	119	427	2.2e-30	PFAM
Pfam:MFS_1	154	470	5e-27	PFAM
Pfam:Pentapeptide_4	496	571	6.2e-15	PFAM
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	610	632	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity and increased anxiety-related response. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	A	6: 149,329,113	S1219*	probably null	Het
Adam20	A	T	8: 40,795,764	I304F	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably null	Het
Akr1c6	A	G	13: 4,454,545	R132G	probably benign	Het
Ash1l	T	A	3: 88,984,876	M1354K	possibly damaging	Het
C6	T	C	15: 4,814,829	I911T	possibly damaging	Het
Calm2	T	C	17: 87,435,722		probably null	Het
Ccdc80	G	A	16: 45,118,165	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,844,034	I2685T	possibly damaging	Het
Chkb	T	C	15: 89,429,585		probably benign	Het
Dennd5b	T	A	6: 149,041,513		probably null	Het
Dnah2	T	C	11: 69,524,383	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,192,114	S1154P	probably benign	Het
Ephb4	T	C	5: 137,361,142	S325P	probably damaging	Het
Fzd9	C	T	5: 135,250,860	R57H	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm9949	A	G	18: 62,180,516		probably benign	Het
Gnb4	A	T	3: 32,589,845	M188K	probably benign	Het
Hr	G	T	14: 70,556,627	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,922,316	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,719,587	W88R	probably damaging	Het
Map4	C	T	9: 110,037,783		probably benign	Het
Moxd2	C	T	6: 40,882,114		probably null	Het
Mrgprx1	T	C	7: 48,021,808	I64V	probably benign	Het
Olfr493	A	C	7: 108,346,105	I292S	probably damaging	Het
Padi2	T	C	4: 140,932,071	F229S	probably benign	Het
Pappa2	T	C	1: 158,838,602	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,265,758	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,718,246	Y400H	probably damaging	Het
Plce1	A	C	19: 38,620,482	T412P	probably benign	Het
Prg4	T	C	1: 150,455,768		probably benign	Het
Prkdc	A	G	16: 15,768,637	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,791,168	S107T	probably benign	Het
Rint1	G	T	5: 23,794,365	A51S	probably benign	Het
Rsad1	T	A	11: 94,543,689	R306S	probably damaging	Het
Sema3c	T	G	5: 17,717,070		probably null	Het
Sirt3	G	A	7: 140,865,015	T290I	probably damaging	Het
Skiv2l2	T	C	13: 112,913,181	S232G	probably null	Het
Spam1	G	A	6: 24,800,732	G490D	probably benign	Het
Speer4f2	C	T	5: 17,376,500	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,187,300	I309L	probably benign	Het
Srxn1	G	A	2: 152,105,879	V66M	probably damaging	Het
St3gal4	C	T	9: 35,053,456	R152H	probably damaging	Het
Tacc1	C	A	8: 25,164,415	K705N	probably null	Het
Tekt3	G	T	11: 63,094,793	S475I	probably damaging	Het
Tjap1	T	C	17: 46,260,175	T139A	probably damaging	Het
Tnfrsf8	T	A	4: 145,292,644	K207M	possibly damaging	Het
Tnn	T	C	1: 160,110,261	T965A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,950,971	L448P	probably benign	Het
Ttll4	C	A	1: 74,679,321	N110K	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Ubr1	A	G	2: 120,868,302	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 80,329,039	P621S	probably damaging	Het
Xrn2	A	T	2: 147,024,713		probably null	Het
Zcchc6	A	G	13: 59,800,657	Y215H	probably damaging	Het

Other mutations in Sv2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Sv2c	APN	13	96048429	missense	probably damaging	1.00
IGL01313:Sv2c	APN	13	96088289	missense	probably damaging	1.00
IGL02710:Sv2c	APN	13	95989141	missense	probably damaging	0.99
IGL02990:Sv2c	APN	13	96088378	missense	probably damaging	1.00
IGL03145:Sv2c	APN	13	95989098	missense	probably damaging	1.00
D4043:Sv2c	UTSW	13	96088481	missense	probably benign	0.27
R0390:Sv2c	UTSW	13	96088708	missense	probably benign
R0849:Sv2c	UTSW	13	95989811	missense	probably damaging	1.00
R0907:Sv2c	UTSW	13	96088255	missense	probably damaging	1.00
R1177:Sv2c	UTSW	13	95989763	missense	possibly damaging	0.79
R1840:Sv2c	UTSW	13	95981844	missense	probably benign	0.08
R1865:Sv2c	UTSW	13	95976775	missense	probably benign	0.29
R1959:Sv2c	UTSW	13	95976645	missense	probably damaging	1.00
R2440:Sv2c	UTSW	13	96048576	missense	probably damaging	1.00
R4007:Sv2c	UTSW	13	95986833	splice site	probably benign
R4197:Sv2c	UTSW	13	95978128	missense	probably damaging	1.00
R4697:Sv2c	UTSW	13	95986018	missense	possibly damaging	0.64
R4719:Sv2c	UTSW	13	95986811	missense	probably benign	0.21
R4822:Sv2c	UTSW	13	95985949	missense	probably damaging	1.00
R5237:Sv2c	UTSW	13	95981883	missense	possibly damaging	0.76
R5531:Sv2c	UTSW	13	95961378	missense	probably damaging	0.98
R5756:Sv2c	UTSW	13	95985967	missense	probably benign
R5982:Sv2c	UTSW	13	95976063	nonsense	probably null
R6220:Sv2c	UTSW	13	95976626	missense	probably damaging	1.00
R6511:Sv2c	UTSW	13	96048525	missense	probably benign	0.00
R6520:Sv2c	UTSW	13	95986721	missense	probably benign
R7001:Sv2c	UTSW	13	95981953	missense	probably benign	0.11
R7073:Sv2c	UTSW	13	96088250	missense	probably damaging	1.00
R7116:Sv2c	UTSW	13	95976644	missense	probably damaging	1.00
R7261:Sv2c	UTSW	13	96088301	missense	probably damaging	1.00
R7374:Sv2c	UTSW	13	95989136	missense	probably damaging	1.00
R7423:Sv2c	UTSW	13	96048548	missense	probably benign	0.03
R7626:Sv2c	UTSW	13	95985943	missense	probably benign	0.13
R7727:Sv2c	UTSW	13	95976695	missense	possibly damaging	0.89
R7767:Sv2c	UTSW	13	95989715	missense	probably damaging	1.00
R7818:Sv2c	UTSW	13	95986820	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTTCAAATCAACCAATACAGGG -3'
(R):5'- AGGGTGCTGCATCTCTAAATC -3'

Sequencing Primer
(F):5'- TCAACCAATACAGGGAAATCGTTC -3'
(R):5'- GGGTGCTGCATCTCTAAATCCATTAG -3'

Posted On

2016-10-06