Mutagenetix > Incidental Mutation

Incidental Mutation 'R6511:Sv2c'

519928

Institutional Source

Beutler Lab

Gene Symbol

Sv2c

Ensembl Gene

ENSMUSG00000051111

Gene Name

synaptic vesicle glycoprotein 2c

Synonyms

4930527L09Rik

MMRRC Submission

044639-MU

Accession Numbers

Genbank: NM_029210; MGI: 1922459

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95954594-96132577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96048525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 215 (V215I)

Ref Sequence

ENSEMBL: ENSMUSP00000138317 (fasta)

Gene Model

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

AlphaFold

Q69ZS6

Predicted Effect

probably benign
Transcript: ENSMUST00000161263
AA Change: V215I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: V215I

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

probably benign
Transcript: ENSMUST00000182289
AA Change: V215I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: V215I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,376,594	H718Y	probably damaging	Het
Abcc8	G	A	7: 46,150,861	T499I	possibly damaging	Het
Azin2	C	A	4: 128,934,466	R316L	probably damaging	Het
Cep85l	C	T	10: 53,278,092	V702I	probably benign	Het
Cfap69	A	T	5: 5,617,220	C442S	probably damaging	Het
Commd3	G	A	2: 18,674,839	G148R	probably benign	Het
Cyfip2	T	C	11: 46,196,308	T1252A	probably benign	Het
Cyp4a30b	A	T	4: 115,456,708	D162V	probably damaging	Het
Exoc3l	G	T	8: 105,293,255	T346K	probably benign	Het
Gas8	T	C	8: 123,524,157	V123A	probably benign	Het
Gm8890	A	G	5: 11,257,308	Y51C	probably benign	Het
Hmcn2	T	G	2: 31,356,342	D774E	possibly damaging	Het
Itga1	G	T	13: 114,992,501	S540R	probably damaging	Het
Itpr2	T	C	6: 146,329,727	N1145S	probably damaging	Het
Kcnc2	C	T	10: 112,462,067		probably benign	Het
Lrp5	G	A	19: 3,652,296	R174W	probably damaging	Het
Lrrn4	T	G	2: 132,870,326	S526R	probably benign	Het
Map3k6	G	A	4: 133,248,078	R708H	probably damaging	Het
Mefv	T	C	16: 3,715,946	T154A	probably benign	Het
Mkl2	T	A	16: 13,379,850	S66R	probably damaging	Het
Mtif2	G	T	11: 29,536,949	A320S	possibly damaging	Het
Nos2	A	G	11: 78,955,464		probably null	Het
Olfr1006	A	G	2: 85,674,840	S104P	possibly damaging	Het
Olfr725	A	G	14: 50,034,809	L198P	probably damaging	Het
Pip5k1c	T	C	10: 81,310,817	Y44H	probably damaging	Het
Ppp1r13b	T	C	12: 111,831,567	E972G	probably damaging	Het
Prdm12	T	C	2: 31,640,309	S71P	probably damaging	Het
Prkag2	G	T	5: 25,100,288		probably benign	Het
Ptprb	T	C	10: 116,346,820	L1467P	probably damaging	Het
Rnf43	G	A	11: 87,732,163	V697I	probably benign	Het
Rpl7	C	A	1: 16,103,665	A12S	probably benign	Het
Slc25a54	T	G	3: 109,094,256	I120S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,788	H370R	probably damaging	Het
Synpo2l	T	C	14: 20,662,450	E34G	probably damaging	Het
Tubgcp5	T	A	7: 55,817,392	C703*	probably null	Het
Vmn1r158	T	C	7: 22,790,691	K31R	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp2	A	T	11: 50,900,407	C270S	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
R5452:Sv2c	UTSW	13	95978083	missense	probably damaging	1.00
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
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
R7831:Sv2c	UTSW	13	95976692	missense	probably damaging	1.00
R7991:Sv2c	UTSW	13	96088289	missense	probably damaging	1.00
R8137:Sv2c	UTSW	13	96088663	missense	probably damaging	0.96
R8254:Sv2c	UTSW	13	96088565	missense	probably damaging	1.00
R9192:Sv2c	UTSW	13	96088247	missense	probably benign	0.00
R9203:Sv2c	UTSW	13	96088237	nonsense	probably null
R9278:Sv2c	UTSW	13	95976081	missense	probably damaging	0.98
R9547:Sv2c	UTSW	13	96048500	missense	probably benign	0.03
R9585:Sv2c	UTSW	13	95985958	missense	probably benign
Z1176:Sv2c	UTSW	13	95976097	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCTTAGGCTGACACAGAAATAG -3'
(R):5'- GTTTCCCTGCGTAAAGTGCTG -3'

Sequencing Primer
(F):5'- AGAGTAAAACTGTGTGCAATCAC -3'
(R):5'- CGTAAAGTGCTGGAGTGTTTCC -3'

Posted On

2018-06-06