Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Sv2c'

595581

Institutional Source

Beutler Lab

Gene Symbol

Sv2c

Ensembl Gene

ENSMUSG00000051111

Gene Name

synaptic vesicle glycoprotein 2c

Synonyms

4930527L09Rik

MMRRC Submission

Accession Numbers

Genbank: NM_029210; MGI: 1922459

Essential gene?

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

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95954594-96132577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95976695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 582 (I582T)

Ref Sequence

ENSEMBL: ENSMUSP00000138317 (fasta)

Gene Model

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

AlphaFold

Q69ZS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161263
AA Change: I582T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: I582T

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

possibly damaging
Transcript: ENSMUST00000182289
AA Change: I582T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: I582T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	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
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
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'- GGGACAAGGTACGAGACTTATTC -3'
(R):5'- TCCTCAAGGAACTAGCAGTGC -3'

Sequencing Primer
(F):5'- ATTCTCTCTAGATCACAGGGGCAG -3'
(R):5'- AACTAGCAGTGCCATGATTTTGG -3'

Posted On

2019-11-12