Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Sv2c'

398566

Institutional Source

Beutler Lab

Gene Symbol

Sv2c

Ensembl Gene

ENSMUSG00000051111

Gene Name

synaptic vesicle glycoprotein 2c

Synonyms

4930527L09Rik

MMRRC Submission

042808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96091102-96269085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96118391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 486 (T486I)

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: T486I

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: T486I

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

possibly damaging
Transcript: ENSMUST00000182289
AA Change: T486I

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: T486I

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

0.4571

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Ankrd24	C	A	10: 81,478,379 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Ezh1	A	G	11: 101,107,819 (GRCm39)		probably null	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or52w1	A	T	7: 105,018,513 (GRCm39)	K327*	probably null	Het
Or8b54	C	T	9: 38,687,252 (GRCm39)	R234W	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setbp1	T	A	18: 78,900,190 (GRCm39)	D1159V	possibly damaging	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,919,118 (GRCm39)	V914E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	probably damaging	Het

Other mutations in Sv2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Sv2c	APN	13	96,184,937 (GRCm39)	missense	probably damaging	1.00
IGL01313:Sv2c	APN	13	96,224,797 (GRCm39)	missense	probably damaging	1.00
IGL02710:Sv2c	APN	13	96,125,649 (GRCm39)	missense	probably damaging	0.99
IGL02990:Sv2c	APN	13	96,224,886 (GRCm39)	missense	probably damaging	1.00
IGL03145:Sv2c	APN	13	96,125,606 (GRCm39)	missense	probably damaging	1.00
D4043:Sv2c	UTSW	13	96,224,989 (GRCm39)	missense	probably benign	0.27
R0390:Sv2c	UTSW	13	96,225,216 (GRCm39)	missense	probably benign
R0849:Sv2c	UTSW	13	96,126,319 (GRCm39)	missense	probably damaging	1.00
R0907:Sv2c	UTSW	13	96,224,763 (GRCm39)	missense	probably damaging	1.00
R1177:Sv2c	UTSW	13	96,126,271 (GRCm39)	missense	possibly damaging	0.79
R1840:Sv2c	UTSW	13	96,118,352 (GRCm39)	missense	probably benign	0.08
R1865:Sv2c	UTSW	13	96,113,283 (GRCm39)	missense	probably benign	0.29
R1959:Sv2c	UTSW	13	96,113,153 (GRCm39)	missense	probably damaging	1.00
R2440:Sv2c	UTSW	13	96,185,084 (GRCm39)	missense	probably damaging	1.00
R4007:Sv2c	UTSW	13	96,123,341 (GRCm39)	splice site	probably benign
R4197:Sv2c	UTSW	13	96,114,636 (GRCm39)	missense	probably damaging	1.00
R4697:Sv2c	UTSW	13	96,122,526 (GRCm39)	missense	possibly damaging	0.64
R4719:Sv2c	UTSW	13	96,123,319 (GRCm39)	missense	probably benign	0.21
R4822:Sv2c	UTSW	13	96,122,457 (GRCm39)	missense	probably damaging	1.00
R5452:Sv2c	UTSW	13	96,114,591 (GRCm39)	missense	probably damaging	1.00
R5531:Sv2c	UTSW	13	96,097,886 (GRCm39)	missense	probably damaging	0.98
R5756:Sv2c	UTSW	13	96,122,475 (GRCm39)	missense	probably benign
R5982:Sv2c	UTSW	13	96,112,571 (GRCm39)	nonsense	probably null
R6220:Sv2c	UTSW	13	96,113,134 (GRCm39)	missense	probably damaging	1.00
R6511:Sv2c	UTSW	13	96,185,033 (GRCm39)	missense	probably benign	0.00
R6520:Sv2c	UTSW	13	96,123,229 (GRCm39)	missense	probably benign
R7001:Sv2c	UTSW	13	96,118,461 (GRCm39)	missense	probably benign	0.11
R7073:Sv2c	UTSW	13	96,224,758 (GRCm39)	missense	probably damaging	1.00
R7116:Sv2c	UTSW	13	96,113,152 (GRCm39)	missense	probably damaging	1.00
R7261:Sv2c	UTSW	13	96,224,809 (GRCm39)	missense	probably damaging	1.00
R7374:Sv2c	UTSW	13	96,125,644 (GRCm39)	missense	probably damaging	1.00
R7423:Sv2c	UTSW	13	96,185,056 (GRCm39)	missense	probably benign	0.03
R7626:Sv2c	UTSW	13	96,122,451 (GRCm39)	missense	probably benign	0.13
R7727:Sv2c	UTSW	13	96,113,203 (GRCm39)	missense	possibly damaging	0.89
R7767:Sv2c	UTSW	13	96,126,223 (GRCm39)	missense	probably damaging	1.00
R7818:Sv2c	UTSW	13	96,123,328 (GRCm39)	nonsense	probably null
R7831:Sv2c	UTSW	13	96,113,200 (GRCm39)	missense	probably damaging	1.00
R7991:Sv2c	UTSW	13	96,224,797 (GRCm39)	missense	probably damaging	1.00
R8137:Sv2c	UTSW	13	96,225,171 (GRCm39)	missense	probably damaging	0.96
R8254:Sv2c	UTSW	13	96,225,073 (GRCm39)	missense	probably damaging	1.00
R9192:Sv2c	UTSW	13	96,224,755 (GRCm39)	missense	probably benign	0.00
R9203:Sv2c	UTSW	13	96,224,745 (GRCm39)	nonsense	probably null
R9278:Sv2c	UTSW	13	96,112,589 (GRCm39)	missense	probably damaging	0.98
R9547:Sv2c	UTSW	13	96,185,008 (GRCm39)	missense	probably benign	0.03
R9585:Sv2c	UTSW	13	96,122,466 (GRCm39)	missense	probably benign
Z1176:Sv2c	UTSW	13	96,112,605 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGTGACTGACAAGTGTGTATC -3'
(R):5'- TTCTGAATATGTAAGGGAGGCCG -3'

Sequencing Primer
(F):5'- ACTGACAAGTGTGTATCTTTAAAGTG -3'
(R):5'- GCCGTGTGCATGCTGTTAC -3'

Posted On

2016-07-06