Mutagenetix > Incidental Mutation

Incidental Mutation 'R2440:Sv2c'

249765

Institutional Source

Beutler Lab

Gene Symbol

Sv2c

Ensembl Gene

ENSMUSG00000051111

Gene Name

synaptic vesicle glycoprotein 2c

Synonyms

4930527L09Rik

Accession Numbers

Essential gene?

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

Stock #

R2440 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96091102-96269085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96185084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 198 (Y198H)

Ref Sequence

ENSEMBL: ENSMUSP00000138317 (fasta)

Gene Model

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

AlphaFold

Q69ZS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000161263
AA Change: Y198H

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

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: Y198H

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 damaging
Transcript: ENSMUST00000182289
AA Change: Y198H

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

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: Y198H

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,129 (GRCm39)	T104A	probably benign	Het
Adar	A	G	3: 89,642,161 (GRCm39)	H14R	possibly damaging	Het
Albfm1	A	G	5: 90,720,548 (GRCm39)		probably null	Het
Alcam	T	A	16: 52,125,976 (GRCm39)	M114L	probably damaging	Het
Ccn4	T	A	15: 66,784,706 (GRCm39)	D126E	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Coch	T	C	12: 51,643,345 (GRCm39)	S122P	probably damaging	Het
Cyp2c69	T	C	19: 39,864,738 (GRCm39)	K247E	probably benign	Het
Gm1527	A	G	3: 28,949,764 (GRCm39)	D8G	probably damaging	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Itga8	G	A	2: 12,183,491 (GRCm39)	T751I	possibly damaging	Het
Kif5a	A	G	10: 127,067,205 (GRCm39)	V904A	probably benign	Het
Lpgat1	A	G	1: 191,492,321 (GRCm39)	E269G	probably benign	Het
Or12j5	T	A	7: 140,083,465 (GRCm39)	K302N	probably benign	Het
Pde4d	A	G	13: 110,063,731 (GRCm39)		probably benign	Het
Rita1	T	C	5: 120,748,004 (GRCm39)	Y98C	probably damaging	Het
Surf1	A	G	2: 26,803,919 (GRCm39)		probably null	Het
Svs3a	T	C	2: 164,131,551 (GRCm39)	F41L	possibly damaging	Het
Tigd2	A	G	6: 59,186,980 (GRCm39)		probably benign	Het
Tubb4a	C	A	17: 57,393,285 (GRCm39)	G38W	probably damaging	Het
Tyrp1	G	A	4: 80,764,843 (GRCm39)	V7I	probably benign	Het
Unc45a	A	G	7: 79,978,805 (GRCm39)	Y615H	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
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
R5237:Sv2c	UTSW	13	96,118,391 (GRCm39)	missense	possibly damaging	0.76
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'- AGCTTCTTAGGCTGACACAG -3'
(R):5'- GCTGACTTTCCACCTGAGAAC -3'

Sequencing Primer
(F):5'- GCTTCTTAGGCTGACACAGAAATAG -3'
(R):5'- GACTTTCCACCTGAGAACTGAGTTC -3'

Posted On

2014-11-12