Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Sv2a'

285091

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sv2a

Ensembl Gene

ENSMUSG00000038486

Gene Name

synaptic vesicle glycoprotein 2a

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

96088543-96102499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96098032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 545 (F545S)

Ref Sequence

ENSEMBL: ENSMUSP00000037576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035371]

AlphaFold

Q9JIS5

Predicted Effect

probably benign
Transcript: ENSMUST00000035371
AA Change: F545S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: F545S

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	123	138	N/A	INTRINSIC
Pfam:Sugar_tr	149	484	5.3e-30	PFAM
Pfam:MFS_1	168	483	1.6e-24	PFAM
Pfam:Pentapeptide_4	513	585	7.7e-11	PFAM
Pfam:MFS_1	561	739	3.9e-12	PFAM
Pfam:Sugar_tr	588	742	4.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196912

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,310,395 (GRCm39)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,943,933 (GRCm39)	M1V	probably null	Het
Anks1	T	C	17: 28,273,681 (GRCm39)	I977T	probably damaging	Het
Bcar1	T	C	8: 112,437,839 (GRCm39)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,793,641 (GRCm39)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,392,078 (GRCm39)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,140,903 (GRCm39)	H3148Q	probably damaging	Het
Col6a4	A	G	9: 105,940,141 (GRCm39)	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,166,455 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,067,738 (GRCm39)	G825S	possibly damaging	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Dnah17	G	T	11: 117,963,793 (GRCm39)	Y2506*	probably null	Het
Enam	T	A	5: 88,652,418 (GRCm39)	L1309*	probably null	Het
Fbxo15	G	A	18: 84,982,317 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,828 (GRCm39)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,815,540 (GRCm39)		probably benign	Het
Fuca1	A	G	4: 135,666,530 (GRCm39)		probably benign	Het
Gad1-ps	T	A	10: 99,281,184 (GRCm39)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,544,661 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,578 (GRCm39)	F1168L	probably damaging	Het
Isx	T	A	8: 75,619,333 (GRCm39)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,407,070 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,494,932 (GRCm39)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,736,205 (GRCm39)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,876,083 (GRCm39)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,597,639 (GRCm39)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,597,708 (GRCm39)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,119,923 (GRCm39)		probably benign	Het
Nfkbil1	T	C	17: 35,439,722 (GRCm39)	R264G	possibly damaging	Het
Or4c3d	A	G	2: 89,882,038 (GRCm39)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,542,031 (GRCm39)	A174S	probably benign	Het
Plch1	A	T	3: 63,606,382 (GRCm39)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,035,512 (GRCm39)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,172,131 (GRCm39)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,742 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,680,763 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,908,202 (GRCm39)	T66S	probably benign	Het
Serpina1c	T	A	12: 103,862,338 (GRCm39)	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,030,190 (GRCm39)		probably null	Het
Slc18a2	A	G	19: 59,264,988 (GRCm39)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,950,495 (GRCm39)	M319K	probably damaging	Het
Slc44a5	T	C	3: 153,956,608 (GRCm39)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,441,672 (GRCm39)	E63G	possibly damaging	Het
Svop	T	C	5: 114,203,589 (GRCm39)	D65G	probably benign	Het
Tex30	A	T	1: 44,126,182 (GRCm39)	S182R	probably benign	Het
Tmem121b	T	C	6: 120,469,298 (GRCm39)	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 61,210,941 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,769,679 (GRCm39)	S490P	probably benign	Het
Ubr4	A	G	4: 139,115,746 (GRCm39)	T82A	probably benign	Het
Vps16	A	G	2: 130,283,573 (GRCm39)	D589G	possibly damaging	Het
Zscan29	A	C	2: 120,997,170 (GRCm39)	S184A	probably damaging	Het

Other mutations in Sv2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Sv2a	APN	3	96,100,600 (GRCm39)	missense	probably benign	0.00
IGL01081:Sv2a	APN	3	96,097,012 (GRCm39)	missense	probably benign	0.35
IGL01786:Sv2a	APN	3	96,095,525 (GRCm39)	missense	probably benign	0.08
IGL02701:Sv2a	APN	3	96,094,447 (GRCm39)	missense	probably damaging	0.99
IGL02740:Sv2a	APN	3	96,092,723 (GRCm39)	missense	possibly damaging	0.92
IGL03067:Sv2a	APN	3	96,092,498 (GRCm39)	missense	probably damaging	1.00
R0760:Sv2a	UTSW	3	96,095,498 (GRCm39)	missense	probably damaging	1.00
R2070:Sv2a	UTSW	3	96,101,191 (GRCm39)	missense	possibly damaging	0.95
R2071:Sv2a	UTSW	3	96,101,191 (GRCm39)	missense	possibly damaging	0.95
R2902:Sv2a	UTSW	3	96,101,072 (GRCm39)	missense	possibly damaging	0.84
R3014:Sv2a	UTSW	3	96,096,751 (GRCm39)	nonsense	probably null
R3153:Sv2a	UTSW	3	96,092,574 (GRCm39)	missense	possibly damaging	0.75
R4472:Sv2a	UTSW	3	96,099,810 (GRCm39)	missense	probably benign	0.36
R4653:Sv2a	UTSW	3	96,098,078 (GRCm39)	critical splice donor site	probably null
R4791:Sv2a	UTSW	3	96,099,874 (GRCm39)	missense	possibly damaging	0.68
R4844:Sv2a	UTSW	3	96,095,695 (GRCm39)	missense	probably damaging	1.00
R4919:Sv2a	UTSW	3	96,098,071 (GRCm39)	missense	probably benign	0.44
R5230:Sv2a	UTSW	3	96,092,776 (GRCm39)	missense	probably damaging	1.00
R5305:Sv2a	UTSW	3	96,092,774 (GRCm39)	missense	possibly damaging	0.83
R5656:Sv2a	UTSW	3	96,092,888 (GRCm39)	missense	probably damaging	1.00
R5659:Sv2a	UTSW	3	96,097,619 (GRCm39)	missense	possibly damaging	0.96
R5722:Sv2a	UTSW	3	96,092,339 (GRCm39)	missense	probably benign	0.01
R6299:Sv2a	UTSW	3	96,095,565 (GRCm39)	critical splice donor site	probably null
R6315:Sv2a	UTSW	3	96,095,502 (GRCm39)	missense	probably benign	0.06
R7192:Sv2a	UTSW	3	96,101,062 (GRCm39)	missense	probably damaging	1.00
R7374:Sv2a	UTSW	3	96,095,525 (GRCm39)	missense	probably benign	0.08
R7691:Sv2a	UTSW	3	96,095,727 (GRCm39)	missense	probably benign	0.00
R8795:Sv2a	UTSW	3	96,094,396 (GRCm39)	missense	probably benign	0.00
R9009:Sv2a	UTSW	3	96,094,409 (GRCm39)	missense	probably benign	0.05
R9143:Sv2a	UTSW	3	96,097,983 (GRCm39)	missense	possibly damaging	0.83
R9149:Sv2a	UTSW	3	96,097,010 (GRCm39)	missense	probably benign	0.02
R9335:Sv2a	UTSW	3	96,092,588 (GRCm39)	missense	probably damaging	1.00
R9349:Sv2a	UTSW	3	96,096,795 (GRCm39)	critical splice donor site	probably null
X0026:Sv2a	UTSW	3	96,096,768 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16