Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Sv2a'

305866

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 #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

96088543-96102499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96092723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 141 (R141L)

Ref Sequence

ENSEMBL: ENSMUSP00000037576 (fasta)

Gene Model

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

AlphaFold

Q9JIS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035371
AA Change: R141L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: R141L

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly 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
IGL02220:Sv2a	APN	3	96,098,032 (GRCm39)	missense	probably benign	0.13
IGL02701:Sv2a	APN	3	96,094,447 (GRCm39)	missense	probably damaging	0.99
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