Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Sv2a'

694870

Institutional Source

Beutler Lab

Gene Symbol

Sv2a

Ensembl Gene

ENSMUSG00000038486

Gene Name

synaptic vesicle glycoprotein 2a

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96088543-96102499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96097010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 445 (R445L)

Ref Sequence

ENSEMBL: ENSMUSP00000037576 (fasta)

Gene Model

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

AlphaFold

Q9JIS5

Predicted Effect

probably benign
Transcript: ENSMUST00000035371
AA Change: R445L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: R445L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,396,304 (GRCm39)	S103N	probably benign	Het
Ace	A	G	11: 105,863,299 (GRCm39)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,257,116 (GRCm39)	H115L	probably damaging	Het
Adam15	G	A	3: 89,254,742 (GRCm39)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,883,948 (GRCm39)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,092,481 (GRCm39)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,627,276 (GRCm39)	H225L	probably benign	Het
Aff3	A	G	1: 38,220,397 (GRCm39)	I1171T	probably damaging	Het
Agps	T	A	2: 75,697,182 (GRCm39)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,652,678 (GRCm39)		probably null	Het
Als2cl	G	A	9: 110,718,191 (GRCm39)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,375,813 (GRCm39)	L7H	probably damaging	Het
Apba1	A	T	19: 23,870,782 (GRCm39)	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,244,917 (GRCm39)	E187D	possibly damaging	Het
Ash1l	A	T	3: 88,914,530 (GRCm39)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,575,988 (GRCm39)		probably benign	Het
Bcl7c	G	A	7: 127,307,695 (GRCm39)	A2V	probably damaging	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,774,922 (GRCm39)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,612,512 (GRCm39)	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,173,360 (GRCm39)	N276S	possibly damaging	Het
Cep152	T	C	2: 125,463,127 (GRCm39)	E18G	probably damaging	Het
Cep152	T	C	2: 125,461,803 (GRCm39)	N91S	probably damaging	Het
Cers3	T	C	7: 66,393,442 (GRCm39)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,356,844 (GRCm39)	N489S	possibly damaging	Het
Cramp1	A	G	17: 25,187,920 (GRCm39)	S1225P	probably damaging	Het
Dck	G	A	5: 88,913,166 (GRCm39)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,914 (GRCm39)	E3124D	probably benign	Het
Dync2i2	T	A	2: 29,923,953 (GRCm39)	T191S	probably benign	Het
Eogt	T	G	6: 97,090,839 (GRCm39)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fsip2	T	C	2: 82,812,374 (GRCm39)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,205,249 (GRCm39)	H249R	probably benign	Het
Gbp10	T	G	5: 105,366,861 (GRCm39)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,710,819 (GRCm39)	L167F	probably damaging	Het
Gm14226	A	T	2: 154,866,843 (GRCm39)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,781,642 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,576,402 (GRCm39)	I311F	probably damaging	Het
Heg1	A	G	16: 33,558,961 (GRCm39)	K1085E	probably benign	Het
Hmbs	G	A	9: 44,252,983 (GRCm39)	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,151 (GRCm39)	M28K	probably benign	Het
Ifi27l2a	T	C	12: 103,405,678 (GRCm39)	V141A	possibly damaging	Het
Ift122	T	A	6: 115,867,492 (GRCm39)	I414N	probably damaging	Het
Iglv2	A	T	16: 19,079,434 (GRCm39)	V23E	probably damaging	Het
Itgax	A	T	7: 127,730,641 (GRCm39)	I120L	probably benign	Het
Kifc3	A	G	8: 95,853,317 (GRCm39)	I13T	probably benign	Het
Lmod3	T	C	6: 97,224,625 (GRCm39)	N399D	probably damaging	Het
Macf1	A	T	4: 123,365,326 (GRCm39)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,201,006 (GRCm39)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,141,388 (GRCm39)	E117G	probably damaging	Het
Milr1	A	G	11: 106,652,105 (GRCm39)	H172R	probably benign	Het
Myod1	A	C	7: 46,026,593 (GRCm39)	D166A		Het
Neb	C	T	2: 52,100,878 (GRCm39)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,574,055 (GRCm39)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,330,572 (GRCm39)	V608D	probably benign	Het
Noc3l	G	A	19: 38,800,835 (GRCm39)	Q216*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	T	A	2: 90,552,585 (GRCm39)		probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oat	C	T	7: 132,166,006 (GRCm39)	S193N	probably benign	Het
Oma1	A	G	4: 103,182,214 (GRCm39)		probably null	Het
Or12e13	G	T	2: 87,663,523 (GRCm39)	G47*	probably null	Het
Or1e16	T	A	11: 73,286,853 (GRCm39)		probably benign	Het
Or1j15	T	G	2: 36,458,988 (GRCm39)	F126C	probably benign	Het
Or6c206	A	G	10: 129,097,184 (GRCm39)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,678,482 (GRCm39)	V143A	probably damaging	Het
Os9	A	G	10: 126,933,918 (GRCm39)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,047,660 (GRCm39)	N541I		Het
Pcnx4	A	G	12: 72,613,671 (GRCm39)	I539V	probably benign	Het
Ppfia3	T	A	7: 44,999,717 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,722,098 (GRCm39)	K275E	probably benign	Het
Pten	A	G	19: 32,769,972 (GRCm39)	N63S	probably benign	Het
Rptor	A	G	11: 119,777,896 (GRCm39)	N1020S	probably benign	Het
Sall2	C	A	14: 52,550,673 (GRCm39)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,519,762 (GRCm39)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,027,054 (GRCm39)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,524,750 (GRCm39)	R11L	probably damaging	Het
Skint6	T	A	4: 113,034,173 (GRCm39)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,049,205 (GRCm39)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,253,305 (GRCm39)	K77N	possibly damaging	Het
Smc1b	C	T	15: 84,950,431 (GRCm39)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Stra8	T	C	6: 34,911,016 (GRCm39)	Y215H	probably damaging	Het
Sycp1	A	C	3: 102,758,944 (GRCm39)	L771R	probably damaging	Het
Tchp	A	T	5: 114,859,184 (GRCm39)	R493*	probably null	Het
Ttc13	G	A	8: 125,410,039 (GRCm39)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm39)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm39)	D576G	probably damaging	Het
Xdh	T	C	17: 74,222,688 (GRCm39)	N559S	probably benign	Het
Zscan20	A	T	4: 128,481,914 (GRCm39)	S583T	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GATCCAGTCTGACACAGGAAC -3'
(R):5'- AAGACCTGGAGCATGCAGAC -3'

Sequencing Primer
(F):5'- AACCTGGTACCAGCGCTG -3'
(R):5'- CCTGGAGCATGCAGACAGATAG -3'

Posted On

2022-01-20