Mutagenetix > Incidental Mutation

Incidental Mutation 'R9009:Sv2a'

685487

Institutional Source

Beutler Lab

Gene Symbol

Sv2a

Ensembl Gene

ENSMUSG00000038486

Gene Name

synaptic vesicle glycoprotein 2a

Synonyms

MMRRC Submission

068839-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96088543-96102499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96094409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 248 (F248S)

Ref Sequence

ENSEMBL: ENSMUSP00000037576 (fasta)

Gene Model

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

AlphaFold

Q9JIS5

Predicted Effect

probably benign
Transcript: ENSMUST00000035371
AA Change: F248S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486
AA Change: F248S

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (58/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,878,279 (GRCm39)		probably benign	Het
Ahctf1	C	T	1: 179,581,171 (GRCm39)	S1677N	probably benign	Het
Ank2	T	C	3: 126,728,025 (GRCm39)		probably benign	Het
Arid3c	A	T	4: 41,729,925 (GRCm39)	I90N	probably benign	Het
Asb1	C	A	1: 91,480,205 (GRCm39)	D301E	unknown	Het
Asb1	T	G	1: 91,480,206 (GRCm39)	*302G	probably null	Het
Birc2	A	T	9: 7,833,937 (GRCm39)	F181L	probably benign	Het
Bnip1	T	A	17: 27,001,590 (GRCm39)		probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd2ap	T	C	17: 43,116,135 (GRCm39)	D575G	possibly damaging	Het
Cdca7	T	A	2: 72,314,273 (GRCm39)	H248Q	probably damaging	Het
Chd2	T	C	7: 73,143,192 (GRCm39)	D567G	probably benign	Het
Chd2	T	C	7: 73,140,402 (GRCm39)	I609V	probably benign	Het
Cnmd	T	A	14: 79,894,085 (GRCm39)	T101S	probably damaging	Het
Col6a4	T	C	9: 105,954,404 (GRCm39)	T312A	probably benign	Het
Cript	C	A	17: 87,338,475 (GRCm39)	T41N	probably damaging	Het
Cts6	T	C	13: 61,344,261 (GRCm39)	I264V	probably benign	Het
Cyp4a32	C	T	4: 115,467,802 (GRCm39)	T262I	probably null	Het
D430041D05Rik	T	A	2: 104,240,521 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,564,712 (GRCm39)	P5S	probably benign	Het
Det1	T	C	7: 78,492,984 (GRCm39)	N340S	probably benign	Het
Dnah7b	A	G	1: 46,262,232 (GRCm39)	N2032D	probably benign	Het
Dscam	T	A	16: 96,840,116 (GRCm39)	T164S	probably benign	Het
Emcn	T	C	3: 137,124,775 (GRCm39)	V196A	possibly damaging	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Gimap3	C	A	6: 48,742,094 (GRCm39)	D279Y	possibly damaging	Het
Gm43302	C	T	5: 105,427,974 (GRCm39)	D196N	probably benign	Het
Gpc6	C	A	14: 117,424,217 (GRCm39)	H102N	possibly damaging	Het
Gpr158	A	T	2: 21,581,760 (GRCm39)	D413V	probably damaging	Het
Ifi207	T	C	1: 173,555,382 (GRCm39)	R767G	probably damaging	Het
Kcnip2	T	C	19: 45,800,634 (GRCm39)		probably benign	Het
Kifap3	A	C	1: 163,696,291 (GRCm39)	D640A	probably damaging	Het
Lmbrd2	A	T	15: 9,157,311 (GRCm39)	Q183L	possibly damaging	Het
Malt1	A	G	18: 65,577,911 (GRCm39)	I135V	probably benign	Het
Mfhas1	T	C	8: 36,057,109 (GRCm39)	V528A	probably damaging	Het
Mllt10	T	C	2: 18,167,163 (GRCm39)	S363P	probably damaging	Het
Mrnip	A	G	11: 50,073,323 (GRCm39)	Y44C	probably damaging	Het
Mstn	C	T	1: 53,103,131 (GRCm39)	Q156*	probably null	Het
Mtmr7	T	C	8: 41,008,904 (GRCm39)	D469G	possibly damaging	Het
Muc6	A	G	7: 141,217,018 (GRCm39)	S2552P	possibly damaging	Het
Myo1f	C	A	17: 33,823,662 (GRCm39)	N1063K	probably benign	Het
Or52k2	T	A	7: 102,253,642 (GRCm39)	I27N	probably benign	Het
Or5af1	A	T	11: 58,722,280 (GRCm39)	Y100F	probably benign	Het
Or6z5	G	A	7: 6,477,399 (GRCm39)	V97M	probably benign	Het
Orai2	A	G	5: 136,179,430 (GRCm39)	V201A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,878 (GRCm39)	T533S	possibly damaging	Het
Pkd1l1	T	A	11: 8,881,552 (GRCm39)	K907N		Het
Plaat5	G	T	19: 7,614,823 (GRCm39)	M228I	probably benign	Het
Ppp1r15a	A	T	7: 45,174,049 (GRCm39)	V253E	probably benign	Het
Ppp1r9b	A	G	11: 94,887,467 (GRCm39)	E493G	probably benign	Het
Prdm1	T	C	10: 44,322,997 (GRCm39)	N151S	probably benign	Het
Prkcd	C	T	14: 30,329,297 (GRCm39)	A163T	probably damaging	Het
Prl7a2	T	A	13: 27,849,994 (GRCm39)	E26V	probably damaging	Het
Ptprm	A	T	17: 66,996,354 (GRCm39)	N1278K	probably damaging	Het
Ptprz1	T	A	6: 23,001,653 (GRCm39)	S1248T	possibly damaging	Het
Scn9a	T	C	2: 66,338,927 (GRCm39)	I1186M	probably damaging	Het
Tas2r116	T	A	6: 132,832,963 (GRCm39)	I188K	probably damaging	Het
Tcf21	T	C	10: 22,693,671 (GRCm39)	T169A	probably benign	Het
Tecrl	C	A	5: 83,432,121 (GRCm39)	C258F	probably damaging	Het
Tet2	T	A	3: 133,193,360 (GRCm39)	E358V	possibly damaging	Het
Thada	A	T	17: 84,759,203 (GRCm39)	S219T	possibly damaging	Het
Tpgs2	T	A	18: 25,301,777 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,744,219 (GRCm39)	I1284F	probably damaging	Het
Vmn1r160	T	C	7: 22,571,127 (GRCm39)	V160A	possibly damaging	Het
Vmn1r44	T	C	6: 89,870,671 (GRCm39)	L139P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTTCAGCCCCTAGAGTTGG -3'
(R):5'- TCACACAGATTTAAGTTGTGCCC -3'

Sequencing Primer
(F):5'- CCCTAGAGTTGGGGCTCTAATAC -3'
(R):5'- TGTGCCCAACATGCCTCAC -3'

Posted On

2021-10-11