Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Sv2c'

354323

Institutional Source

Beutler Lab

Gene Symbol

Sv2c

Ensembl Gene

ENSMUSG00000051111

Gene Name

synaptic vesicle glycoprotein 2c

Synonyms

4930527L09Rik

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

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

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96091102-96269085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96123319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 385 (T385A)

Ref Sequence

ENSEMBL: ENSMUSP00000138317 (fasta)

Gene Model

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

AlphaFold

Q69ZS6

Predicted Effect

probably benign
Transcript: ENSMUST00000161263
AA Change: T385A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: T385A

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

noncoding transcript
Transcript: ENSMUST00000182180

Predicted Effect

probably benign
Transcript: ENSMUST00000182289
AA Change: T385A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: T385A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220740

Meta Mutation Damage Score

0.1485

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Car9	G	A	4: 43,508,616 (GRCm39)	W42*	probably null	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Ces1g	T	C	8: 94,043,718 (GRCm39)	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Col6a4	A	T	9: 105,945,451 (GRCm39)	F888I	probably damaging	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,590,030 (GRCm39)	Q402L	probably damaging	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kcna10	A	G	3: 107,102,217 (GRCm39)	T283A	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Senp1	A	T	15: 97,954,731 (GRCm39)	H484Q	probably benign	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	probably benign	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
R2440:Sv2c	UTSW	13	96,185,084 (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
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'- TTCTGGTCCTAATGCAAGAGAC -3'
(R):5'- GCATCTGTAGATCTCTGCCAG -3'

Sequencing Primer
(F):5'- GTCCTAGATAGAGGGACACTTCC -3'
(R):5'- GCCAGTGTTCTCCTATGTATGAAC -3'

Posted On

2015-10-21