Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Syt2'

678213

Institutional Source

Beutler Lab

Gene Symbol

Syt2

Ensembl Gene

ENSMUSG00000026452

Gene Name

synaptotagmin II

Synonyms

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134574272-134680887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134675391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 414 (V414A)

Ref Sequence

ENSEMBL: ENSMUSP00000112438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121990] [ENSMUST00000188842]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121990
AA Change: V414A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: V414A

Domain	Start	End	E-Value	Type
PDB:4KBB\|D	5	63	7e-16	PDB
transmembrane domain	65	87	N/A	INTRINSIC
low complexity region	124	145	N/A	INTRINSIC
C2	158	260	7.21e-22	SMART
C2	289	403	1.86e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188842
AA Change: V414A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: V414A

Domain	Start	End	E-Value	Type
PDB:4KBB\|D	5	63	7e-16	PDB
transmembrane domain	65	87	N/A	INTRINSIC
low complexity region	124	145	N/A	INTRINSIC
C2	158	260	7.21e-22	SMART
C2	289	403	1.86e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele are viable but sterile, weigh less and show ataxia and altered spontaneous and Ca2+-evoked neurotransmitter release. Mice homozygous for a null allele die at weaning showing growth arrest, motor dysfunction and impaired Ca2+-evoked neurotransmitter release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Hivep3	A	G	4: 119,953,937 (GRCm39)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,065,365 (GRCm39)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,288 (GRCm39)	V152A	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2m12	T	A	16: 19,105,383 (GRCm39)	I37F	probably damaging	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sgsm3	C	T	15: 80,890,796 (GRCm39)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Stpg2	T	A	3: 139,004,170 (GRCm39)	V249E	probably damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	probably benign	Het

Other mutations in Syt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02385:Syt2	APN	1	134,673,553 (GRCm39)	missense	probably benign	0.07
IGL02476:Syt2	APN	1	134,675,369 (GRCm39)	missense	probably benign	0.01
IGL02487:Syt2	APN	1	134,668,603 (GRCm39)	missense	probably damaging	0.99
IGL02524:Syt2	APN	1	134,669,703 (GRCm39)	missense	probably benign
IGL02611:Syt2	APN	1	134,669,620 (GRCm39)	missense	possibly damaging	0.90
IGL03173:Syt2	APN	1	134,671,317 (GRCm39)	missense	possibly damaging	0.81
IGL03303:Syt2	APN	1	134,669,649 (GRCm39)	missense	probably benign	0.44
kringle	UTSW	1	134,675,358 (GRCm39)	missense	probably damaging	1.00
R1661:Syt2	UTSW	1	134,675,358 (GRCm39)	missense	probably damaging	1.00
R1665:Syt2	UTSW	1	134,675,358 (GRCm39)	missense	probably damaging	1.00
R2049:Syt2	UTSW	1	134,674,479 (GRCm39)	splice site	probably benign
R2130:Syt2	UTSW	1	134,674,479 (GRCm39)	splice site	probably benign
R2141:Syt2	UTSW	1	134,674,479 (GRCm39)	splice site	probably benign
R3154:Syt2	UTSW	1	134,669,599 (GRCm39)	missense	possibly damaging	0.95
R5392:Syt2	UTSW	1	134,671,759 (GRCm39)	missense	probably damaging	1.00
R5431:Syt2	UTSW	1	134,668,695 (GRCm39)	missense	probably benign	0.03
R6065:Syt2	UTSW	1	134,675,295 (GRCm39)	missense	probably benign	0.00
R6381:Syt2	UTSW	1	134,674,588 (GRCm39)	missense	probably damaging	1.00
R6816:Syt2	UTSW	1	134,673,538 (GRCm39)	missense	probably damaging	1.00
R6923:Syt2	UTSW	1	134,674,501 (GRCm39)	missense	possibly damaging	0.76
R7002:Syt2	UTSW	1	134,671,842 (GRCm39)	missense	probably damaging	1.00
R7973:Syt2	UTSW	1	134,668,570 (GRCm39)	splice site	probably null
R7994:Syt2	UTSW	1	134,675,330 (GRCm39)	missense	possibly damaging	0.75
R8410:Syt2	UTSW	1	134,674,602 (GRCm39)	missense	possibly damaging	0.66
R9592:Syt2	UTSW	1	134,671,773 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- CTTGCCTTGCAGAAAGTCCAG -3'
(R):5'- CAGCCACCAAAAGGAAGTTG -3'

Sequencing Primer
(F):5'- CTTGCAGAAAGTCCAGGTGGTC -3'
(R):5'- CCAAAAGGAAGTTGGTCTTTAAAAAG -3'

Posted On

2021-08-02