Incidental Mutation 'IGL02524:Syt2'
ID296998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt2
Ensembl Gene ENSMUSG00000026452
Gene Namesynaptotagmin II
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL02524
Quality Score
Status
Chromosome1
Chromosomal Location134646677-134762593 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134741965 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 115 (K115E)
Ref Sequence ENSEMBL: ENSMUSP00000140081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121990] [ENSMUST00000187725] [ENSMUST00000188842]
Predicted Effect probably benign
Transcript: ENSMUST00000121990
AA Change: K115E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: K115E

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000187725
SMART Domains Protein: ENSMUSP00000141156
Gene: ENSMUSG00000026452

DomainStartEndE-ValueType
PDB:4KBB|D 5 63 5e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000188842
AA Change: K115E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: K115E

DomainStartEndE-ValueType
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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415O20Rik G A 15: 98,571,125 probably null Het
Abca8a A G 11: 110,078,815 probably benign Het
Acvr1 T C 2: 58,448,307 probably benign Het
Asap3 A T 4: 136,238,616 T453S probably damaging Het
Ccdc110 C T 8: 45,941,942 P290L probably benign Het
Ccdc127 A G 13: 74,352,897 N11S probably damaging Het
Cd80 T C 16: 38,482,683 V164A probably benign Het
Ctnna3 T C 10: 64,260,826 I381T possibly damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Etnppl A G 3: 130,630,671 probably benign Het
Far2 T A 6: 148,150,658 L145Q probably damaging Het
Fdxr A G 11: 115,271,260 probably null Het
Jmy A G 13: 93,472,760 V347A probably damaging Het
Kcns2 A G 15: 34,838,835 I115V probably benign Het
Kif2a A G 13: 106,964,355 L627S possibly damaging Het
Krtap26-1 A G 16: 88,647,479 S85P possibly damaging Het
Ldlr C A 9: 21,733,681 D168E probably damaging Het
Lrrc8e T G 8: 4,235,392 L539R probably damaging Het
Mmp8 A G 9: 7,560,505 E61G probably damaging Het
Msh2 T C 17: 87,678,357 F121L probably benign Het
Myh4 A G 11: 67,249,240 K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 F246S probably benign Het
Nynrin C T 14: 55,871,474 A1346V possibly damaging Het
Olfr1055 A C 2: 86,347,342 C141W probably damaging Het
P2rx1 C T 11: 73,009,648 P196L probably damaging Het
Pbx3 T C 2: 34,370,818 probably benign Het
Psen2 A T 1: 180,245,667 S30T probably benign Het
Rack1 T C 11: 48,803,471 V166A probably benign Het
Rpgrip1 A G 14: 52,121,054 T206A probably benign Het
Rrp7a A G 15: 83,118,178 probably benign Het
Slco1b2 C T 6: 141,671,072 T377I probably benign Het
Sult2a6 A T 7: 14,236,686 S162T possibly damaging Het
Tet1 A G 10: 62,878,646 S457P probably damaging Het
Trbv3 A G 6: 41,048,665 E63G possibly damaging Het
Unc13d T C 11: 116,070,319 Y404C probably damaging Het
Usp32 G A 11: 85,010,011 R1128* probably null Het
Vps4a G A 8: 107,036,751 probably benign Het
Ythdc2 T A 18: 44,847,854 H505Q probably damaging Het
Ywhab T A 2: 164,016,137 L208Q probably damaging Het
Zfyve16 T C 13: 92,504,514 K1241E probably benign Het
Other mutations in Syt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02385:Syt2 APN 1 134745815 missense probably benign 0.07
IGL02476:Syt2 APN 1 134747631 missense probably benign 0.01
IGL02487:Syt2 APN 1 134740865 missense probably damaging 0.99
IGL02611:Syt2 APN 1 134741882 missense possibly damaging 0.90
IGL03173:Syt2 APN 1 134743579 missense possibly damaging 0.81
IGL03303:Syt2 APN 1 134741911 missense probably benign 0.44
kringle UTSW 1 134747620 missense probably damaging 1.00
R1661:Syt2 UTSW 1 134747620 missense probably damaging 1.00
R1665:Syt2 UTSW 1 134747620 missense probably damaging 1.00
R2049:Syt2 UTSW 1 134746741 splice site probably benign
R2130:Syt2 UTSW 1 134746741 splice site probably benign
R2141:Syt2 UTSW 1 134746741 splice site probably benign
R3154:Syt2 UTSW 1 134741861 missense possibly damaging 0.95
R5392:Syt2 UTSW 1 134744021 missense probably damaging 1.00
R5431:Syt2 UTSW 1 134740957 missense probably benign 0.03
R6065:Syt2 UTSW 1 134747557 missense probably benign 0.00
R6381:Syt2 UTSW 1 134746850 missense probably damaging 1.00
R6816:Syt2 UTSW 1 134745800 missense probably damaging 1.00
R6923:Syt2 UTSW 1 134746763 missense possibly damaging 0.76
R7002:Syt2 UTSW 1 134744104 missense probably damaging 1.00
R7973:Syt2 UTSW 1 134740832 splice site probably null
R7994:Syt2 UTSW 1 134747592 missense possibly damaging 0.75
R8410:Syt2 UTSW 1 134746864 missense possibly damaging 0.66
Posted On2015-04-16