Incidental Mutation 'IGL03173:Syt2'
ID411916
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 #IGL03173
Quality Score
Status
Chromosome1
Chromosomal Location134646677-134762593 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134743579 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 142 (N142D)
Ref Sequence ENSEMBL: ENSMUSP00000140081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121990] [ENSMUST00000187725] [ENSMUST00000188842]
Predicted Effect possibly damaging
Transcript: ENSMUST00000121990
AA Change: N142D

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: N142D

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 noncoding transcript
Transcript: ENSMUST00000187702
Predicted Effect probably benign
Transcript: ENSMUST00000187725
SMART Domains Protein: ENSMUSP00000141156
Gene: ENSMUSG00000026452

DomainStartEndE-ValueType
PDB:4KBB|D 5 63 5e-18 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000188842
AA Change: N142D

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: N142D

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b T C 12: 105,658,294 K649E possibly damaging Het
B230359F08Rik T C 14: 53,796,077 probably benign Het
Cnnm4 A G 1: 36,473,092 probably benign Het
Cntrob C T 11: 69,310,027 A503T possibly damaging Het
D3Ertd751e T A 3: 41,756,062 Y170N probably damaging Het
Ddx23 T C 15: 98,651,004 I306V probably benign Het
Ep400 A G 5: 110,708,871 probably benign Het
Gmps T C 3: 63,990,329 V234A probably damaging Het
Hivep2 G T 10: 14,127,982 G108V possibly damaging Het
Irgc1 T C 7: 24,433,302 E30G probably damaging Het
Krt75 T C 15: 101,572,727 Y204C probably damaging Het
Ms4a14 G A 19: 11,304,196 L333F possibly damaging Het
Olfr1065 A T 2: 86,445,444 C179* probably null Het
Olfr1440 T A 19: 12,395,046 M261K possibly damaging Het
Olfr630 A G 7: 103,754,976 V203A probably benign Het
Pitpnm3 G A 11: 72,092,563 T80I probably benign Het
Pou2f2 T C 7: 25,099,946 probably benign Het
Slc34a1 T C 13: 55,413,276 L518P probably damaging Het
Sorbs1 T A 19: 40,363,262 T235S probably damaging Het
Ssxa1 C T X: 21,118,985 R41C probably benign Het
Taf3 A G 2: 9,952,927 V143A probably damaging Het
Tti1 A G 2: 158,007,012 probably benign Het
Vmn2r13 T C 5: 109,171,779 E445G possibly damaging Het
Zfp663 G T 2: 165,352,499 T600K probably damaging Het
Zfp750 G A 11: 121,513,825 Q75* probably null 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
IGL02524:Syt2 APN 1 134741965 missense probably benign
IGL02611:Syt2 APN 1 134741882 missense possibly damaging 0.90
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 On2016-08-02