Incidental Mutation 'IGL03303:Syt2'
ID416307
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? Possibly non essential (E-score: 0.285) question?
Stock #IGL03303
Quality Score
Status
Chromosome1
Chromosomal Location134646677-134762593 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134741911 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 97 (N97D)
Ref Sequence ENSEMBL: ENSMUSP00000140081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121990] [ENSMUST00000187725] [ENSMUST00000188842]
Predicted Effect probably benign
Transcript: ENSMUST00000121990
AA Change: N97D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: N97D

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: N97D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: N97D

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,870,077 E17G possibly damaging Het
A2m T A 6: 121,667,163 V940E probably damaging Het
Agap1 T A 1: 89,665,152 V307D probably damaging Het
Amd1 A G 10: 40,290,125 V286A possibly damaging Het
Chrne T C 11: 70,615,100 K453R possibly damaging Het
Ckm T A 7: 19,414,338 probably benign Het
Ckmt1 A G 2: 121,360,005 T138A probably benign Het
Cldn4 A G 5: 134,946,249 V166A possibly damaging Het
Dclre1a T C 19: 56,546,766 T129A possibly damaging Het
Dlgap2 T A 8: 14,727,812 D352E probably damaging Het
Dnmt1 A G 9: 20,926,710 I236T probably benign Het
Enam G T 5: 88,504,591 V1320L probably benign Het
Ezh1 A C 11: 101,195,671 probably null Het
F13b A T 1: 139,513,036 D410V possibly damaging Het
Fcrl6 A T 1: 172,597,688 Y259N probably damaging Het
Fpr-rs7 A T 17: 20,113,739 F163Y possibly damaging Het
Gpihbp1 C T 15: 75,597,978 Q181* probably null Het
Htr2b T C 1: 86,099,339 probably benign Het
Igkv1-35 A G 6: 70,011,651 I8T probably benign Het
Kcnq2 T C 2: 181,082,389 T584A probably benign Het
Khdrbs3 A G 15: 69,024,823 T111A probably benign Het
Krtap29-1 A T 11: 99,978,843 C71S probably benign Het
Lrrc4c A T 2: 97,629,592 I188F probably damaging Het
Med1 G T 11: 98,158,352 N539K probably damaging Het
Mga T A 2: 119,903,452 D260E probably damaging Het
Mnd1 A G 3: 84,104,937 I155T probably benign Het
Msrb3 T C 10: 120,784,141 D91G probably benign Het
Mycbp2 A T 14: 103,247,758 D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 probably benign Het
Nrsn2 T C 2: 152,374,211 D24G possibly damaging Het
Olfr1262 A T 2: 90,002,466 K20I possibly damaging Het
Osmr T A 15: 6,842,808 R268S probably benign Het
Pelo C A 13: 115,088,661 V343L probably damaging Het
Rp1 T A 1: 4,344,817 N2024I probably damaging Het
Rps6ka2 C T 17: 7,228,012 Q33* probably null Het
Slfn2 G A 11: 83,069,467 V91I possibly damaging Het
Socs6 G T 18: 88,869,744 A349E probably damaging Het
Tas2r123 T A 6: 132,847,438 H99Q probably damaging Het
Tmc3 A G 7: 83,590,725 probably benign Het
Ube2s A T 7: 4,810,477 V35D probably damaging Het
Usp32 A T 11: 85,022,832 V891D probably damaging Het
Vmn1r169 A T 7: 23,578,009 E275D probably benign Het
Vps13c A G 9: 67,934,504 H1936R probably benign Het
Wrap73 C A 4: 154,146,543 A92E probably damaging Het
Zfhx4 C T 3: 5,403,350 T2856M probably damaging Het
Zmym1 A T 4: 127,049,134 I487N probably damaging 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
IGL03173:Syt2 APN 1 134743579 missense possibly damaging 0.81
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
Posted On2016-08-02