Incidental Mutation 'IGL03303:Syt2'
ID 416307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt2
Ensembl Gene ENSMUSG00000026452
Gene Name synaptotagmin II
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL03303
Quality Score
Status
Chromosome 1
Chromosomal Location 134574272-134680887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134669649 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
Ezh1 A C 11: 101,086,497 (GRCm39) probably null Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Msrb3 T C 10: 120,620,046 (GRCm39) D91G probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Or4c127 A T 2: 89,832,810 (GRCm39) K20I possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Pelo C A 13: 115,225,197 (GRCm39) V343L probably damaging Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Socs6 G T 18: 88,887,868 (GRCm39) A349E probably damaging Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Ube2s A T 7: 4,813,476 (GRCm39) V35D probably damaging Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N probably damaging Het
Other mutations in Syt2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8902:Syt2 UTSW 1 134,675,391 (GRCm39) missense possibly damaging 0.80
R9592:Syt2 UTSW 1 134,671,773 (GRCm39) missense possibly damaging 0.60
Posted On 2016-08-02