Incidental Mutation 'IGL02487:Syt2'
ID 295458
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 # IGL02487
Quality Score
Status
Chromosome 1
Chromosomal Location 134574272-134680887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134668603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 5 (F5S)
Ref Sequence ENSEMBL: ENSMUSP00000141156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121990] [ENSMUST00000187725] [ENSMUST00000188842]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000121990
AA Change: F5S
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: F5S

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 damaging
Transcript: ENSMUST00000187725
AA Change: F5S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141156
Gene: ENSMUSG00000026452
AA Change: F5S

DomainStartEndE-ValueType
PDB:4KBB|D 5 63 5e-18 PDB
Predicted Effect unknown
Transcript: ENSMUST00000188842
AA Change: F5S
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: F5S

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T A 11: 54,227,769 (GRCm39) I308N possibly damaging Het
Adal C T 2: 120,985,877 (GRCm39) T204I probably benign Het
Akirin1 A G 4: 123,637,357 (GRCm39) F76S probably benign Het
Arhgef5 A T 6: 43,260,916 (GRCm39) N1447I probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
B230217C12Rik A G 11: 97,733,054 (GRCm39) N125S probably benign Het
Dcaf11 G T 14: 55,806,571 (GRCm39) K457N probably benign Het
Dnah10 G A 5: 124,870,916 (GRCm39) V2348M possibly damaging Het
Eif4g3 T C 4: 137,930,689 (GRCm39) V1665A possibly damaging Het
Fat4 A T 3: 38,941,394 (GRCm39) I96F probably damaging Het
Gm29253 T C 1: 75,149,321 (GRCm39) probably null Het
Gvin-ps6 A G 7: 106,022,471 (GRCm39) noncoding transcript Het
Hnrnpm C A 17: 33,867,787 (GRCm39) G676C probably damaging Het
Iah1 T C 12: 21,371,440 (GRCm39) M185T probably damaging Het
Klc1 A T 12: 111,738,886 (GRCm39) I45F probably damaging Het
Lce1h G A 3: 92,671,048 (GRCm39) P35S unknown Het
Lrrc37a T C 11: 103,386,863 (GRCm39) E2419G unknown Het
Lrrc8c T A 5: 105,754,457 (GRCm39) S77R probably benign Het
Mcm3ap T A 10: 76,343,389 (GRCm39) probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Ntng1 A T 3: 109,842,363 (GRCm39) S137T probably damaging Het
Odf2 C A 2: 29,810,851 (GRCm39) A578E possibly damaging Het
Pecam1 G A 11: 106,562,606 (GRCm39) T698I probably damaging Het
Pex10 A T 4: 155,155,190 (GRCm39) H288L probably damaging Het
Pkhd1l1 T C 15: 44,322,822 (GRCm39) V36A possibly damaging Het
Podxl T C 6: 31,499,957 (GRCm39) *504W probably null Het
Rab42 A G 4: 132,029,614 (GRCm39) S203P probably benign Het
Rsf1 T C 7: 97,288,698 (GRCm39) S192P probably damaging Het
Scap C T 9: 110,207,758 (GRCm39) T489I probably benign Het
Sost C A 11: 101,857,633 (GRCm39) R56L possibly damaging Het
Speer4a3 T A 5: 26,156,605 (GRCm39) I125F probably benign Het
Spmip10 T A 18: 56,727,571 (GRCm39) W90R possibly damaging Het
Sptbn4 A G 7: 27,118,522 (GRCm39) V264A probably damaging Het
Stx3 A G 19: 11,760,469 (GRCm39) V236A probably damaging Het
Thrap3 T C 4: 126,060,794 (GRCm39) D855G possibly damaging Het
Ticrr T C 7: 79,332,769 (GRCm39) V874A possibly damaging Het
Tmem26 A G 10: 68,614,563 (GRCm39) E326G probably benign Het
Tsga13 A T 6: 30,884,362 (GRCm39) Y119N probably damaging Het
Tspoap1 C T 11: 87,653,342 (GRCm39) T136I possibly damaging Het
Ttc21b T C 2: 66,065,500 (GRCm39) T425A probably benign Het
Ttc27 A G 17: 75,163,549 (GRCm39) Y719C probably damaging Het
Usp10 C A 8: 120,675,514 (GRCm39) S511Y probably damaging Het
Vmn1r197 A G 13: 22,512,792 (GRCm39) M238V 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
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
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 2015-04-16