Incidental Mutation 'R6923:Syt2'
ID 539712
Institutional Source Beutler Lab
Gene Symbol Syt2
Ensembl Gene ENSMUSG00000026452
Gene Name synaptotagmin II
Synonyms
MMRRC Submission 045381-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6923 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134574272-134680887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134674501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 313 (V313A)
Ref Sequence ENSEMBL: ENSMUSP00000140081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121990] [ENSMUST00000187725] [ENSMUST00000188842]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000121990
AA Change: V313A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: V313A

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 possibly damaging
Transcript: ENSMUST00000188842
AA Change: V313A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: V313A

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
Meta Mutation Damage Score 0.5519 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 A G 5: 90,725,652 (GRCm39) N288S probably benign Het
Ap4b1 T A 3: 103,719,530 (GRCm39) D81E probably benign Het
Atg16l1 A T 1: 87,702,078 (GRCm39) probably null Het
Atp11a A G 8: 12,906,949 (GRCm39) T459A probably damaging Het
Bloc1s5 T A 13: 38,815,040 (GRCm39) I40F probably damaging Het
Bltp2 T A 11: 78,165,452 (GRCm39) S1323T possibly damaging Het
Capn5 T A 7: 97,778,461 (GRCm39) Q386L probably damaging Het
Cbfa2t2 C T 2: 154,376,903 (GRCm39) H529Y probably damaging Het
Cd3d T C 9: 44,897,157 (GRCm39) probably benign Het
Cenpa A G 5: 30,829,806 (GRCm39) probably null Het
Chit1 A T 1: 134,077,163 (GRCm39) Y322F probably null Het
Cntnap5c T A 17: 58,399,345 (GRCm39) N399K possibly damaging Het
Dock8 A T 19: 25,072,970 (GRCm39) T417S probably benign Het
Firrm A G 1: 163,814,454 (GRCm39) probably null Het
Fkbp2 A G 19: 6,956,537 (GRCm39) Het
Fsip1 G A 2: 118,080,394 (GRCm39) R121C probably benign Het
Gbp2b T C 3: 142,306,320 (GRCm39) I131T probably benign Het
Gm12695 T C 4: 96,658,053 (GRCm39) N39D probably benign Het
Gm4922 T C 10: 18,659,616 (GRCm39) R369G probably damaging Het
Gpatch3 C T 4: 133,309,836 (GRCm39) L390F probably damaging Het
Gpd2 G A 2: 57,245,800 (GRCm39) M443I probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hdac1-ps A G 17: 78,800,343 (GRCm39) T445A possibly damaging Het
Jph3 A G 8: 122,480,110 (GRCm39) T263A possibly damaging Het
Me3 C A 7: 89,495,093 (GRCm39) A337E probably damaging Het
Mndal A C 1: 173,712,264 (GRCm39) probably null Het
Msantd5l C T 11: 51,144,808 (GRCm39) D158N probably damaging Het
Muc6 C T 7: 141,217,453 (GRCm39) E2342K possibly damaging Het
Neb A G 2: 52,076,076 (GRCm39) V5659A probably damaging Het
Nkapd1 T A 9: 50,521,610 (GRCm39) I104L probably benign Het
Nrxn1 G A 17: 91,395,661 (GRCm39) A165V probably benign Het
Or5b94 T A 19: 12,652,409 (GRCm39) I280N possibly damaging Het
Or5b97 T C 19: 12,878,676 (GRCm39) N156S probably benign Het
Orc2 A G 1: 58,539,534 (GRCm39) L35S probably benign Het
Pax4 A G 6: 28,447,118 (GRCm39) probably null Het
Pcdhb7 C T 18: 37,475,522 (GRCm39) probably null Het
Pla2r1 C T 2: 60,345,310 (GRCm39) E349K probably benign Het
Polr2a C T 11: 69,626,787 (GRCm39) A1516T probably benign Het
Pramel23 A T 4: 143,425,676 (GRCm39) I89N probably benign Het
Prpf38a G T 4: 108,427,401 (GRCm39) D187E possibly damaging Het
Rdh16f1 T A 10: 127,624,737 (GRCm39) probably null Het
S100z T A 13: 95,615,090 (GRCm39) D25V probably damaging Het
Scamp2 T G 9: 57,488,895 (GRCm39) F199V probably damaging Het
Semp2l2b C A 10: 21,943,654 (GRCm39) G109C probably damaging Het
Senp2 T G 16: 21,830,326 (GRCm39) probably benign Het
Sltm T A 9: 70,481,892 (GRCm39) S365T probably damaging Het
Smg6 C G 11: 74,820,169 (GRCm39) P147A possibly damaging Het
Spem2 T A 11: 69,708,603 (GRCm39) R121W probably damaging Het
Sufu A G 19: 46,439,405 (GRCm39) probably null Het
Tet2 C T 3: 133,185,102 (GRCm39) probably null Het
Tfeb T A 17: 48,097,908 (GRCm39) I232N probably benign Het
Ticrr T G 7: 79,341,601 (GRCm39) I1062M probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vrk2 G A 11: 26,439,893 (GRCm39) A226V probably damaging Het
Wnk1 A T 6: 119,942,639 (GRCm39) probably benign Het
Xpo4 G T 14: 57,841,168 (GRCm39) T505K probably benign Het
Yy1 A T 12: 108,759,594 (GRCm39) I86F probably benign Het
Zc3h15 A G 2: 83,487,400 (GRCm39) D73G possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTCCCCTAACTTTGTGCACTAGG -3'
(R):5'- TGTCTGGTTAGCTCAGAGCC -3'

Sequencing Primer
(F):5'- CTTTGTGCACTAGGAGCCTAAAAGTG -3'
(R):5'- TGGTTAGCTCAGAGCCCAAGAAC -3'
Posted On 2018-11-06