Incidental Mutation 'R6816:Syt2'
ID 537311
Institutional Source Beutler Lab
Gene Symbol Syt2
Ensembl Gene ENSMUSG00000026452
Gene Name synaptotagmin II
Synonyms
MMRRC Submission 044928-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6816 (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 A at 134673538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 294 (I294N)
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 damaging
Transcript: ENSMUST00000121990
AA Change: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: I294N

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 damaging
Transcript: ENSMUST00000188842
AA Change: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: I294N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 96% (49/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 95,668,311 (GRCm39) T458A probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Ankrd36 T G 11: 5,593,765 (GRCm39) F457V possibly damaging Het
Cep152 T C 2: 125,436,947 (GRCm39) E531G probably damaging Het
Dpf1 A C 7: 29,011,087 (GRCm39) D162A possibly damaging Het
E2f8 A T 7: 48,525,331 (GRCm39) Y214N possibly damaging Het
Fer1l5 A T 1: 36,445,591 (GRCm39) Y786F possibly damaging Het
Fhod1 G T 8: 106,057,176 (GRCm39) Q933K probably benign Het
Gdap2 T C 3: 100,099,021 (GRCm39) probably null Het
Grin2d A G 7: 45,483,106 (GRCm39) probably benign Het
H2bc22 C T 13: 21,971,947 (GRCm39) S88L probably benign Het
Hgs T A 11: 120,362,397 (GRCm39) V112D probably damaging Het
Igf2r A T 17: 12,932,969 (GRCm39) V851E probably damaging Het
Igfn1 T A 1: 135,887,466 (GRCm39) T2533S probably benign Het
Iqch C T 9: 63,388,041 (GRCm39) V750I probably benign Het
Itih2 A G 2: 10,110,517 (GRCm39) Y525H probably damaging Het
Kcnu1 C T 8: 26,427,762 (GRCm39) Q360* probably null Het
Klk1b26 A G 7: 43,666,292 (GRCm39) N245S probably benign Het
Kmt2c T C 5: 25,610,530 (GRCm39) probably null Het
Lhpp T C 7: 132,235,762 (GRCm39) S116P probably benign Het
Madcam1 A G 10: 79,501,274 (GRCm39) D113G probably damaging Het
Magi3 A T 3: 103,997,227 (GRCm39) probably null Het
Map3k9 A G 12: 81,769,028 (GRCm39) S1007P possibly damaging Het
Mkrn2 C T 6: 115,588,689 (GRCm39) P144L probably damaging Het
Mon1a T C 9: 107,777,609 (GRCm39) S171P probably damaging Het
Nrarp T C 2: 25,071,319 (GRCm39) L66P probably damaging Het
P2ry1 T A 3: 60,911,253 (GRCm39) F131I probably benign Het
Pdzk1 A G 3: 96,761,886 (GRCm39) Q166R probably benign Het
Pigt G T 2: 164,343,052 (GRCm39) V249F probably damaging Het
Ppp1r16b G T 2: 158,603,595 (GRCm39) V407L probably benign Het
Pramel58 A T 5: 94,831,773 (GRCm39) Q260L possibly damaging Het
Rab6a G T 7: 100,279,080 (GRCm39) E73D probably damaging Het
Ralb C A 1: 119,405,712 (GRCm39) G33* probably null Het
Sema3b T A 9: 107,477,549 (GRCm39) M491L probably benign Het
Sema3c A C 5: 17,875,463 (GRCm39) D40A probably benign Het
Slc22a1 T C 17: 12,871,370 (GRCm39) N464D possibly damaging Het
Spire2 T A 8: 124,086,152 (GRCm39) S295T probably benign Het
Stat3 T G 11: 100,802,093 (GRCm39) Q32P probably damaging Het
Sulf2 T C 2: 165,924,674 (GRCm39) T471A probably benign Het
Sult2b1 A G 7: 45,383,102 (GRCm39) W227R probably damaging Het
Taar8b A T 10: 23,968,079 (GRCm39) F38L probably benign Het
Tbl2 T A 5: 135,188,069 (GRCm39) probably null Het
Tex48 G A 4: 63,530,192 (GRCm39) S9L probably damaging Het
Tmprss2 A T 16: 97,369,667 (GRCm39) M369K possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Tspoap1 T C 11: 87,656,491 (GRCm39) V263A probably benign Het
Vmn2r74 T A 7: 85,610,621 (GRCm39) R24* probably null Het
Wdr35 G A 12: 9,077,724 (GRCm39) probably null Het
Zfp202 A G 9: 40,123,109 (GRCm39) R624G 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTTGGAAGCTGGAGACCAC -3'
(R):5'- CTCAGATATGGACAGGCAGGTG -3'

Sequencing Primer
(F):5'- ACCTCTGCTACAGACATGGGAG -3'
(R):5'- GGTTCTGCATCACCTGAAA -3'
Posted On 2018-10-18