Incidental Mutation 'R5431:Syt2'
ID 428029
Institutional Source Beutler Lab
Gene Symbol Syt2
Ensembl Gene ENSMUSG00000026452
Gene Name synaptotagmin II
Synonyms
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134574272-134680887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134668695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 36 (S36G)
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: S36G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: S36G

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
AA Change: S36G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141156
Gene: ENSMUSG00000026452
AA Change: S36G

DomainStartEndE-ValueType
PDB:4KBB|D 5 63 5e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000188842
AA Change: S36G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: S36G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G 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
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
Predicted Primers PCR Primer
(F):5'- AGCTTCGAAACGCTTCCTG -3'
(R):5'- ATGCCTCTGGGGTGGAAATC -3'

Sequencing Primer
(F):5'- CCTGGTCCTTTGTGCAGAGC -3'
(R):5'- TGGAAATCCAAACTGAGACCC -3'
Posted On 2016-09-01