Incidental Mutation 'R9776:Syt5'
ID 733700
Institutional Source Beutler Lab
Gene Symbol Syt5
Ensembl Gene ENSMUSG00000004961
Gene Name synaptotagmin V
Synonyms SytIX
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R9776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4542764-4550540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4544831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 274 (L274P)
Ref Sequence ENSEMBL: ENSMUSP00000070322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065957] [ENSMUST00000206023] [ENSMUST00000206933]
AlphaFold Q9R0N5
Predicted Effect probably damaging
Transcript: ENSMUST00000065957
AA Change: L274P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961
AA Change: L274P

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
C2 124 226 2.8e-19 SMART
C2 255 369 4.76e-22 SMART
low complexity region 375 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206023
Predicted Effect probably benign
Transcript: ENSMUST00000206933
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]
PHENOTYPE: About 50% of mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
2010109A12Rik T A 5: 93,361,305 (GRCm39) *120K probably null Het
2700049A03Rik A G 12: 71,235,448 (GRCm39) T1133A possibly damaging Het
A830005F24Rik G A 13: 48,667,758 (GRCm39) R20Q unknown Het
Acta2 T C 19: 34,223,481 (GRCm39) T205A probably benign Het
Adcy5 A G 16: 35,100,725 (GRCm39) D759G probably damaging Het
Ankk1 T A 9: 49,330,714 (GRCm39) M276L probably benign Het
Arfgef2 G A 2: 166,713,447 (GRCm39) E1283K probably damaging Het
Arhgef26 G T 3: 62,246,803 (GRCm39) probably benign Het
Arhgef28 A C 13: 98,133,415 (GRCm39) S351A probably benign Het
Arih2 C T 9: 108,484,504 (GRCm39) G436S probably damaging Het
Bptf T C 11: 106,969,396 (GRCm39) T1013A probably damaging Het
Camsap1 A T 2: 25,828,166 (GRCm39) V1186E probably benign Het
Capn10 G T 1: 92,871,586 (GRCm39) A395S possibly damaging Het
Ccdc184 A T 15: 98,066,737 (GRCm39) T181S probably damaging Het
Clasp1 T C 1: 118,509,108 (GRCm39) I1345T possibly damaging Het
Cpsf1 A T 15: 76,486,779 (GRCm39) H252Q probably damaging Het
Ctnna2 T A 6: 77,582,172 (GRCm39) M363L probably benign Het
Cyp24a1 G A 2: 170,338,625 (GRCm39) P24S probably benign Het
D130040H23Rik A G 8: 69,755,566 (GRCm39) H341R probably damaging Het
Dclk3 A G 9: 111,298,226 (GRCm39) E590G probably damaging Het
Ear2 A T 14: 44,340,729 (GRCm39) Y129F probably benign Het
Egf A G 3: 129,530,514 (GRCm39) L216P probably damaging Het
Fbxw9 T A 8: 85,792,523 (GRCm39) H319Q probably damaging Het
Gipr A G 7: 18,891,487 (GRCm39) S397P probably damaging Het
Gxylt2 G T 6: 100,682,072 (GRCm39) E90* probably null Het
Hnf1b T C 11: 83,784,283 (GRCm39) V473A probably benign Het
Iffo1 G A 6: 125,130,436 (GRCm39) E475K probably damaging Het
Ifi206 T A 1: 173,308,075 (GRCm39) R640S Het
Ipmk A G 10: 71,217,439 (GRCm39) S328G probably damaging Het
Kcnq1 A T 7: 142,737,368 (GRCm39) I229F probably damaging Het
Kif9 C A 9: 110,350,398 (GRCm39) T763N probably benign Het
Klhl36 C T 8: 120,601,129 (GRCm39) Q383* probably null Het
Lrp4 G T 2: 91,316,179 (GRCm39) V766F probably damaging Het
Mettl26 T A 17: 26,094,511 (GRCm39) M3K probably benign Het
Muc16 T A 9: 18,570,675 (GRCm39) I615F unknown Het
Myo7b T A 18: 32,133,068 (GRCm39) Q427L probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Ncapg G A 5: 45,829,834 (GRCm39) V179I probably damaging Het
Nme4 C T 17: 26,314,410 (GRCm39) G6E possibly damaging Het
Nr1h4 T C 10: 89,319,311 (GRCm39) Y185C probably damaging Het
Nt5c3b T C 11: 100,327,012 (GRCm39) I95V probably benign Het
Ntaq1 A G 15: 58,004,913 (GRCm39) T9A probably benign Het
Or2y3 C T 17: 38,393,470 (GRCm39) R133H probably benign Het
Or5g9 A T 2: 85,552,145 (GRCm39) Y132F probably damaging Het
Or5t16 A T 2: 86,819,055 (GRCm39) I155N probably damaging Het
Pappa2 G T 1: 158,611,481 (GRCm39) P1494Q probably damaging Het
Pdzd2 A G 15: 12,457,909 (GRCm39) F144S probably benign Het
Phactr3 A G 2: 177,975,896 (GRCm39) H547R probably damaging Het
Pik3c2b T A 1: 133,018,588 (GRCm39) S1012T possibly damaging Het
Plppr2 G A 9: 21,859,107 (GRCm39) G408D probably damaging Het
Pom121 T A 5: 135,420,554 (GRCm39) N289I unknown Het
Ppa1 T A 10: 61,487,362 (GRCm39) S30T probably damaging Het
Rgs5 A T 1: 169,518,089 (GRCm39) K108* probably null Het
Rpap1 A G 2: 119,607,278 (GRCm39) V287A probably benign Het
Ryr1 A G 7: 28,774,664 (GRCm39) Y2326H probably damaging Het
Ryr2 A G 13: 11,707,599 (GRCm39) S2813P probably damaging Het
Sap25 T C 5: 137,640,702 (GRCm39) probably null Het
Senp5 T C 16: 31,782,279 (GRCm39) Y739C probably damaging Het
Slc25a29 A T 12: 108,793,017 (GRCm39) L187Q possibly damaging Het
Slc7a2 C T 8: 41,358,641 (GRCm39) T328M probably damaging Het
Slc7a8 T C 14: 55,018,759 (GRCm39) N9S probably benign Het
Snx18 A G 13: 113,754,039 (GRCm39) V298A probably benign Het
Spo11 T A 2: 172,833,904 (GRCm39) I342N possibly damaging Het
Ssc5d A G 7: 4,932,367 (GRCm39) K344E probably benign Het
Sspo A T 6: 48,439,269 (GRCm39) D1639V probably benign Het
Stk32b T C 5: 37,617,001 (GRCm39) D285G probably benign Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tas1r2 T C 4: 139,396,208 (GRCm39) S545P possibly damaging Het
Tbc1d17 T G 7: 44,490,696 (GRCm39) D632A probably damaging Het
Tbc1d2 A G 4: 46,650,007 (GRCm39) S10P probably benign Het
Tlk1 A T 2: 70,555,908 (GRCm39) I417N probably damaging Het
Tmem184a C T 5: 139,791,984 (GRCm39) R348H possibly damaging Het
Togaram2 T A 17: 72,023,508 (GRCm39) V808D possibly damaging Het
Tpr A G 1: 150,324,939 (GRCm39) Q2397R probably benign Het
Trav7-4 A G 14: 53,698,994 (GRCm39) D47G possibly damaging Het
Usp17le T A 7: 104,419,814 (GRCm39) M35L probably benign Het
Vegfc C T 8: 54,633,829 (GRCm39) S262L probably benign Het
Vmn2r74 T A 7: 85,605,212 (GRCm39) I479L possibly damaging Het
Vps13a A T 19: 16,736,958 (GRCm39) F126L probably benign Het
Zfp945 C A 17: 23,070,582 (GRCm39) C460F possibly damaging Het
Zmym4 G T 4: 126,804,942 (GRCm39) S439R possibly damaging Het
Zscan4-ps3 A G 7: 11,344,093 (GRCm39) E17G probably damaging Het
Other mutations in Syt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Syt5 APN 7 4,544,156 (GRCm39) missense probably damaging 1.00
IGL02730:Syt5 APN 7 4,545,356 (GRCm39) missense probably damaging 0.99
IGL03345:Syt5 APN 7 4,545,206 (GRCm39) missense probably benign
PIT4495001:Syt5 UTSW 7 4,544,077 (GRCm39) critical splice donor site probably null
R0352:Syt5 UTSW 7 4,544,170 (GRCm39) missense probably benign 0.29
R0479:Syt5 UTSW 7 4,546,108 (GRCm39) missense probably benign
R0512:Syt5 UTSW 7 4,545,813 (GRCm39) missense probably damaging 1.00
R0627:Syt5 UTSW 7 4,548,682 (GRCm39) missense possibly damaging 0.82
R1522:Syt5 UTSW 7 4,543,245 (GRCm39) missense probably damaging 0.97
R1919:Syt5 UTSW 7 4,543,278 (GRCm39) missense probably damaging 1.00
R2191:Syt5 UTSW 7 4,546,088 (GRCm39) nonsense probably null
R5265:Syt5 UTSW 7 4,544,074 (GRCm39) splice site probably null
R5643:Syt5 UTSW 7 4,546,018 (GRCm39) missense probably benign 0.24
R7067:Syt5 UTSW 7 4,546,075 (GRCm39) missense probably benign
R7397:Syt5 UTSW 7 4,545,395 (GRCm39) splice site probably null
R8218:Syt5 UTSW 7 4,545,822 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTGTTCTGAATAGCGTTTG -3'
(R):5'- ATCCCATTTCAAAGCCTGTGGG -3'

Sequencing Primer
(F):5'- GGCACCCGATCTCATTATAGATGG -3'
(R):5'- CTGTGGGCTAGGGGCAG -3'
Posted On 2022-11-14