Incidental Mutation 'IGL00516:Sytl2'
ID 5210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sytl2
Ensembl Gene ENSMUSG00000030616
Gene Name synaptotagmin-like 2
Synonyms Slp2-b, Slp2-c, Slp2-d, Slp2, Slp2-a
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.384) question?
Stock # IGL00516
Quality Score
Status
Chromosome 7
Chromosomal Location 89951460-90059927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90022113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 183 (T183A)
Ref Sequence ENSEMBL: ENSMUSP00000147191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107210] [ENSMUST00000107211] [ENSMUST00000190731] [ENSMUST00000190837] [ENSMUST00000207578] [ENSMUST00000208720]
AlphaFold Q99N50
Predicted Effect probably benign
Transcript: ENSMUST00000107210
AA Change: T183A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: T183A

DomainStartEndE-ValueType
Pfam:FYVE_2 5 59 5.5e-9 PFAM
low complexity region 192 205 N/A INTRINSIC
low complexity region 317 328 N/A INTRINSIC
C2 620 725 4.59e-15 SMART
C2 769 872 6.44e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107211
AA Change: T183A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: T183A

DomainStartEndE-ValueType
Pfam:FYVE_2 5 59 5.6e-9 PFAM
low complexity region 192 205 N/A INTRINSIC
low complexity region 317 328 N/A INTRINSIC
low complexity region 592 620 N/A INTRINSIC
C2 644 749 4.59e-15 SMART
C2 793 896 6.44e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190731
AA Change: T183A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: T183A

DomainStartEndE-ValueType
Pfam:FYVE_2 5 59 5.8e-9 PFAM
low complexity region 192 205 N/A INTRINSIC
low complexity region 317 328 N/A INTRINSIC
low complexity region 608 636 N/A INTRINSIC
C2 660 765 4.59e-15 SMART
C2 809 912 6.44e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190837
AA Change: T156A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: T156A

DomainStartEndE-ValueType
Pfam:FYVE_2 5 59 5.6e-9 PFAM
low complexity region 82 93 N/A INTRINSIC
low complexity region 165 178 N/A INTRINSIC
low complexity region 290 301 N/A INTRINSIC
low complexity region 581 609 N/A INTRINSIC
C2 633 738 4.59e-15 SMART
C2 782 885 6.44e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207455
Predicted Effect probably benign
Transcript: ENSMUST00000207578
AA Change: T183A

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000208720
AA Change: T183A

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null allele display abnormal gastric surface mucus cell morphology and reduced basal mucin secretion from gastric cells [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,267,638 (GRCm39) D91G possibly damaging Het
Abcc1 T A 16: 14,231,176 (GRCm39) L438* probably null Het
Asph A T 4: 9,639,322 (GRCm39) N14K probably damaging Het
Baz1b T C 5: 135,245,444 (GRCm39) Y298H probably damaging Het
Ccdc66 A T 14: 27,220,413 (GRCm39) W267R probably damaging Het
Cd81 A C 7: 142,620,901 (GRCm39) K193N probably damaging Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Cflar T C 1: 58,771,469 (GRCm39) I199T probably benign Het
Cmya5 A G 13: 93,234,675 (GRCm39) S138P possibly damaging Het
Cnot1 T C 8: 96,452,707 (GRCm39) N2123S probably damaging Het
Crybg3 A G 16: 59,350,803 (GRCm39) S846P probably benign Het
Cyp2d9 A G 15: 82,339,295 (GRCm39) I21M probably benign Het
Ddx41 T C 13: 55,680,280 (GRCm39) T371A probably damaging Het
Dnhd1 A T 7: 105,306,418 (GRCm39) I425F possibly damaging Het
Dsc1 T C 18: 20,234,943 (GRCm39) D237G probably damaging Het
Emc1 T C 4: 139,082,393 (GRCm39) probably benign Het
Epc1 T A 18: 6,450,515 (GRCm39) D367V probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Helb A G 10: 119,941,329 (GRCm39) V453A probably damaging Het
Hras A G 7: 140,772,783 (GRCm39) I24T possibly damaging Het
Hsf2 A T 10: 57,388,124 (GRCm39) I423L probably benign Het
Igkv2-109 T A 6: 68,280,054 (GRCm39) S92T probably benign Het
Kiss1r G A 10: 79,754,550 (GRCm39) A15T possibly damaging Het
Krt79 T C 15: 101,848,601 (GRCm39) S17G probably damaging Het
Lrrc14b T C 13: 74,509,078 (GRCm39) D443G probably damaging Het
Map4k4 T A 1: 40,053,762 (GRCm39) V953E probably damaging Het
Mybpc2 G A 7: 44,154,829 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,530 (GRCm39) E173G probably damaging Het
Neurl4 C T 11: 69,801,219 (GRCm39) R1199W probably damaging Het
Otog T A 7: 45,900,706 (GRCm39) V333E probably damaging Het
Pdcd2l A T 7: 33,884,246 (GRCm39) probably null Het
Plagl1 A G 10: 13,003,616 (GRCm39) probably benign Het
Rbm34 T C 8: 127,696,736 (GRCm39) N122S probably benign Het
Shank2 A G 7: 143,964,512 (GRCm39) K917E possibly damaging Het
Slc17a8 T C 10: 89,427,157 (GRCm39) K315E possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Tnik T A 3: 28,708,367 (GRCm39) I1067N probably damaging Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trhde A T 10: 114,282,104 (GRCm39) I791N probably benign Het
Ttc28 A T 5: 111,373,554 (GRCm39) N966Y probably damaging Het
Vps13b A T 15: 35,640,703 (GRCm39) D1356V probably damaging Het
Zmym2 A G 14: 57,185,394 (GRCm39) probably benign Het
Other mutations in Sytl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Sytl2 APN 7 90,050,618 (GRCm39) missense probably benign 0.40
IGL00788:Sytl2 APN 7 90,031,906 (GRCm39) intron probably benign
IGL00834:Sytl2 APN 7 90,031,844 (GRCm39) intron probably benign
IGL01833:Sytl2 APN 7 90,045,745 (GRCm39) missense probably damaging 0.99
IGL01866:Sytl2 APN 7 90,031,047 (GRCm39) intron probably benign
IGL02215:Sytl2 APN 7 90,030,422 (GRCm39) intron probably benign
IGL02934:Sytl2 APN 7 90,025,200 (GRCm39) missense probably benign 0.00
IGL03095:Sytl2 APN 7 90,041,642 (GRCm39) missense probably damaging 1.00
finder UTSW 7 90,024,860 (GRCm39) missense probably damaging 1.00
keeper UTSW 7 90,007,432 (GRCm39) nonsense probably null
R0126:Sytl2 UTSW 7 90,045,797 (GRCm39) missense probably damaging 1.00
R0269:Sytl2 UTSW 7 90,052,228 (GRCm39) splice site probably benign
R0270:Sytl2 UTSW 7 90,052,228 (GRCm39) splice site probably benign
R0271:Sytl2 UTSW 7 90,052,228 (GRCm39) splice site probably benign
R0288:Sytl2 UTSW 7 90,052,228 (GRCm39) splice site probably benign
R0528:Sytl2 UTSW 7 90,052,228 (GRCm39) splice site probably benign
R0601:Sytl2 UTSW 7 90,044,374 (GRCm39) missense probably damaging 1.00
R0610:Sytl2 UTSW 7 90,030,061 (GRCm39) intron probably benign
R1634:Sytl2 UTSW 7 90,044,390 (GRCm39) missense probably damaging 1.00
R1777:Sytl2 UTSW 7 90,052,260 (GRCm39) missense probably benign 0.25
R2040:Sytl2 UTSW 7 90,031,069 (GRCm39) intron probably benign
R3788:Sytl2 UTSW 7 90,025,289 (GRCm39) missense probably benign 0.00
R3843:Sytl2 UTSW 7 90,009,367 (GRCm39) missense possibly damaging 0.77
R3952:Sytl2 UTSW 7 90,030,700 (GRCm39) intron probably benign
R4082:Sytl2 UTSW 7 90,057,635 (GRCm39) missense possibly damaging 0.88
R4600:Sytl2 UTSW 7 90,024,977 (GRCm39) missense probably benign 0.11
R4651:Sytl2 UTSW 7 90,024,633 (GRCm39) missense probably damaging 1.00
R4724:Sytl2 UTSW 7 89,998,000 (GRCm39) start codon destroyed probably null 1.00
R4730:Sytl2 UTSW 7 90,030,457 (GRCm39) intron probably benign
R4870:Sytl2 UTSW 7 90,038,106 (GRCm39) missense probably damaging 1.00
R4959:Sytl2 UTSW 7 90,025,245 (GRCm39) missense probably damaging 0.97
R4995:Sytl2 UTSW 7 90,031,465 (GRCm39) intron probably benign
R5009:Sytl2 UTSW 7 90,030,523 (GRCm39) intron probably benign
R5096:Sytl2 UTSW 7 90,025,290 (GRCm39) missense possibly damaging 0.49
R5191:Sytl2 UTSW 7 90,024,860 (GRCm39) missense probably damaging 1.00
R5305:Sytl2 UTSW 7 90,031,071 (GRCm39) intron probably benign
R5538:Sytl2 UTSW 7 90,038,114 (GRCm39) missense probably benign 0.03
R5792:Sytl2 UTSW 7 90,024,897 (GRCm39) missense probably damaging 0.98
R6378:Sytl2 UTSW 7 90,007,432 (GRCm39) nonsense probably null
R6982:Sytl2 UTSW 7 90,045,772 (GRCm39) missense probably damaging 0.96
R7456:Sytl2 UTSW 7 89,998,055 (GRCm39) missense probably damaging 1.00
R7600:Sytl2 UTSW 7 90,025,352 (GRCm39) missense probably benign 0.00
R8127:Sytl2 UTSW 7 90,024,798 (GRCm39) missense possibly damaging 0.93
R8171:Sytl2 UTSW 7 90,058,678 (GRCm39) missense probably damaging 1.00
R8225:Sytl2 UTSW 7 90,024,725 (GRCm39) missense probably benign 0.36
R8297:Sytl2 UTSW 7 90,034,283 (GRCm39) missense probably benign
R8843:Sytl2 UTSW 7 90,025,334 (GRCm39) missense probably benign 0.03
R8929:Sytl2 UTSW 7 90,024,810 (GRCm39) missense probably benign 0.20
R9027:Sytl2 UTSW 7 90,028,748 (GRCm39) missense probably benign 0.00
R9222:Sytl2 UTSW 7 90,050,633 (GRCm39) missense possibly damaging 0.81
R9246:Sytl2 UTSW 7 90,007,384 (GRCm39) missense probably benign 0.31
R9268:Sytl2 UTSW 7 90,034,359 (GRCm39) missense probably benign 0.00
R9399:Sytl2 UTSW 7 90,041,658 (GRCm39) missense probably benign 0.23
R9480:Sytl2 UTSW 7 90,020,718 (GRCm39) missense possibly damaging 0.92
R9573:Sytl2 UTSW 7 90,057,599 (GRCm39) missense probably damaging 1.00
R9583:Sytl2 UTSW 7 90,024,800 (GRCm39) missense probably benign 0.02
Posted On 2012-04-20