Incidental Mutation 'R5792:Sytl2'
ID 447023
Institutional Source Beutler Lab
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 # R5792 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89951460-90059927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90024897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 295 (D295V)
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: D295V

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: D295V

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: D295V

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: D295V

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: D295V

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: D295V

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 damaging
Transcript: ENSMUST00000190837
AA Change: D268V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: D268V

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
Predicted Effect probably damaging
Transcript: ENSMUST00000208720
AA Change: D295V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (56/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,945 (GRCm39) I296F possibly damaging Het
Adamts19 C T 18: 58,970,584 (GRCm39) T56M possibly damaging Het
Axdnd1 T G 1: 156,169,459 (GRCm39) E802D probably damaging Het
Birc6 T C 17: 74,938,048 (GRCm39) V2630A probably benign Het
Capn5 A T 7: 97,780,402 (GRCm39) F323I probably benign Het
Ccn1 T C 3: 145,354,413 (GRCm39) D166G probably benign Het
Cdc25b A G 2: 131,033,679 (GRCm39) E206G probably damaging Het
Cmah T G 13: 24,640,898 (GRCm39) N382K probably benign Het
Col11a1 A T 3: 113,925,242 (GRCm39) D25V probably damaging Het
Cyp2d41-ps G T 15: 82,663,421 (GRCm39) noncoding transcript Het
Cyp3a59 A G 5: 146,036,661 (GRCm39) K288E possibly damaging Het
Dclre1a A C 19: 56,518,022 (GRCm39) I1019S probably damaging Het
Fat2 G T 11: 55,153,151 (GRCm39) A3687D possibly damaging Het
Flg2 T A 3: 93,110,804 (GRCm39) V944E unknown Het
Galntl5 T C 5: 25,403,461 (GRCm39) V177A possibly damaging Het
Gm12695 T C 4: 96,616,520 (GRCm39) T438A probably benign Het
Gm14295 A T 2: 176,502,807 (GRCm39) N766Y probably benign Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm2431 C T 7: 141,812,069 (GRCm39) G8E unknown Het
Gm5435 T A 12: 82,542,200 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grip1 T C 10: 119,821,385 (GRCm39) I350T probably benign Het
Guf1 T A 5: 69,717,829 (GRCm39) F196I probably damaging Het
Kcng4 G T 8: 120,353,018 (GRCm39) D297E probably damaging Het
Khdrbs2 G A 1: 32,511,773 (GRCm39) R246Q probably damaging Het
Layn T C 9: 50,979,461 (GRCm39) E148G probably damaging Het
Lrig3 T A 10: 125,845,788 (GRCm39) V739E probably damaging Het
Lyg1 A G 1: 37,986,348 (GRCm39) W129R probably benign Het
Nup210l C T 3: 90,107,164 (GRCm39) T1567I probably damaging Het
Nus1 T A 10: 52,305,352 (GRCm39) L12* probably null Het
Odad2 T C 18: 7,217,965 (GRCm39) N583S probably benign Het
Or1n2 A G 2: 36,797,113 (GRCm39) I52V probably benign Het
Or6a2 A T 7: 106,600,650 (GRCm39) V139D possibly damaging Het
Otop1 A G 5: 38,455,260 (GRCm39) N218S probably benign Het
Pcif1 T A 2: 164,727,299 (GRCm39) N90K probably damaging Het
Phf2 T C 13: 48,973,518 (GRCm39) probably null Het
Piezo2 T A 18: 63,279,927 (GRCm39) I215F probably damaging Het
Pitpnm2 G T 5: 124,268,384 (GRCm39) C553* probably null Het
Prdm1 A G 10: 44,326,224 (GRCm39) V115A probably damaging Het
Prkdc A G 16: 15,634,616 (GRCm39) D3587G probably damaging Het
Sez6l A T 5: 112,569,890 (GRCm39) Y883* probably null Het
Sh3rf2 A C 18: 42,244,203 (GRCm39) H223P probably damaging Het
Slco1a5 C T 6: 142,187,839 (GRCm39) C500Y probably damaging Het
Slf1 T A 13: 77,214,856 (GRCm39) H610L probably benign Het
Syn3 T C 10: 86,130,492 (GRCm39) *244W probably null Het
Tnfrsf1a T A 6: 125,335,040 (GRCm39) C44S probably damaging Het
Ttc6 T G 12: 57,719,990 (GRCm39) L854V possibly damaging Het
Ttn T C 2: 76,596,602 (GRCm39) I18358V probably benign Het
Vmn2r108 A G 17: 20,683,398 (GRCm39) V602A probably damaging Het
Zap70 A G 1: 36,818,090 (GRCm39) probably benign Het
Zfhx2 T C 14: 55,304,303 (GRCm39) E1227G possibly damaging Het
Znhit3 G A 11: 84,806,910 (GRCm39) probably null Het
Zpbp2 A G 11: 98,442,236 (GRCm39) probably benign Het
Other mutations in Sytl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Sytl2 APN 7 90,022,113 (GRCm39) missense probably benign 0.25
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
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
Predicted Primers PCR Primer
(F):5'- ACAGAGCCTGAAAATGCGTC -3'
(R):5'- AGTAAATTCTCCCACTTCCTGG -3'

Sequencing Primer
(F):5'- GAGCCTGAAAATGCGTCTCATAC -3'
(R):5'- TGGCCAAGGACGGGTCTAG -3'
Posted On 2016-12-15