Incidental Mutation 'R8929:Sytl2'
| ID |
679743 |
| 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 |
| MMRRC Submission |
068773-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8929 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90024810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 266
(A266V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139865
(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: A266V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: A266V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A266V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: A266V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A266V
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: A266V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A239V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: A239V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000207578
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208720
AA Change: A266V
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1085 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
A |
G |
2: 179,814,730 (GRCm39) |
K99E |
unknown |
Het |
| Agxt2 |
C |
A |
15: 10,393,830 (GRCm39) |
L375I |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,258,752 (GRCm39) |
S459P |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,479,203 (GRCm39) |
T1471S |
probably damaging |
Het |
| Atxn2l |
C |
G |
7: 126,092,928 (GRCm39) |
|
probably benign |
Het |
| Azi2 |
C |
A |
9: 117,879,044 (GRCm39) |
T141K |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,422 (GRCm39) |
S369P |
possibly damaging |
Het |
| BC051019 |
C |
T |
7: 109,315,233 (GRCm39) |
E341K |
probably damaging |
Het |
| Bdh1 |
G |
A |
16: 31,275,712 (GRCm39) |
D278N |
probably benign |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,578,825 (GRCm39) |
D205E |
probably damaging |
Het |
| Clec4b1 |
G |
T |
6: 123,046,728 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
C |
17: 72,138,203 (GRCm39) |
L467S |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,298 (GRCm39) |
I154T |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,546,977 (GRCm39) |
N179S |
possibly damaging |
Het |
| Dpf1 |
A |
T |
7: 29,009,174 (GRCm39) |
I100F |
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,165 (GRCm39) |
S46P |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,511,607 (GRCm39) |
D200G |
probably benign |
Het |
| Ern2 |
C |
T |
7: 121,769,363 (GRCm39) |
A888T |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,596,253 (GRCm39) |
S112N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,366 (GRCm39) |
V3462A |
probably damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,138 (GRCm39) |
I733T |
probably damaging |
Het |
| Gdf3 |
C |
T |
6: 122,586,756 (GRCm39) |
R57Q |
|
Het |
| Grwd1 |
A |
T |
7: 45,480,056 (GRCm39) |
D50E |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,798,988 (GRCm39) |
D339Y |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,196,982 (GRCm39) |
D19G |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,765,290 (GRCm39) |
E286G |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,819 (GRCm39) |
F507L |
probably damaging |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,174,643 (GRCm39) |
K247E |
probably benign |
Het |
| Muc4 |
T |
G |
16: 32,575,285 (GRCm39) |
I1290S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,754,017 (GRCm38) |
T1298S |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,644,895 (GRCm39) |
H82Q |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,415,983 (GRCm39) |
E1121V |
probably damaging |
Het |
| Nebl |
C |
A |
2: 17,397,991 (GRCm39) |
E481* |
probably null |
Het |
| Pdap1 |
T |
C |
5: 145,069,672 (GRCm39) |
E111G |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,379 (GRCm39) |
F67S |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,445,654 (GRCm39) |
F510S |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,396 (GRCm39) |
Y524N |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,595,278 (GRCm39) |
M887K |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,803,507 (GRCm39) |
D414G |
possibly damaging |
Het |
| Sema5b |
C |
A |
16: 35,467,737 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,923,164 (GRCm39) |
T252S |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,028,137 (GRCm39) |
F164S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,964 (GRCm39) |
H90R |
unknown |
Het |
| Slc44a4 |
A |
T |
17: 35,136,508 (GRCm39) |
D58V |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,006,617 (GRCm39) |
T340A |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,233,974 (GRCm39) |
N195K |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,035,979 (GRCm39) |
S572P |
possibly damaging |
Het |
| Tbx15 |
T |
A |
3: 99,222,219 (GRCm39) |
D227E |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,882,308 (GRCm39) |
V26A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,208,003 (GRCm39) |
F1749L |
possibly damaging |
Het |
| Trpc6 |
A |
G |
9: 8,643,411 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,706,924 (GRCm39) |
I9089N |
unknown |
Het |
| Tut7 |
A |
G |
13: 59,947,942 (GRCm39) |
V793A |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,103,835 (GRCm39) |
T866A |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,494 (GRCm39) |
S280C |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,541 (GRCm39) |
T847A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 30,000,881 (GRCm39) |
L180P |
probably damaging |
Het |
| Zfp445 |
T |
G |
9: 122,682,732 (GRCm39) |
Y403S |
probably benign |
Het |
|
| Other mutations in Sytl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TATGCCACGTCAGCAGTTAGAG -3'
(R):5'- CTCATTCTTCACGGCAGAGAATC -3'
Sequencing Primer
(F):5'- ACGTCAGCAGTTAGAGAAACC -3'
(R):5'- GGCAGAGAATCTCACGTGCTTTAAC -3'
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| Posted On |
2021-08-02 |
Incidental Mutation