Incidental Mutation 'R9480:Sytl2'
ID |
716186 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R9480 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90020718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 147
(T147M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000207578]
[ENSMUST00000208720]
|
AlphaFold |
Q99N50 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107210
AA Change: T147M
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102828 Gene: ENSMUSG00000030616 AA Change: T147M
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 damaging
Transcript: ENSMUST00000107211
AA Change: T147M
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102829 Gene: ENSMUSG00000030616 AA Change: T147M
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 |
possibly damaging
Transcript: ENSMUST00000190731
AA Change: T147M
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139865 Gene: ENSMUSG00000030616 AA Change: T147M
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 damaging
Transcript: ENSMUST00000190837
AA Change: T120M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139450 Gene: ENSMUSG00000030616 AA Change: T120M
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 |
possibly damaging
Transcript: ENSMUST00000207578
AA Change: T147M
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208720
AA Change: T147M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,211,889 (GRCm39) |
W142R |
probably damaging |
Het |
Abcc6 |
A |
G |
7: 45,629,197 (GRCm39) |
S1350P |
probably damaging |
Het |
Abraxas2 |
G |
T |
7: 132,473,323 (GRCm39) |
V84L |
probably benign |
Het |
Adam12 |
T |
A |
7: 133,736,470 (GRCm39) |
I81F |
probably damaging |
Het |
Adam22 |
A |
G |
5: 8,193,077 (GRCm39) |
V376A |
probably benign |
Het |
Anapc11 |
T |
A |
11: 120,496,176 (GRCm39) |
I60N |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,690,420 (GRCm39) |
V876E |
possibly damaging |
Het |
Bcar3 |
C |
T |
3: 122,277,618 (GRCm39) |
R21* |
probably null |
Het |
Calb1 |
T |
A |
4: 15,885,608 (GRCm39) |
S60T |
probably benign |
Het |
Ceacam9 |
A |
G |
7: 16,457,783 (GRCm39) |
T99A |
probably damaging |
Het |
Cemip2 |
C |
A |
19: 21,775,622 (GRCm39) |
H288Q |
possibly damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,497,338 (GRCm39) |
D213G |
possibly damaging |
Het |
Col23a1 |
T |
A |
11: 51,207,774 (GRCm39) |
C105S |
unknown |
Het |
Cxcl2 |
T |
C |
5: 91,052,029 (GRCm39) |
V45A |
possibly damaging |
Het |
Ddx21 |
T |
C |
10: 62,434,652 (GRCm39) |
T36A |
probably benign |
Het |
Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
Dus2 |
C |
T |
8: 106,757,052 (GRCm39) |
Q81* |
probably null |
Het |
Fat3 |
T |
C |
9: 15,942,703 (GRCm39) |
D1223G |
probably damaging |
Het |
Fgf3 |
G |
T |
7: 144,396,619 (GRCm39) |
R211L |
possibly damaging |
Het |
Galnt17 |
T |
A |
5: 130,935,576 (GRCm39) |
E369V |
probably damaging |
Het |
Gatad2a |
T |
C |
8: 70,388,459 (GRCm39) |
D76G |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,705,198 (GRCm39) |
E96G |
probably damaging |
Het |
Gpr55 |
A |
C |
1: 85,868,977 (GRCm39) |
Y201* |
probably null |
Het |
Hgsnat |
T |
C |
8: 26,442,029 (GRCm39) |
N499D |
possibly damaging |
Het |
Hipk2 |
G |
T |
6: 38,680,377 (GRCm39) |
P988T |
probably benign |
Het |
Hivep1 |
A |
T |
13: 42,337,058 (GRCm39) |
Q2379L |
probably damaging |
Het |
Kat14 |
T |
A |
2: 144,215,745 (GRCm39) |
C77S |
probably damaging |
Het |
Klhl25 |
T |
C |
7: 75,516,120 (GRCm39) |
V342A |
probably damaging |
Het |
Krt35 |
T |
C |
11: 99,986,609 (GRCm39) |
Q135R |
probably benign |
Het |
Lhfpl2 |
T |
A |
13: 94,310,733 (GRCm39) |
M1K |
probably null |
Het |
Lipk |
T |
A |
19: 33,999,101 (GRCm39) |
L132Q |
probably damaging |
Het |
Lrrc39 |
T |
A |
3: 116,359,475 (GRCm39) |
C7S |
probably benign |
Het |
Ltb4r2 |
T |
A |
14: 56,000,089 (GRCm39) |
W237R |
probably damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,034 (GRCm39) |
I120V |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,699,835 (GRCm39) |
V771A |
unknown |
Het |
Mtfmt |
A |
T |
9: 65,351,181 (GRCm39) |
T243S |
possibly damaging |
Het |
Nlrp12 |
A |
T |
7: 3,288,993 (GRCm39) |
C506* |
probably null |
Het |
Ntng2 |
T |
A |
2: 29,137,997 (GRCm39) |
Y19F |
probably damaging |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
P4hb |
A |
T |
11: 120,463,551 (GRCm39) |
V28D |
probably damaging |
Het |
Phkb |
T |
G |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
Poldip2 |
T |
C |
11: 78,411,988 (GRCm39) |
L308S |
probably damaging |
Het |
Prkd1 |
T |
A |
12: 50,435,283 (GRCm39) |
E481D |
probably benign |
Het |
Serping1 |
C |
T |
2: 84,600,487 (GRCm39) |
S285N |
probably benign |
Het |
Sh2d2a |
A |
C |
3: 87,759,638 (GRCm39) |
I350L |
probably benign |
Het |
Siglecf |
G |
T |
7: 43,001,666 (GRCm39) |
V159L |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,470,820 (GRCm39) |
N36S |
probably damaging |
Het |
Tmc7 |
A |
G |
7: 118,141,226 (GRCm39) |
F635S |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,157,757 (GRCm39) |
L175F |
|
Het |
Ttc39d |
A |
G |
17: 80,524,139 (GRCm39) |
H266R |
probably benign |
Het |
Usp33 |
T |
G |
3: 152,079,086 (GRCm39) |
I446R |
possibly damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Zbtb49 |
T |
A |
5: 38,358,409 (GRCm39) |
T615S |
possibly damaging |
Het |
Zbtb8a |
G |
T |
4: 129,253,875 (GRCm39) |
H206Q |
probably benign |
Het |
Zfp180 |
A |
G |
7: 23,804,628 (GRCm39) |
N349S |
probably benign |
Het |
Zfp345 |
A |
T |
2: 150,315,212 (GRCm39) |
C108* |
probably null |
Het |
Zfp420 |
T |
A |
7: 29,575,497 (GRCm39) |
H572Q |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,631,115 (GRCm39) |
|
probably null |
Het |
Zfp820 |
T |
A |
17: 22,037,994 (GRCm39) |
T445S |
possibly damaging |
Het |
Zim1 |
T |
C |
7: 6,681,050 (GRCm39) |
I204M |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
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 |
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'- TCCCTAATCATGGCTGGAGC -3'
(R):5'- AGCTGGACCTTTAGCAACAC -3'
Sequencing Primer
(F):5'- GGAGCCCAGTTTCTTCTCC -3'
(R):5'- ATTATCAACTTTATCCACCCCCGGAG -3'
|
Posted On |
2022-07-18 |