Incidental Mutation 'R7456:Sytl2'
| ID |
578128 |
| 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 |
045530-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R7456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89998055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 19
(L19Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000207578]
[ENSMUST00000208720]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107210
AA Change: L19Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: L19Q
| 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: L19Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: L19Q
| 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 damaging
Transcript: ENSMUST00000190731
AA Change: L19Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: L19Q
| 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: L19Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: L19Q
| 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 damaging
Transcript: ENSMUST00000207578
AA Change: L19Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208720
AA Change: L19Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
A |
G |
4: 86,792,748 (GRCm39) |
D8G |
possibly damaging |
Het |
| Angpt4 |
T |
C |
2: 151,780,987 (GRCm39) |
Y412H |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,387,734 (GRCm39) |
D217G |
probably benign |
Het |
| Ano2 |
A |
T |
6: 125,940,508 (GRCm39) |
I544F |
probably benign |
Het |
| App |
G |
A |
16: 84,970,448 (GRCm39) |
|
|
Het |
| Arhgef26 |
A |
G |
3: 62,247,476 (GRCm39) |
T187A |
probably benign |
Het |
| Axin1 |
T |
A |
17: 26,362,139 (GRCm39) |
V161E |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,527 (GRCm39) |
V407D |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,137 (GRCm39) |
E141V |
probably benign |
Het |
| C2 |
A |
G |
17: 35,083,558 (GRCm39) |
I469T |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,866,868 (GRCm39) |
|
probably null |
Het |
| Cd226 |
A |
T |
18: 89,224,747 (GRCm39) |
I10F |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,224,376 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,442,933 (GRCm38) |
L612* |
probably null |
Het |
| Cfap44 |
A |
G |
16: 44,252,305 (GRCm39) |
T805A |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,659,153 (GRCm39) |
E38* |
probably null |
Het |
| Cldnd2 |
C |
T |
7: 43,091,109 (GRCm39) |
L14F |
not run |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,379 (GRCm39) |
T247A |
probably benign |
Het |
| Dennd11 |
T |
G |
6: 40,383,774 (GRCm39) |
M423L |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,219,879 (GRCm39) |
S764G |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,664,420 (GRCm39) |
T473S |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,578,132 (GRCm39) |
I209F |
possibly damaging |
Het |
| Foxs1 |
T |
C |
2: 152,775,045 (GRCm39) |
K3E |
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,227,853 (GRCm39) |
Q37* |
probably null |
Het |
| Gcm2 |
A |
T |
13: 41,256,751 (GRCm39) |
W333R |
probably benign |
Het |
| Gcn1 |
C |
T |
5: 115,743,005 (GRCm39) |
Q1559* |
probably null |
Het |
| Gfm2 |
A |
T |
13: 97,282,211 (GRCm39) |
K69* |
probably null |
Het |
| Gm14295 |
T |
G |
2: 176,500,943 (GRCm39) |
C144W |
possibly damaging |
Het |
| Gm32742 |
G |
A |
9: 51,071,270 (GRCm39) |
T5I |
probably damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,679 (GRCm39) |
D116G |
probably damaging |
Het |
| Gsn |
A |
T |
2: 35,172,718 (GRCm39) |
K3N |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,552 (GRCm39) |
D240N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,307,957 (GRCm39) |
G482R |
probably damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,865,622 (GRCm39) |
Y680N |
possibly damaging |
Het |
| Hrc |
T |
A |
7: 44,986,320 (GRCm39) |
D490E |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,080,276 (GRCm39) |
I693M |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,777,805 (GRCm39) |
Y262C |
probably damaging |
Het |
| Kif1c |
A |
G |
11: 70,619,424 (GRCm39) |
T1020A |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,844,402 (GRCm39) |
I139V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,255 (GRCm39) |
E281G |
probably benign |
Het |
| Kpna4 |
A |
G |
3: 69,000,181 (GRCm39) |
V275A |
probably damaging |
Het |
| Lamb2 |
C |
A |
9: 108,362,979 (GRCm39) |
D787E |
possibly damaging |
Het |
| Ldlrad3 |
A |
C |
2: 101,785,270 (GRCm39) |
V235G |
probably damaging |
Het |
| Maneal |
A |
G |
4: 124,750,767 (GRCm39) |
S330P |
probably damaging |
Het |
| Maz |
G |
A |
7: 126,625,489 (GRCm39) |
Q35* |
probably null |
Het |
| Mthfd1l |
C |
T |
10: 4,039,998 (GRCm39) |
T803M |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,346,904 (GRCm39) |
Q325R |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,412,255 (GRCm39) |
A758E |
probably benign |
Het |
| Ndufb7 |
A |
G |
8: 84,293,482 (GRCm39) |
D12G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,781,725 (GRCm39) |
C677S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,899,384 (GRCm39) |
F6471S |
probably benign |
Het |
| Or4c106 |
A |
T |
2: 88,682,563 (GRCm39) |
I90F |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,661,045 (GRCm39) |
V288A |
possibly damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,844 (GRCm39) |
S267P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,552,005 (GRCm39) |
D313G |
probably damaging |
Het |
| Paqr5 |
T |
C |
9: 61,880,072 (GRCm39) |
D74G |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,580 (GRCm39) |
V365A |
unknown |
Het |
| Podn |
A |
T |
4: 107,875,002 (GRCm39) |
N588K |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,458,355 (GRCm39) |
G9R |
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,385,939 (GRCm39) |
H607R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,767,168 (GRCm39) |
V1241I |
probably benign |
Het |
| Sar1b |
G |
A |
11: 51,682,181 (GRCm39) |
A170T |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,149,716 (GRCm39) |
T191A |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,779 (GRCm39) |
|
unknown |
Het |
| Slco6d1 |
A |
T |
1: 98,349,082 (GRCm39) |
D51V |
possibly damaging |
Het |
| Snx16 |
G |
A |
3: 10,500,541 (GRCm39) |
R143* |
probably null |
Het |
| Tmcc3 |
A |
G |
10: 94,418,174 (GRCm39) |
E345G |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,555,998 (GRCm39) |
A30336T |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,401 (GRCm39) |
D49G |
probably benign |
Het |
| Vps35l |
C |
T |
7: 118,403,340 (GRCm39) |
P628S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,048,204 (GRCm39) |
D801E |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,932,554 (GRCm39) |
E311K |
probably benign |
Het |
| Zfp513 |
G |
T |
5: 31,357,759 (GRCm39) |
R207S |
possibly damaging |
Het |
| Zfp52 |
C |
A |
17: 21,781,615 (GRCm39) |
H488N |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,817,619 (GRCm39) |
Y791H |
probably damaging |
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 |
|
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'- GTGGAGCCCAGATAAGACTTTCAC -3'
(R):5'- GAGGGAAACTTCTGTCCAGG -3'
Sequencing Primer
(F):5'- AGATAAGACTTTCACCACCAAATAAG -3'
(R):5'- GGAAACTTCTGTCCAGGAAGTTAATC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation