Incidental Mutation 'R0126:Sytl2'
| ID |
21368 |
| 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 |
038411-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R0126 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90045797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 638
(V638E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098310
|
| SMART Domains |
Protein: ENSMUSP00000095912
Gene: ENSMUSG00000030616
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
938 |
966 |
N/A |
INTRINSIC |
|
C2
|
990 |
1095 |
4.59e-15 |
SMART |
|
C2
|
1139 |
1242 |
6.44e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107210
AA Change: V625E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: V625E
| 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: V649E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: V649E
| 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 |
noncoding transcript
Transcript: ENSMUST00000189194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190365
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190731
AA Change: V665E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: V665E
| 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: V638E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: V638E
| 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 |
noncoding transcript
Transcript: ENSMUST00000207928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208486
|
| Meta Mutation Damage Score |
0.9698 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.2%
- 20x: 81.8%
|
| Validation Efficiency |
98% (102/104) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,333,742 (GRCm39) |
L1730P |
possibly damaging |
Het |
| Adam9 |
T |
C |
8: 25,460,753 (GRCm39) |
N577S |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,770,923 (GRCm39) |
Y316H |
probably benign |
Het |
| Agpat3 |
T |
C |
10: 78,113,890 (GRCm39) |
D266G |
probably null |
Het |
| Aldh3a2 |
C |
A |
11: 61,115,384 (GRCm39) |
Q524H |
probably benign |
Het |
| Alox12b |
A |
C |
11: 69,058,297 (GRCm39) |
S550R |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,788,154 (GRCm39) |
I753F |
possibly damaging |
Het |
| AW011738 |
T |
A |
4: 156,288,104 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,738 (GRCm39) |
T103M |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,128,054 (GRCm39) |
T235I |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,040,715 (GRCm39) |
H272R |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,912,866 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
T |
15: 21,584,031 (GRCm39) |
M624L |
probably benign |
Het |
| Cdh5 |
A |
C |
8: 104,867,314 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,798,651 (GRCm39) |
|
probably benign |
Het |
| Cpne2 |
A |
T |
8: 95,281,561 (GRCm39) |
I199F |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,901,927 (GRCm39) |
F2399L |
possibly damaging |
Het |
| Defb36 |
T |
C |
2: 152,454,499 (GRCm39) |
C53R |
probably damaging |
Het |
| Degs1 |
T |
C |
1: 182,107,257 (GRCm39) |
M1V |
probably null |
Het |
| Disp2 |
T |
A |
2: 118,620,819 (GRCm39) |
F517Y |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,246,465 (GRCm39) |
D601G |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,289,182 (GRCm39) |
Q310* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,473,935 (GRCm39) |
T1003A |
probably benign |
Het |
| Fbrsl1 |
C |
G |
5: 110,543,906 (GRCm39) |
|
probably benign |
Het |
| Foxh1 |
A |
T |
15: 76,553,454 (GRCm39) |
L116H |
probably damaging |
Het |
| Gigyf2 |
G |
A |
1: 87,339,597 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,736,565 (GRCm39) |
|
probably benign |
Het |
| Gp1ba |
A |
T |
11: 70,531,859 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,945,218 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
T |
G |
19: 55,229,598 (GRCm39) |
D24A |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,614 (GRCm39) |
K190R |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,596,781 (GRCm39) |
N717D |
probably damaging |
Het |
| Il12b |
A |
T |
11: 44,301,045 (GRCm39) |
Y187F |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,388,070 (GRCm39) |
I859T |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,055,105 (GRCm39) |
L175P |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,162,774 (GRCm39) |
M242V |
possibly damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,446 (GRCm39) |
M96T |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,764,431 (GRCm39) |
H871N |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,222,528 (GRCm39) |
D168E |
probably benign |
Het |
| Mak |
T |
C |
13: 41,186,072 (GRCm39) |
D532G |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,462,151 (GRCm39) |
M859T |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,489,089 (GRCm39) |
D398G |
possibly damaging |
Het |
| Mlxipl |
C |
A |
5: 135,161,177 (GRCm39) |
N365K |
probably damaging |
Het |
| Mplkip |
T |
C |
13: 17,870,337 (GRCm39) |
S90P |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,176,807 (GRCm39) |
H584L |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,901,719 (GRCm39) |
T228A |
possibly damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,592 (GRCm39) |
Y139N |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or51f2 |
A |
G |
7: 102,526,347 (GRCm39) |
T7A |
probably benign |
Het |
| Or8k40 |
T |
A |
2: 86,584,981 (GRCm39) |
I34L |
probably damaging |
Het |
| Pak6 |
C |
T |
2: 118,520,813 (GRCm39) |
S268F |
possibly damaging |
Het |
| Parp10 |
G |
A |
15: 76,127,266 (GRCm39) |
A57V |
probably damaging |
Het |
| Pik3r3 |
T |
A |
4: 116,113,465 (GRCm39) |
D69E |
probably damaging |
Het |
| Polr2a |
T |
G |
11: 69,638,251 (GRCm39) |
K105T |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,413,295 (GRCm39) |
|
probably benign |
Het |
| Prepl |
G |
A |
17: 85,390,670 (GRCm39) |
T96I |
probably benign |
Het |
| Ret |
C |
T |
6: 118,142,956 (GRCm39) |
|
probably benign |
Het |
| Rgl3 |
A |
T |
9: 21,887,108 (GRCm39) |
D541E |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,209,355 (GRCm39) |
Y143D |
probably benign |
Het |
| Rps16 |
T |
A |
7: 28,050,508 (GRCm39) |
L47Q |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,904,687 (GRCm39) |
|
probably null |
Het |
| Scube1 |
A |
T |
15: 83,505,264 (GRCm39) |
N385K |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,585,092 (GRCm39) |
E31G |
probably damaging |
Het |
| Slc38a9 |
G |
T |
13: 112,865,791 (GRCm39) |
C496F |
possibly damaging |
Het |
| Snap47 |
A |
G |
11: 59,328,813 (GRCm39) |
V163A |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,251,260 (GRCm39) |
|
probably benign |
Het |
| Sp7 |
C |
A |
15: 102,266,895 (GRCm39) |
V322F |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,924 (GRCm39) |
K111E |
probably damaging |
Het |
| Sqor |
T |
C |
2: 122,639,947 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
A |
11: 116,657,410 (GRCm39) |
M385L |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,873,511 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Taar1 |
T |
A |
10: 23,796,445 (GRCm39) |
S48T |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,611,706 (GRCm39) |
D108V |
possibly damaging |
Het |
| Tdh |
C |
T |
14: 63,735,042 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,102,881 (GRCm39) |
L724Q |
probably benign |
Het |
| Tmem270 |
T |
A |
5: 134,931,642 (GRCm39) |
Y100F |
probably benign |
Het |
| Trim65 |
G |
C |
11: 116,015,430 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
T |
5: 144,742,560 (GRCm39) |
K1393* |
probably null |
Het |
| Ttc13 |
A |
G |
8: 125,410,030 (GRCm39) |
V523A |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,587,219 (GRCm39) |
D939V |
probably benign |
Het |
| Vmn1r46 |
G |
T |
6: 89,953,935 (GRCm39) |
M261I |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,649,103 (GRCm39) |
|
probably null |
Het |
| Zfp108 |
A |
T |
7: 23,960,149 (GRCm39) |
T247S |
probably benign |
Het |
| Zfp366 |
A |
T |
13: 99,365,129 (GRCm39) |
I97F |
probably benign |
Het |
| Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAATGCGACATAAACACTGCC -3'
(R):5'- TGTCTCAAGCAATGCCTCCAAAGTC -3'
Sequencing Primer
(F):5'- GCGACATAAACACTGCCTATTTCTG -3'
(R):5'- GTCCCCAAACTGAAGTATTTAGCG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation