Incidental Mutation 'R5191:Sytl2'
ID |
398151 |
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 |
043263-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R5191 (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 90024860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 283
(T283S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147191
(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: T283S
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102828 Gene: ENSMUSG00000030616 AA Change: T283S
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 |
possibly damaging
Transcript: ENSMUST00000107211
AA Change: T283S
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102829 Gene: ENSMUSG00000030616 AA Change: T283S
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: T283S
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139865 Gene: ENSMUSG00000030616 AA Change: T283S
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: T256S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139450 Gene: ENSMUSG00000030616 AA Change: T256S
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: ENSMUST00000207455
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207578
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208720
AA Change: T283S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.1166 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (69/69) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvrl1 |
A |
G |
15: 101,034,946 (GRCm39) |
E235G |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,973,028 (GRCm39) |
D658G |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,327,843 (GRCm39) |
R1407G |
probably benign |
Het |
Aknad1 |
T |
C |
3: 108,659,306 (GRCm39) |
S107P |
probably benign |
Het |
Aknad1 |
G |
A |
3: 108,659,867 (GRCm39) |
V294I |
probably benign |
Het |
Arfgef2 |
A |
G |
2: 166,718,431 (GRCm39) |
T1407A |
probably damaging |
Het |
Atp5f1a |
C |
T |
18: 77,867,929 (GRCm39) |
P318S |
probably damaging |
Het |
Atp9a |
C |
T |
2: 168,503,983 (GRCm39) |
V494M |
possibly damaging |
Het |
Ccdc69 |
A |
T |
11: 54,943,719 (GRCm39) |
|
probably null |
Het |
Crh |
T |
C |
3: 19,748,093 (GRCm39) |
E183G |
probably damaging |
Het |
Cyp2c40 |
A |
C |
19: 39,791,035 (GRCm39) |
N265K |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,042,955 (GRCm39) |
A862T |
probably benign |
Het |
Dact3 |
T |
G |
7: 16,609,375 (GRCm39) |
V9G |
probably damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,579,323 (GRCm39) |
I638N |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,965,739 (GRCm39) |
E2357G |
probably damaging |
Het |
Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
Etl4 |
G |
T |
2: 20,344,810 (GRCm39) |
S38I |
probably damaging |
Het |
Fyb2 |
G |
T |
4: 104,852,994 (GRCm39) |
C558F |
possibly damaging |
Het |
Galnt3 |
T |
C |
2: 65,924,050 (GRCm39) |
E406G |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,332,173 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
A |
11: 97,228,975 (GRCm39) |
Q1060L |
possibly damaging |
Het |
Havcr1 |
A |
T |
11: 46,647,024 (GRCm39) |
I153F |
probably benign |
Het |
Hnrnpc |
A |
T |
14: 52,314,964 (GRCm39) |
V141E |
probably damaging |
Het |
Kcnj2 |
C |
T |
11: 110,963,297 (GRCm39) |
Q230* |
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Limch1 |
T |
C |
5: 67,184,904 (GRCm39) |
L631P |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,630,829 (GRCm39) |
N23S |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,366,755 (GRCm39) |
S1104P |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,811,088 (GRCm39) |
D73G |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,963,942 (GRCm39) |
F454L |
probably damaging |
Het |
Mcpt4 |
T |
A |
14: 56,298,466 (GRCm39) |
I90L |
probably benign |
Het |
Mfsd4b5 |
T |
C |
10: 39,846,668 (GRCm39) |
E304G |
probably damaging |
Het |
Mst1r |
G |
A |
9: 107,788,750 (GRCm39) |
R423H |
probably damaging |
Het |
Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
Muc5b |
A |
G |
7: 141,412,276 (GRCm39) |
T1741A |
unknown |
Het |
Myo1g |
C |
T |
11: 6,465,105 (GRCm39) |
A447T |
probably benign |
Het |
Nr1h2 |
C |
A |
7: 44,199,840 (GRCm39) |
A360S |
probably damaging |
Het |
Nufip1 |
A |
G |
14: 76,349,429 (GRCm39) |
K154E |
probably damaging |
Het |
Or12k8 |
T |
G |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
Or2a54 |
T |
A |
6: 43,092,800 (GRCm39) |
N41K |
probably damaging |
Het |
Or7e166 |
G |
A |
9: 19,624,630 (GRCm39) |
C169Y |
probably damaging |
Het |
Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,365 (GRCm39) |
E3551G |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sarm1 |
G |
A |
11: 78,387,945 (GRCm39) |
Q114* |
probably null |
Het |
Sec31a |
T |
C |
5: 100,553,370 (GRCm39) |
E112G |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc9a2 |
G |
T |
1: 40,783,053 (GRCm39) |
R439L |
probably damaging |
Het |
Sptb |
C |
A |
12: 76,659,608 (GRCm39) |
E1097D |
probably benign |
Het |
Stk38 |
A |
C |
17: 29,193,344 (GRCm39) |
C362G |
probably benign |
Het |
Stmn2 |
A |
T |
3: 8,610,635 (GRCm39) |
M40L |
probably benign |
Het |
Tcf4 |
A |
G |
18: 69,775,954 (GRCm39) |
S48G |
probably damaging |
Het |
Tlr4 |
A |
T |
4: 66,759,616 (GRCm39) |
H803L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,709,432 (GRCm39) |
|
probably benign |
Het |
Tyk2 |
G |
T |
9: 21,018,793 (GRCm39) |
Q1099K |
probably damaging |
Het |
Usp30 |
C |
T |
5: 114,203,755 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
A |
G |
7: 23,508,447 (GRCm39) |
V60A |
possibly damaging |
Het |
Zc3h12d |
C |
A |
10: 7,743,582 (GRCm39) |
P451T |
possibly damaging |
Het |
Zeb2 |
T |
C |
2: 44,892,612 (GRCm39) |
S146G |
probably benign |
Het |
Zfp236 |
T |
A |
18: 82,639,548 (GRCm39) |
N1233I |
probably damaging |
Het |
Zfp954 |
A |
G |
7: 7,119,022 (GRCm39) |
V174A |
probably damaging |
Het |
Zswim1 |
G |
A |
2: 164,667,939 (GRCm39) |
S397N |
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 |
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'- ATGCCACGTCAGCAGTTAG -3'
(R):5'- GCTCATTCTTCACGGCAGAG -3'
Sequencing Primer
(F):5'- TGTATCCACAGAGCCTGAAAATG -3'
(R):5'- GGCAGAGAATCTCACGTGCTTTAAC -3'
|
Posted On |
2016-07-06 |