Incidental Mutation 'R9222:Sytl2'
| ID |
699538 |
| 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: 0.302)
|
| Stock # |
R9222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90050633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 727
(T727A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107210
AA Change: T687A
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: T687A
| 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: T711A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: T711A
| 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: T727A
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: T727A
| 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 |
possibly damaging
Transcript: ENSMUST00000190837
AA Change: T700A
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: T700A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| 1700123K08Rik |
C |
A |
5: 138,560,562 (GRCm39) |
V278F |
unknown |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Actr5 |
T |
A |
2: 158,473,423 (GRCm39) |
N272K |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,567,257 (GRCm39) |
T198A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,903 (GRCm39) |
Y278C |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,783,270 (GRCm39) |
I226V |
|
Het |
| Arap2 |
T |
A |
5: 62,828,421 (GRCm39) |
T917S |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,692 (GRCm39) |
L545P |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,133,472 (GRCm39) |
L438H |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,725,831 (GRCm39) |
Y105N |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,525,610 (GRCm39) |
F1406L |
unknown |
Het |
| Celsr1 |
A |
G |
15: 85,815,471 (GRCm39) |
V1848A |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,443,499 (GRCm39) |
N417I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,579 (GRCm39) |
K1503R |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,317,203 (GRCm39) |
F141L |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,554 (GRCm39) |
V151A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,723,016 (GRCm39) |
H13L |
|
Het |
| Eif2b5 |
C |
T |
16: 20,321,382 (GRCm39) |
R312* |
probably null |
Het |
| Evc |
A |
T |
5: 37,477,650 (GRCm39) |
M343K |
probably benign |
Het |
| Fbxw17 |
T |
A |
13: 50,577,367 (GRCm39) |
D86E |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,856 (GRCm39) |
L202Q |
probably damaging |
Het |
| Fkbp9 |
G |
T |
6: 56,852,677 (GRCm39) |
V466F |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,805,087 (GRCm39) |
R1243Q |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,815,958 (GRCm39) |
T3897I |
probably benign |
Het |
| Fut7 |
T |
C |
2: 25,315,191 (GRCm39) |
S150P |
possibly damaging |
Het |
| Gstm5 |
A |
G |
3: 107,804,634 (GRCm39) |
I73V |
probably benign |
Het |
| Hspb9 |
A |
G |
11: 100,604,769 (GRCm39) |
M32V |
possibly damaging |
Het |
| Ift80 |
A |
G |
3: 68,825,894 (GRCm39) |
I482T |
possibly damaging |
Het |
| Khk |
C |
T |
5: 31,079,141 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,747,324 (GRCm39) |
H3333Q |
unknown |
Het |
| Lamc1 |
G |
T |
1: 153,119,087 (GRCm39) |
T844K |
probably damaging |
Het |
| Luc7l2 |
A |
T |
6: 38,542,633 (GRCm39) |
I10L |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,277,055 (GRCm39) |
I23N |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,881,919 (GRCm39) |
V711A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,366 (GRCm39) |
V32A |
probably benign |
Het |
| Oog1 |
A |
G |
12: 87,653,016 (GRCm39) |
D104G |
probably damaging |
Het |
| Or4b13 |
C |
T |
2: 90,082,820 (GRCm39) |
V171M |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,904 (GRCm39) |
D991G |
probably damaging |
Het |
| Pds5a |
G |
A |
5: 65,805,281 (GRCm39) |
H522Y |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,176,225 (GRCm39) |
S405P |
|
Het |
| Plk4 |
T |
A |
3: 40,760,990 (GRCm39) |
V440E |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,577,699 (GRCm39) |
I51V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,106 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rsph6a |
C |
A |
7: 18,801,986 (GRCm39) |
T600N |
possibly damaging |
Het |
| Scn11a |
A |
T |
9: 119,611,013 (GRCm39) |
V946E |
probably damaging |
Het |
| Sec11a |
G |
A |
7: 80,565,634 (GRCm39) |
L170F |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,961,450 (GRCm39) |
I215T |
|
Het |
| Slc1a1 |
A |
G |
19: 28,882,794 (GRCm39) |
I353V |
probably benign |
Het |
| Smox |
A |
G |
2: 131,362,843 (GRCm39) |
E374G |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,904,124 (GRCm39) |
K335N |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,985 (GRCm39) |
S1557T |
probably benign |
Het |
| Tbx19 |
C |
A |
1: 164,966,609 (GRCm39) |
V422L |
probably benign |
Het |
| Tdrd1 |
G |
T |
19: 56,831,679 (GRCm39) |
V357F |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,231 (GRCm39) |
C606R |
probably damaging |
Het |
| Tmcc1 |
C |
G |
6: 116,020,049 (GRCm39) |
G468R |
|
Het |
| Tmem209 |
G |
A |
6: 30,506,838 (GRCm39) |
T93I |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,681 (GRCm39) |
V568A |
possibly damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,648,922 (GRCm39) |
I43L |
|
Het |
| Tubgcp2 |
T |
C |
7: 139,587,965 (GRCm39) |
D220G |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,992 (GRCm39) |
R219G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,465,463 (GRCm39) |
S431P |
possibly 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 |
|
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 |
|
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'- ATGGAGTAAGATGCCTTGGCC -3'
(R):5'- AAAGTAAGTGCTACCGGGCTC -3'
Sequencing Primer
(F):5'- CAGGCCAGCCTTTTGAGAC -3'
(R):5'- TCCCTGTACACCAGATCGC -3'
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| Posted On |
2022-02-07 |
Incidental Mutation