Incidental Mutation 'R8127:Sytl2'
| ID |
631816 |
| 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 |
067556-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8127 (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 90024798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000207578]
[ENSMUST00000208720]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107210
AA Change: D262G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: D262G
| 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: D262G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: D262G
| 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: D262G
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: D262G
| 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: D235G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: D235G
| 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 benign
Transcript: ENSMUST00000207578
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208720
AA Change: D262G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,249 (GRCm39) |
M66T |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,367,638 (GRCm39) |
N174K |
probably benign |
Het |
| Ago1 |
A |
T |
4: 126,348,214 (GRCm39) |
C342S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,474,547 (GRCm39) |
S1423P |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,127,876 (GRCm39) |
C218* |
probably null |
Het |
| Arsa |
A |
G |
15: 89,359,067 (GRCm39) |
Y200H |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,396 (GRCm39) |
R207Q |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,701 (GRCm39) |
D551G |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,598,009 (GRCm39) |
I349T |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,122 (GRCm39) |
V1322E |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,627,481 (GRCm39) |
I95K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,534,138 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
T |
C |
1: 31,262,201 (GRCm39) |
F61S |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,244,345 (GRCm39) |
S530G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,217,310 (GRCm39) |
T1250M |
probably damaging |
Het |
| Dzank1 |
A |
C |
2: 144,330,736 (GRCm39) |
W439G |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,290,902 (GRCm39) |
S25T |
possibly damaging |
Het |
| Fut10 |
G |
A |
8: 31,684,999 (GRCm39) |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,891,487 (GRCm39) |
R434S |
probably benign |
Het |
| Lrrc43 |
C |
T |
5: 123,630,334 (GRCm39) |
P66S |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,031 (GRCm39) |
I93N |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,052,567 (GRCm39) |
E1038K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,042,834 (GRCm39) |
C1033S |
probably damaging |
Het |
| Or6k4 |
C |
T |
1: 173,965,155 (GRCm39) |
P282S |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,731,613 (GRCm39) |
F176Y |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,515,653 (GRCm39) |
K609E |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,910 (GRCm39) |
N50S |
probably benign |
Het |
| Rlf |
G |
T |
4: 121,005,093 (GRCm39) |
Q1406K |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,423,747 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,633,578 (GRCm39) |
G385D |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,528,714 (GRCm39) |
S155P |
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,796,970 (GRCm39) |
V307D |
possibly damaging |
Het |
| Srgap1 |
A |
C |
10: 121,691,271 (GRCm39) |
M321R |
probably null |
Het |
| Stam |
A |
G |
2: 14,122,284 (GRCm39) |
I128V |
probably damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,146,262 (GRCm39) |
T112S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,239,043 (GRCm39) |
S674P |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,716,463 (GRCm39) |
N1602S |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,845 (GRCm39) |
I197T |
probably benign |
Het |
| Wdtc1 |
C |
T |
4: 133,029,693 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
G |
T |
7: 6,326,821 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,642,185 (GRCm39) |
I1213F |
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 |
|
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 |
|
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'- CTATCCCAGATATGCCACGTC -3'
(R):5'- TCACGGCAGAGAATCTCACG -3'
Sequencing Primer
(F):5'- TATGCCACGTCAGCAGTTAG -3'
(R):5'- GGCAGAGAATCTCACGTGCTTTAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation