Incidental Mutation 'R9268:Sytl2'
| ID |
731342 |
| 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 # |
R9268 (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 90034359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 523
(N523S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000208720]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107210
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
| 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 benign
Transcript: ENSMUST00000107211
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
| 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 benign
Transcript: ENSMUST00000190731
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
| 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 benign
Transcript: ENSMUST00000190837
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
| 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: ENSMUST00000208720
AA Change: N523S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,969,030 (GRCm39) |
T218A |
possibly damaging |
Het |
| Acadsb |
C |
T |
7: 131,033,763 (GRCm39) |
T260I |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,955,392 (GRCm39) |
V161E |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,031,233 (GRCm39) |
I26T |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,181,190 (GRCm39) |
T1367A |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,719 (GRCm39) |
D265V |
probably benign |
Het |
| Asb15 |
G |
A |
6: 24,566,298 (GRCm39) |
R417H |
probably benign |
Het |
| Atg2a |
A |
C |
19: 6,291,905 (GRCm39) |
H27P |
probably damaging |
Het |
| Bace1 |
G |
T |
9: 45,767,282 (GRCm39) |
|
probably benign |
Het |
| Camk1d |
A |
G |
2: 5,303,901 (GRCm39) |
S351P |
probably benign |
Het |
| Carf |
C |
A |
1: 60,148,558 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,877,111 (GRCm39) |
F76S |
probably damaging |
Het |
| Ces1b |
A |
C |
8: 93,798,583 (GRCm39) |
V201G |
probably damaging |
Het |
| Clk1 |
A |
G |
1: 58,458,882 (GRCm39) |
L133S |
unknown |
Het |
| Clstn3 |
G |
A |
6: 124,433,880 (GRCm39) |
L427F |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
A |
T |
4: 96,207,781 (GRCm39) |
|
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,659,304 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,571,255 (GRCm39) |
K2788R |
possibly damaging |
Het |
| Dtna |
T |
A |
18: 23,702,643 (GRCm39) |
V58D |
possibly damaging |
Het |
| Egfr |
T |
A |
11: 16,855,410 (GRCm39) |
D898E |
probably damaging |
Het |
| Eif2ak4 |
G |
C |
2: 118,271,701 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,640,778 (GRCm39) |
M147V |
probably benign |
Het |
| Etaa1 |
A |
T |
11: 17,896,419 (GRCm39) |
V566E |
probably damaging |
Het |
| F13a1 |
C |
T |
13: 37,076,910 (GRCm39) |
G593D |
probably benign |
Het |
| Far2 |
C |
T |
6: 148,060,418 (GRCm39) |
T257I |
probably benign |
Het |
| Fat4 |
C |
T |
3: 38,942,396 (GRCm39) |
R430C |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 24,842,832 (GRCm39) |
|
probably null |
Het |
| Fuca2 |
G |
A |
10: 13,390,563 (GRCm39) |
W453* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,881 (GRCm39) |
F380L |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,591,361 (GRCm39) |
D94G |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,279 (GRCm39) |
V268E |
probably benign |
Het |
| Igkv4-72 |
A |
T |
6: 69,203,980 (GRCm39) |
Y70* |
probably null |
Het |
| Kdm1b |
A |
C |
13: 47,217,705 (GRCm39) |
N388T |
probably benign |
Het |
| Klri2 |
A |
T |
6: 129,710,037 (GRCm39) |
W188R |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,688 (GRCm39) |
Y997C |
probably damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,565,535 (GRCm39) |
S89P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,582 (GRCm39) |
E2393G |
probably damaging |
Het |
| Mfsd14b |
A |
G |
13: 65,222,855 (GRCm39) |
L265P |
probably damaging |
Het |
| Msantd5f3 |
T |
C |
4: 73,575,373 (GRCm39) |
S351P |
probably damaging |
Het |
| Myo3b |
A |
C |
2: 70,257,305 (GRCm39) |
*1334C |
probably null |
Het |
| Nfatc4 |
A |
T |
14: 56,064,685 (GRCm39) |
I391F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,490,548 (GRCm39) |
M393K |
probably damaging |
Het |
| Or5h17 |
T |
G |
16: 58,820,083 (GRCm39) |
F12V |
probably damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,388 (GRCm39) |
C189S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,616,917 (GRCm39) |
C1787S |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,766,032 (GRCm39) |
E44G |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,415,509 (GRCm39) |
K443E |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,479,455 (GRCm39) |
E522V |
probably benign |
Het |
| Peli2 |
A |
G |
14: 48,518,927 (GRCm39) |
E225G |
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,431,445 (GRCm39) |
I395V |
probably benign |
Het |
| Rmi1 |
T |
C |
13: 58,555,853 (GRCm39) |
I34T |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,346,833 (GRCm39) |
I193T |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 92,007,355 (GRCm39) |
T412A |
probably benign |
Het |
| Shisa7 |
T |
G |
7: 4,837,333 (GRCm39) |
D244A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,952,946 (GRCm39) |
T538A |
probably benign |
Het |
| Sptlc1 |
A |
T |
13: 53,512,872 (GRCm39) |
I162N |
probably damaging |
Het |
| Ssrp1 |
C |
A |
2: 84,870,606 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,705 (GRCm39) |
S249P |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,043,819 (GRCm39) |
F411L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,768,079 (GRCm39) |
W3007R |
unknown |
Het |
| Ulbp1 |
A |
T |
10: 7,396,392 (GRCm39) |
L295Q |
unknown |
Het |
| Vmn1r29 |
T |
A |
6: 58,284,577 (GRCm39) |
V99E |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,525,812 (GRCm39) |
F112L |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,235,507 (GRCm39) |
V636A |
possibly damaging |
Het |
| Zswim8 |
T |
C |
14: 20,761,908 (GRCm39) |
L227P |
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 |
|
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 |
|
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'- TGTGGTCACCTCAGTACTATTG -3'
(R):5'- GTTGCAGACACTGAAGAGCG -3'
Sequencing Primer
(F):5'- GCAGGGCAGTGCTACTTTCTC -3'
(R):5'- CACTGAAGAGCGAGCCG -3'
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| Posted On |
2022-11-02 |
Incidental Mutation