Incidental Mutation 'R9027:Sytl2'
| ID |
686801 |
| 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 |
068856-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R9027 (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 90028748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 476
(T476A)
|
| 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: T476A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: T476A
| 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
AA Change: T476A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: T476A
| 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
AA Change: T476A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: T476A
| 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
AA Change: T449A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: T449A
| 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 benign
Transcript: ENSMUST00000208720
AA Change: T476A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
C |
A |
5: 121,640,788 (GRCm39) |
E86* |
probably null |
Het |
| Ahnak |
T |
G |
19: 8,984,617 (GRCm39) |
I1967S |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,212,600 (GRCm39) |
V83A |
possibly damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,754,977 (GRCm39) |
R439S |
probably damaging |
Het |
| Arl1 |
A |
G |
10: 88,569,458 (GRCm39) |
I20V |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,995,628 (GRCm39) |
D93G |
probably benign |
Het |
| Btbd7 |
T |
G |
12: 102,804,838 (GRCm39) |
K67N |
probably damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,301 (GRCm39) |
N118S |
probably benign |
Het |
| Ccz1 |
A |
C |
5: 143,946,120 (GRCm39) |
|
probably benign |
Het |
| Cdk19 |
A |
G |
10: 40,355,728 (GRCm39) |
S479G |
unknown |
Het |
| Chrd |
A |
G |
16: 20,555,737 (GRCm39) |
T503A |
probably damaging |
Het |
| Clca4b |
G |
A |
3: 144,617,827 (GRCm39) |
R759* |
probably null |
Het |
| Cpa5 |
G |
T |
6: 30,612,604 (GRCm39) |
M1I |
probably null |
Het |
| Cr2 |
A |
T |
1: 194,834,029 (GRCm39) |
I920N |
probably benign |
Het |
| Crmp1 |
C |
A |
5: 37,437,947 (GRCm39) |
Y430* |
probably null |
Het |
| Dars1 |
A |
T |
1: 128,296,163 (GRCm39) |
V390D |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,853,555 (GRCm39) |
S85P |
probably damaging |
Het |
| Ermardl1 |
A |
G |
17: 15,242,364 (GRCm39) |
E416G |
unknown |
Het |
| Fancm |
C |
A |
12: 65,122,605 (GRCm39) |
D42E |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,423,122 (GRCm39) |
Y192F |
possibly damaging |
Het |
| Gpr3 |
A |
T |
4: 132,938,209 (GRCm39) |
Y154* |
probably null |
Het |
| Huwe1 |
G |
A |
X: 150,716,084 (GRCm39) |
R4331Q |
unknown |
Het |
| Ints5 |
C |
A |
19: 8,873,322 (GRCm39) |
P427Q |
possibly damaging |
Het |
| Jhy |
A |
T |
9: 40,828,823 (GRCm39) |
V361D |
probably benign |
Het |
| Klhl33 |
G |
A |
14: 51,130,322 (GRCm39) |
Q131* |
probably null |
Het |
| Lama2 |
A |
T |
10: 27,080,881 (GRCm39) |
C981S |
probably damaging |
Het |
| Mks1 |
C |
A |
11: 87,748,041 (GRCm39) |
L225I |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,055 (GRCm39) |
Y122N |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,343 (GRCm39) |
S402C |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,358 (GRCm39) |
I272T |
possibly damaging |
Het |
| Or4k50-ps1 |
A |
T |
2: 111,522,517 (GRCm39) |
Y218F |
unknown |
Het |
| Or51g2 |
T |
C |
7: 102,622,560 (GRCm39) |
D213G |
probably damaging |
Het |
| Pbx4 |
T |
A |
8: 70,316,999 (GRCm39) |
D85E |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,056,972 (GRCm39) |
E351* |
probably null |
Het |
| Rragd |
G |
A |
4: 32,996,083 (GRCm39) |
V143I |
probably damaging |
Het |
| Rsph14 |
A |
T |
10: 74,795,423 (GRCm39) |
M254K |
probably damaging |
Het |
| Selenoi |
C |
T |
5: 30,437,607 (GRCm39) |
|
probably benign |
Het |
| Six6 |
T |
C |
12: 72,986,935 (GRCm39) |
S36P |
|
Het |
| Slc12a8 |
T |
C |
16: 33,445,215 (GRCm39) |
S370P |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,432 (GRCm39) |
Y357H |
probably benign |
Het |
| Socs2 |
A |
T |
10: 95,248,948 (GRCm39) |
V55D |
probably damaging |
Het |
| Socs6 |
T |
C |
18: 88,888,852 (GRCm39) |
E21G |
probably benign |
Het |
| Spata31e4 |
C |
T |
13: 50,857,007 (GRCm39) |
Q882* |
probably null |
Het |
| Speg |
A |
T |
1: 75,365,076 (GRCm39) |
T486S |
possibly damaging |
Het |
| Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
T |
C |
16: 37,165,473 (GRCm39) |
K82E |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,825,155 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,440 (GRCm39) |
Y1074C |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,414,349 (GRCm39) |
S237P |
probably benign |
Het |
| Tbc1d5 |
C |
A |
17: 51,063,692 (GRCm39) |
M629I |
probably damaging |
Het |
| Tlr11 |
G |
A |
14: 50,598,749 (GRCm39) |
G245D |
probably damaging |
Het |
| Tspan4 |
T |
C |
7: 141,069,577 (GRCm39) |
V59A |
probably benign |
Het |
| Tulp4 |
T |
A |
17: 6,283,472 (GRCm39) |
V1167E |
possibly damaging |
Het |
| Usp42 |
G |
A |
5: 143,708,906 (GRCm39) |
T204M |
probably damaging |
Het |
| Vapb |
A |
G |
2: 173,617,948 (GRCm39) |
K147R |
possibly damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,422 (GRCm39) |
D32G |
probably benign |
Het |
| Vmn2r33 |
A |
G |
7: 7,554,168 (GRCm39) |
F795S |
probably damaging |
Het |
| Vmn2r34 |
A |
T |
7: 7,675,527 (GRCm39) |
N620K |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,643,626 (GRCm39) |
C2389F |
|
Het |
| Wdr81 |
T |
C |
11: 75,332,908 (GRCm39) |
E652G |
|
Het |
| Wdr81 |
A |
T |
11: 75,343,207 (GRCm39) |
S687T |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
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 |
|
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'- AAGGGGTCTACATTTGTCTTCC -3'
(R):5'- GTCCTCTGTATGAGAACTTCGG -3'
Sequencing Primer
(F):5'- CCTCTCTTGTTACAAGGTGTTTTG -3'
(R):5'- CTTCGGTTAAACCAGTCTAGGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation