Incidental Mutation 'R5792:Sytl2'
ID |
447023 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R5792 (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 90024897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 295
(D295V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147191
(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: D295V
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102828 Gene: ENSMUSG00000030616 AA Change: D295V
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: D295V
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102829 Gene: ENSMUSG00000030616 AA Change: D295V
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: D295V
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139865 Gene: ENSMUSG00000030616 AA Change: D295V
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: D268V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139450 Gene: ENSMUSG00000030616 AA Change: D268V
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: D295V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (56/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,945 (GRCm39) |
I296F |
possibly damaging |
Het |
Adamts19 |
C |
T |
18: 58,970,584 (GRCm39) |
T56M |
possibly damaging |
Het |
Axdnd1 |
T |
G |
1: 156,169,459 (GRCm39) |
E802D |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,938,048 (GRCm39) |
V2630A |
probably benign |
Het |
Capn5 |
A |
T |
7: 97,780,402 (GRCm39) |
F323I |
probably benign |
Het |
Ccn1 |
T |
C |
3: 145,354,413 (GRCm39) |
D166G |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,033,679 (GRCm39) |
E206G |
probably damaging |
Het |
Cmah |
T |
G |
13: 24,640,898 (GRCm39) |
N382K |
probably benign |
Het |
Col11a1 |
A |
T |
3: 113,925,242 (GRCm39) |
D25V |
probably damaging |
Het |
Cyp2d41-ps |
G |
T |
15: 82,663,421 (GRCm39) |
|
noncoding transcript |
Het |
Cyp3a59 |
A |
G |
5: 146,036,661 (GRCm39) |
K288E |
possibly damaging |
Het |
Dclre1a |
A |
C |
19: 56,518,022 (GRCm39) |
I1019S |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,153,151 (GRCm39) |
A3687D |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,110,804 (GRCm39) |
V944E |
unknown |
Het |
Galntl5 |
T |
C |
5: 25,403,461 (GRCm39) |
V177A |
possibly damaging |
Het |
Gm12695 |
T |
C |
4: 96,616,520 (GRCm39) |
T438A |
probably benign |
Het |
Gm14295 |
A |
T |
2: 176,502,807 (GRCm39) |
N766Y |
probably benign |
Het |
Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
Gm2431 |
C |
T |
7: 141,812,069 (GRCm39) |
G8E |
unknown |
Het |
Gm5435 |
T |
A |
12: 82,542,200 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Grip1 |
T |
C |
10: 119,821,385 (GRCm39) |
I350T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,717,829 (GRCm39) |
F196I |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,353,018 (GRCm39) |
D297E |
probably damaging |
Het |
Khdrbs2 |
G |
A |
1: 32,511,773 (GRCm39) |
R246Q |
probably damaging |
Het |
Layn |
T |
C |
9: 50,979,461 (GRCm39) |
E148G |
probably damaging |
Het |
Lrig3 |
T |
A |
10: 125,845,788 (GRCm39) |
V739E |
probably damaging |
Het |
Lyg1 |
A |
G |
1: 37,986,348 (GRCm39) |
W129R |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,164 (GRCm39) |
T1567I |
probably damaging |
Het |
Nus1 |
T |
A |
10: 52,305,352 (GRCm39) |
L12* |
probably null |
Het |
Odad2 |
T |
C |
18: 7,217,965 (GRCm39) |
N583S |
probably benign |
Het |
Or1n2 |
A |
G |
2: 36,797,113 (GRCm39) |
I52V |
probably benign |
Het |
Or6a2 |
A |
T |
7: 106,600,650 (GRCm39) |
V139D |
possibly damaging |
Het |
Otop1 |
A |
G |
5: 38,455,260 (GRCm39) |
N218S |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,299 (GRCm39) |
N90K |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,973,518 (GRCm39) |
|
probably null |
Het |
Piezo2 |
T |
A |
18: 63,279,927 (GRCm39) |
I215F |
probably damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,268,384 (GRCm39) |
C553* |
probably null |
Het |
Prdm1 |
A |
G |
10: 44,326,224 (GRCm39) |
V115A |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,634,616 (GRCm39) |
D3587G |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,569,890 (GRCm39) |
Y883* |
probably null |
Het |
Sh3rf2 |
A |
C |
18: 42,244,203 (GRCm39) |
H223P |
probably damaging |
Het |
Slco1a5 |
C |
T |
6: 142,187,839 (GRCm39) |
C500Y |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,214,856 (GRCm39) |
H610L |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,130,492 (GRCm39) |
*244W |
probably null |
Het |
Tnfrsf1a |
T |
A |
6: 125,335,040 (GRCm39) |
C44S |
probably damaging |
Het |
Ttc6 |
T |
G |
12: 57,719,990 (GRCm39) |
L854V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,596,602 (GRCm39) |
I18358V |
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,683,398 (GRCm39) |
V602A |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,818,090 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,303 (GRCm39) |
E1227G |
possibly damaging |
Het |
Znhit3 |
G |
A |
11: 84,806,910 (GRCm39) |
|
probably null |
Het |
Zpbp2 |
A |
G |
11: 98,442,236 (GRCm39) |
|
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 |
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 |
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'- ACAGAGCCTGAAAATGCGTC -3'
(R):5'- AGTAAATTCTCCCACTTCCTGG -3'
Sequencing Primer
(F):5'- GAGCCTGAAAATGCGTCTCATAC -3'
(R):5'- TGGCCAAGGACGGGTCTAG -3'
|
Posted On |
2016-12-15 |