Incidental Mutation 'R4870:Sytl2'
ID |
376505 |
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 |
042480-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R4870 (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 90038106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 522
(N522I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000208720]
|
AlphaFold |
Q99N50 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098310
|
SMART Domains |
Protein: ENSMUSP00000095912 Gene: ENSMUSG00000030616
Domain | Start | End | E-Value | Type |
low complexity region
|
938 |
966 |
N/A |
INTRINSIC |
C2
|
990 |
1095 |
4.59e-15 |
SMART |
C2
|
1139 |
1242 |
6.44e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107210
AA Change: N549I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102828 Gene: ENSMUSG00000030616 AA Change: N549I
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 |
noncoding transcript
Transcript: ENSMUST00000190365
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190731
AA Change: N549I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139865 Gene: ENSMUSG00000030616 AA Change: N549I
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: N522I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139450 Gene: ENSMUSG00000030616 AA Change: N522I
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: ENSMUST00000207064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208486
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207629
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209188
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208580
|
Meta Mutation Damage Score |
0.1380 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
100% (77/77) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,069,540 (GRCm39) |
I1285N |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,756,683 (GRCm39) |
R721* |
probably null |
Het |
Alox8 |
T |
C |
11: 69,077,394 (GRCm39) |
Y423C |
probably damaging |
Het |
Ankle2 |
T |
A |
5: 110,399,344 (GRCm39) |
|
probably null |
Het |
Cdc14a |
A |
G |
3: 116,217,109 (GRCm39) |
I9T |
probably benign |
Het |
Ceacam18 |
T |
C |
7: 43,291,328 (GRCm39) |
C257R |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,186,980 (GRCm39) |
V1025A |
probably damaging |
Het |
Clcn7 |
G |
T |
17: 25,372,539 (GRCm39) |
|
probably benign |
Het |
Csnk1d |
A |
T |
11: 120,874,014 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
A |
G |
15: 74,724,995 (GRCm39) |
S285P |
probably benign |
Het |
Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
Dmrt1 |
T |
A |
19: 25,483,219 (GRCm39) |
M1K |
probably null |
Het |
Dnajc14 |
T |
C |
10: 128,653,219 (GRCm39) |
V684A |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,512,284 (GRCm39) |
Q335R |
probably benign |
Het |
Exoc3l2 |
T |
A |
7: 19,229,117 (GRCm39) |
C772S |
unknown |
Het |
F2rl1 |
A |
T |
13: 95,650,492 (GRCm39) |
F130Y |
probably damaging |
Het |
Galk2 |
C |
G |
2: 125,771,557 (GRCm39) |
S194* |
probably null |
Het |
Garre1 |
C |
A |
7: 33,984,312 (GRCm39) |
V104L |
possibly damaging |
Het |
Gpbp1l1 |
A |
G |
4: 116,430,714 (GRCm39) |
T62A |
probably benign |
Het |
H2-Q10 |
A |
T |
17: 35,781,357 (GRCm39) |
D53V |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,349,924 (GRCm39) |
K356R |
probably benign |
Het |
Insrr |
G |
A |
3: 87,718,911 (GRCm39) |
V956M |
probably damaging |
Het |
Ints7 |
A |
G |
1: 191,328,443 (GRCm39) |
T239A |
probably damaging |
Het |
Isl1 |
A |
G |
13: 116,444,806 (GRCm39) |
|
probably benign |
Het |
Kcng2 |
A |
G |
18: 80,366,083 (GRCm39) |
C90R |
probably benign |
Het |
Kif3c |
C |
T |
12: 3,451,735 (GRCm39) |
P171S |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,911,994 (GRCm39) |
T1704A |
probably benign |
Het |
Lats1 |
A |
G |
10: 7,581,549 (GRCm39) |
Y778C |
probably damaging |
Het |
Limd2 |
T |
C |
11: 106,050,215 (GRCm39) |
M1V |
probably null |
Het |
Mcm10 |
A |
T |
2: 5,008,970 (GRCm39) |
I333N |
probably damaging |
Het |
Mipep |
T |
A |
14: 61,040,329 (GRCm39) |
L283* |
probably null |
Het |
Mixl1 |
A |
G |
1: 180,522,237 (GRCm39) |
S215P |
probably benign |
Het |
Mmp21 |
A |
G |
7: 133,280,406 (GRCm39) |
L188P |
probably damaging |
Het |
Mob1a |
T |
C |
6: 83,317,221 (GRCm39) |
S213P |
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Ndufaf6 |
T |
C |
4: 11,060,917 (GRCm39) |
T220A |
probably benign |
Het |
Nr4a3 |
A |
T |
4: 48,051,651 (GRCm39) |
Y135F |
possibly damaging |
Het |
Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 59,027,032 (GRCm39) |
L57Q |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,804 (GRCm39) |
L246P |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,715,661 (GRCm39) |
M839L |
probably benign |
Het |
Plcl2 |
A |
G |
17: 50,914,254 (GRCm39) |
E421G |
possibly damaging |
Het |
Ppp1r12b |
T |
C |
1: 134,876,771 (GRCm39) |
N99S |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,776 (GRCm39) |
K370* |
probably null |
Het |
Simc1 |
A |
G |
13: 54,687,576 (GRCm39) |
D115G |
probably null |
Het |
Stab1 |
T |
A |
14: 30,864,000 (GRCm39) |
N136I |
probably benign |
Het |
Syt4 |
T |
A |
18: 31,580,409 (GRCm39) |
|
probably benign |
Het |
Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,969,396 (GRCm39) |
D847E |
probably damaging |
Het |
Th |
G |
T |
7: 142,447,834 (GRCm39) |
D321E |
probably benign |
Het |
Tmem44 |
A |
T |
16: 30,359,591 (GRCm39) |
L46Q |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,087,122 (GRCm39) |
L178P |
probably damaging |
Het |
Trp63 |
A |
G |
16: 25,684,968 (GRCm39) |
*285W |
probably null |
Het |
Tsen34 |
T |
C |
7: 3,697,380 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
C |
T |
14: 55,889,272 (GRCm39) |
T256I |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,196,954 (GRCm39) |
N464K |
probably damaging |
Het |
Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,895,177 (GRCm39) |
E741G |
probably damaging |
Het |
Urad |
T |
A |
5: 147,252,264 (GRCm39) |
I63F |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,858 (GRCm39) |
T701A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,486,639 (GRCm39) |
V752A |
possibly damaging |
Het |
Vmn2r69 |
C |
A |
7: 85,060,793 (GRCm39) |
V264L |
possibly damaging |
Het |
Zfp292 |
A |
G |
4: 34,808,917 (GRCm39) |
S1376P |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
Znfx1 |
A |
C |
2: 166,897,189 (GRCm39) |
F578L |
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 |
|
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 |
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'- CAAGCTGAAAACCTGTCAGAG -3'
(R):5'- CTTCAGATACACAAGTCTCCTTTAGTG -3'
Sequencing Primer
(F):5'- CAGAGGAACTCTGCAACTT -3'
(R):5'- TGCCAGCTTTGGAGATAT -3'
|
Posted On |
2016-03-17 |