Incidental Mutation 'R6378:Sytl2'
| ID |
515122 |
| 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 |
044528-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R6378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 90007432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 65
(K65*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000207578]
[ENSMUST00000208720]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107210
AA Change: K65*
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: K65*
| 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 null
Transcript: ENSMUST00000107211
AA Change: K65*
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: K65*
| 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 null
Transcript: ENSMUST00000190731
AA Change: K65*
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: K65*
| 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 null
Transcript: ENSMUST00000190837
AA Change: K65*
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: K65*
| 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 null
Transcript: ENSMUST00000207578
AA Change: K65*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208720
AA Change: K65*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
A |
T |
15: 72,995,774 (GRCm39) |
D408E |
probably benign |
Het |
| Agpat2 |
T |
C |
2: 26,486,147 (GRCm39) |
N178S |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,049,573 (GRCm39) |
F152S |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,367 (GRCm39) |
L1163Q |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,072 (GRCm39) |
L385Q |
possibly damaging |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,579 (GRCm39) |
L2P |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,360 (GRCm39) |
T189A |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,921,561 (GRCm39) |
D567V |
possibly damaging |
Het |
| Cdh5 |
T |
A |
8: 104,853,168 (GRCm39) |
|
probably null |
Het |
| Cela1 |
C |
T |
15: 100,585,071 (GRCm39) |
V20I |
probably benign |
Het |
| Cmpk2 |
G |
A |
12: 26,519,415 (GRCm39) |
G22E |
possibly damaging |
Het |
| Ctcf |
T |
A |
8: 106,390,423 (GRCm39) |
V10E |
possibly damaging |
Het |
| Dpp10 |
C |
A |
1: 123,339,468 (GRCm39) |
C353F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,999,620 (GRCm39) |
S5546G |
possibly damaging |
Het |
| Elp3 |
G |
T |
14: 65,830,420 (GRCm39) |
Y10* |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,755,646 (GRCm39) |
W336R |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,529,780 (GRCm39) |
|
probably null |
Het |
| Eya1 |
T |
C |
1: 14,373,027 (GRCm39) |
N31D |
possibly damaging |
Het |
| Fam81a |
T |
A |
9: 70,017,628 (GRCm39) |
N106Y |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,694,639 (GRCm39) |
T487A |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,264,307 (GRCm39) |
M420T |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,116 (GRCm39) |
E234V |
probably damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,570,146 (GRCm39) |
N400S |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,229,377 (GRCm39) |
S98G |
probably benign |
Het |
| Hoxd10 |
T |
C |
2: 74,524,678 (GRCm39) |
I330T |
possibly damaging |
Het |
| Ik |
T |
A |
18: 36,890,341 (GRCm39) |
I539N |
probably damaging |
Het |
| Il17rb |
G |
A |
14: 29,722,320 (GRCm39) |
T237I |
probably damaging |
Het |
| Ing2 |
T |
A |
8: 48,122,293 (GRCm39) |
Q85L |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,324,174 (GRCm39) |
N1208K |
probably benign |
Het |
| Lvrn |
T |
A |
18: 47,028,024 (GRCm39) |
S888R |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,488 (GRCm39) |
V1126A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,677,233 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,021 (GRCm39) |
D581G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,599,320 (GRCm39) |
V3289A |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,149,356 (GRCm39) |
I609N |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,433 (GRCm39) |
M1343K |
probably damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,207 (GRCm39) |
I302V |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,183,733 (GRCm39) |
K978N |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,820,831 (GRCm39) |
E878G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,097,016 (GRCm39) |
I928N |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,741,910 (GRCm39) |
D145E |
probably benign |
Het |
| Obox3 |
T |
A |
7: 15,360,027 (GRCm39) |
H214L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,964,572 (GRCm39) |
E3199G |
probably damaging |
Het |
| Ogfod3 |
T |
C |
11: 121,093,761 (GRCm39) |
E83G |
probably benign |
Het |
| Or11a4 |
T |
A |
17: 37,536,688 (GRCm39) |
V224E |
probably benign |
Het |
| Or2r3 |
T |
G |
6: 42,448,687 (GRCm39) |
M142L |
probably benign |
Het |
| Or6b2 |
A |
G |
1: 92,408,178 (GRCm39) |
L55P |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,425 (GRCm39) |
V78A |
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,164,809 (GRCm39) |
H69N |
probably benign |
Het |
| Plcl2 |
C |
T |
17: 50,975,188 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,898 (GRCm39) |
I534T |
probably damaging |
Het |
| Prss23 |
A |
T |
7: 89,159,241 (GRCm39) |
I276N |
probably damaging |
Het |
| Ramac |
A |
G |
7: 81,417,387 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rhd |
T |
A |
4: 134,621,696 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Scg5 |
A |
G |
2: 113,657,737 (GRCm39) |
V58A |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,315,102 (GRCm39) |
G1868R |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,610,245 (GRCm39) |
S225P |
possibly damaging |
Het |
| Sema4f |
A |
T |
6: 82,894,613 (GRCm39) |
L486* |
probably null |
Het |
| Slc25a47 |
G |
A |
12: 108,822,069 (GRCm39) |
R286H |
probably damaging |
Het |
| Slc5a8 |
A |
C |
10: 88,740,916 (GRCm39) |
K277T |
probably damaging |
Het |
| Slc66a3 |
T |
C |
12: 17,047,644 (GRCm39) |
Y96C |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,213,615 (GRCm39) |
E704V |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,908,527 (GRCm39) |
S1768P |
probably damaging |
Het |
| Srd5a2 |
C |
T |
17: 74,328,378 (GRCm39) |
|
probably null |
Het |
| Tas2r109 |
T |
G |
6: 132,957,844 (GRCm39) |
I29L |
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,876,717 (GRCm39) |
V234E |
possibly damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,325,679 (GRCm39) |
L128F |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,082 (GRCm39) |
L150Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,967,452 (GRCm39) |
I395L |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,373,474 (GRCm39) |
E232K |
probably benign |
Het |
| Vax1 |
T |
C |
19: 59,154,656 (GRCm39) |
N327S |
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,587 (GRCm39) |
V11A |
probably benign |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,782 (GRCm39) |
V106A |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,498,667 (GRCm39) |
S415G |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,182,517 (GRCm39) |
G394D |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,179 (GRCm39) |
E63G |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,410 (GRCm39) |
N545K |
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,892,217 (GRCm39) |
T56A |
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 |
|
R5792:Sytl2
|
UTSW |
7 |
90,024,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GTGGCACATAAATTAGGAAGAGCTTC -3'
(R):5'- GGCCATACACTATGCAAAGC -3'
Sequencing Primer
(F):5'- AGGAAGAGCTTCATTTTGCCTG -3'
(R):5'- TGCAAAGCATAGCCAGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation