Incidental Mutation 'R9573:Sytl2'
| ID |
722115 |
| 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: 0.384)
|
| Stock # |
R9573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90057599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 846
(Q846R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107210
AA Change: Q806R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: Q806R
| 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 damaging
Transcript: ENSMUST00000107211
AA Change: Q830R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: Q830R
| 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 damaging
Transcript: ENSMUST00000190731
AA Change: Q846R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: Q846R
| 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: Q819R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: Q819R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,050,229 (GRCm39) |
V472E |
probably damaging |
Het |
| Ak3 |
T |
C |
19: 29,003,667 (GRCm39) |
I170V |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,791,977 (GRCm39) |
L1058* |
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,791 (GRCm39) |
V243A |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arid3c |
T |
G |
4: 41,726,003 (GRCm39) |
E200A |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,566,591 (GRCm39) |
I856L |
probably benign |
Het |
| Bcs1l |
C |
A |
1: 74,629,492 (GRCm39) |
R177S |
probably damaging |
Het |
| Bin2 |
A |
T |
15: 100,560,433 (GRCm39) |
F43I |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,600,544 (GRCm39) |
L691P |
probably damaging |
Het |
| Bud23 |
C |
T |
5: 135,082,274 (GRCm39) |
V266I |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,629 (GRCm39) |
I333L |
probably benign |
Het |
| Cavin2 |
T |
A |
1: 51,328,795 (GRCm39) |
I84N |
probably damaging |
Het |
| Ccdc168 |
A |
C |
1: 44,095,307 (GRCm39) |
Y1930* |
probably null |
Het |
| Ccdc196 |
A |
T |
12: 78,244,098 (GRCm39) |
N17I |
|
Het |
| Cep170b |
T |
A |
12: 112,691,154 (GRCm39) |
F24I |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,302 (GRCm39) |
Y719C |
unknown |
Het |
| Commd7 |
A |
G |
2: 153,463,981 (GRCm39) |
M137T |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,657,910 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
C |
14: 26,414,619 (GRCm39) |
T7P |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,373,094 (GRCm39) |
I548N |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,292,247 (GRCm39) |
L7Q |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,802,662 (GRCm39) |
V477M |
probably damaging |
Het |
| Glis2 |
C |
T |
16: 4,429,505 (GRCm39) |
R211C |
probably damaging |
Het |
| Gm4744 |
A |
T |
6: 40,925,497 (GRCm39) |
V122D |
|
Het |
| Gm4952 |
G |
A |
19: 12,604,090 (GRCm39) |
M167I |
probably benign |
Het |
| Hyal4 |
T |
C |
6: 24,756,508 (GRCm39) |
V242A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,857,646 (GRCm39) |
S131A |
probably benign |
Het |
| Il4ra |
T |
A |
7: 125,169,158 (GRCm39) |
S137T |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,573,471 (GRCm39) |
L742Q |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,185 (GRCm39) |
K315R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,979,774 (GRCm39) |
Y1258H |
probably damaging |
Het |
| Mapk9 |
A |
T |
11: 49,769,239 (GRCm39) |
K290N |
probably damaging |
Het |
| Mfhas1 |
C |
T |
8: 36,143,903 (GRCm39) |
H1045Y |
possibly damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,036 (GRCm39) |
Q90K |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,771,841 (GRCm39) |
V157E |
probably benign |
Het |
| Npas4 |
A |
G |
19: 5,035,837 (GRCm39) |
F776L |
probably benign |
Het |
| Nuggc |
A |
C |
14: 65,848,603 (GRCm39) |
D184A |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,066,678 (GRCm39) |
E795G |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,509 (GRCm39) |
I189T |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,940 (GRCm39) |
I98L |
probably benign |
Het |
| Pcbp1 |
A |
T |
6: 86,502,677 (GRCm39) |
M74K |
possibly damaging |
Het |
| Plk4 |
A |
G |
3: 40,763,257 (GRCm39) |
D476G |
probably benign |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Rab44 |
A |
T |
17: 29,364,277 (GRCm39) |
Y617F |
unknown |
Het |
| Rabepk |
T |
C |
2: 34,675,627 (GRCm39) |
R168G |
probably benign |
Het |
| Rbmyf9 |
T |
A |
Y: 3,775,370 (GRCm39) |
M40K |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,000,466 (GRCm39) |
S1307A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,467 (GRCm39) |
V542I |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,159 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,304,225 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc24a3 |
T |
G |
2: 145,455,548 (GRCm39) |
M479R |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,589 (GRCm39) |
F723S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,927,134 (GRCm39) |
N93K |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,833,140 (GRCm39) |
H247P |
probably benign |
Het |
| Tcstv3 |
T |
C |
13: 120,779,130 (GRCm39) |
S10P |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,934,606 (GRCm39) |
N124S |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,933 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,484 (GRCm39) |
G114S |
possibly damaging |
Het |
| Trim38 |
G |
A |
13: 23,966,688 (GRCm39) |
C45Y |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,404 (GRCm39) |
E668G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,148,450 (GRCm39) |
M382K |
|
Het |
| Vps39 |
T |
C |
2: 120,155,179 (GRCm39) |
E549G |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,078,014 (GRCm39) |
G1135D |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,548 (GRCm39) |
L388P |
probably benign |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,307 (GRCm39) |
M214K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,602,936 (GRCm39) |
E627K |
possibly 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 |
|
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 |
|
R9583:Sytl2
|
UTSW |
7 |
90,024,800 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGTTCTGCTTGCCAGGG -3'
(R):5'- TACCTGTTCCAAAGCCGATC -3'
Sequencing Primer
(F):5'- TTCTGCATGGCTACAGAGAC -3'
(R):5'- CCGGAGACCTCCCAGAAACTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation