Incidental Mutation 'R6607:Esyt2'
ID |
525759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esyt2
|
Ensembl Gene |
ENSMUSG00000021171 |
Gene Name |
extended synaptotagmin-like protein 2 |
Synonyms |
2310058N22Rik, D12Ertd551e, 2410017M09Rik, Fam62b, 4921504I16Rik |
MMRRC Submission |
044730-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6607 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116244816-116354670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 116332360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 781
(D781N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100986]
[ENSMUST00000220720]
[ENSMUST00000220816]
|
AlphaFold |
Q3TZZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100986
AA Change: D781N
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098548 Gene: ENSMUSG00000021171 AA Change: D781N
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
Pfam:SMP_LBD
|
115 |
294 |
3e-125 |
PFAM |
C2
|
310 |
412 |
1.39e-14 |
SMART |
C2
|
461 |
556 |
2.59e-14 |
SMART |
low complexity region
|
660 |
669 |
N/A |
INTRINSIC |
C2
|
726 |
831 |
5.51e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220720
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220816
AA Change: D781N
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223150
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223181
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
96% (27/28) |
MGI Phenotype |
PHENOTYPE: Mice are viable and fertile without overt morphological defects except reduced FGF-stimulated mouse embryonic fibroblast migration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,507 (GRCm39) |
D92G |
possibly damaging |
Het |
Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,163,128 (GRCm39) |
D172G |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
Fbxo15 |
A |
T |
18: 84,977,270 (GRCm39) |
T106S |
possibly damaging |
Het |
Foxq1 |
A |
G |
13: 31,743,129 (GRCm39) |
D77G |
possibly damaging |
Het |
Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Rbks |
C |
T |
5: 31,805,136 (GRCm39) |
V243M |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
Vmn1r203 |
A |
G |
13: 22,708,891 (GRCm39) |
Y224C |
probably benign |
Het |
Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
possibly damaging |
Het |
|
Other mutations in Esyt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00591:Esyt2
|
APN |
12 |
116,327,064 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01636:Esyt2
|
APN |
12 |
116,329,550 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01912:Esyt2
|
APN |
12 |
116,303,229 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02310:Esyt2
|
APN |
12 |
116,329,541 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4802001:Esyt2
|
UTSW |
12 |
116,329,457 (GRCm39) |
missense |
probably benign |
0.00 |
R0134:Esyt2
|
UTSW |
12 |
116,331,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R0225:Esyt2
|
UTSW |
12 |
116,331,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R0313:Esyt2
|
UTSW |
12 |
116,311,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Esyt2
|
UTSW |
12 |
116,320,818 (GRCm39) |
splice site |
probably benign |
|
R2324:Esyt2
|
UTSW |
12 |
116,331,441 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4610:Esyt2
|
UTSW |
12 |
116,282,510 (GRCm39) |
missense |
probably damaging |
0.99 |
R4898:Esyt2
|
UTSW |
12 |
116,305,708 (GRCm39) |
missense |
probably benign |
0.06 |
R4918:Esyt2
|
UTSW |
12 |
116,287,760 (GRCm39) |
missense |
probably benign |
0.30 |
R5052:Esyt2
|
UTSW |
12 |
116,331,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R5222:Esyt2
|
UTSW |
12 |
116,282,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R5800:Esyt2
|
UTSW |
12 |
116,333,808 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6499:Esyt2
|
UTSW |
12 |
116,284,790 (GRCm39) |
missense |
probably damaging |
0.98 |
R6951:Esyt2
|
UTSW |
12 |
116,287,750 (GRCm39) |
missense |
probably benign |
0.21 |
R7153:Esyt2
|
UTSW |
12 |
116,310,128 (GRCm39) |
missense |
probably benign |
0.00 |
R7173:Esyt2
|
UTSW |
12 |
116,327,154 (GRCm39) |
missense |
probably benign |
0.05 |
R7227:Esyt2
|
UTSW |
12 |
116,305,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Esyt2
|
UTSW |
12 |
116,305,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Esyt2
|
UTSW |
12 |
116,329,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R7780:Esyt2
|
UTSW |
12 |
116,305,718 (GRCm39) |
missense |
probably benign |
0.15 |
R8077:Esyt2
|
UTSW |
12 |
116,305,848 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8136:Esyt2
|
UTSW |
12 |
116,327,079 (GRCm39) |
missense |
probably benign |
|
R8264:Esyt2
|
UTSW |
12 |
116,329,540 (GRCm39) |
missense |
probably benign |
0.00 |
R8350:Esyt2
|
UTSW |
12 |
116,327,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R8450:Esyt2
|
UTSW |
12 |
116,327,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R9330:Esyt2
|
UTSW |
12 |
116,305,765 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGTTGGCCCAGTTCTG -3'
(R):5'- ATTAGAGTGAGCCTCCCTTCCC -3'
Sequencing Primer
(F):5'- AGTTCTGTTTCTTCCTTAGGGCAC -3'
(R):5'- GAGCCTCCCTTCCCACTATGTAAG -3'
|
Posted On |
2018-06-22 |