Incidental Mutation 'R2324:Esyt2'
ID |
244858 |
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 |
040315-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2324 (G1)
|
Quality Score |
152 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116244816-116354670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116331441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 773
(N773S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100986]
[ENSMUST00000220720]
[ENSMUST00000220816]
|
AlphaFold |
Q3TZZ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100986
AA Change: N773S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098548 Gene: ENSMUSG00000021171 AA Change: N773S
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 |
possibly damaging
Transcript: ENSMUST00000220816
AA Change: N773S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223150
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223181
|
Meta Mutation Damage Score |
0.6462 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (33/33) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
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 |
R6607:Esyt2
|
UTSW |
12 |
116,332,360 (GRCm39) |
missense |
probably benign |
0.18 |
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'- GATGTGTGTTGCTCCAGATAATATG -3'
(R):5'- CCTCTGCTTGAAGGTCAAAAGC -3'
Sequencing Primer
(F):5'- GTGTTGCTCCAGATAATATGAAGTC -3'
(R):5'- GCTTCTTGACTTATTTAACAAGCGAC -3'
|
Posted On |
2014-10-30 |