Incidental Mutation 'R8136:Esyt2'
ID |
632270 |
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 |
067564-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8136 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116244816-116354670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116327079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 549
(T549K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100986]
[ENSMUST00000220720]
[ENSMUST00000220816]
|
AlphaFold |
Q3TZZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100986
AA Change: T549K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098548 Gene: ENSMUSG00000021171 AA Change: T549K
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: T549K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
Btnl1 |
T |
A |
17: 34,599,014 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
Mta1 |
C |
A |
12: 113,095,298 (GRCm39) |
R484S |
probably damaging |
Het |
Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
Pigb |
A |
G |
9: 72,929,602 (GRCm39) |
L327P |
possibly damaging |
Het |
Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
probably damaging |
Het |
Zfp777 |
C |
A |
6: 48,021,559 (GRCm39) |
R21L |
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 |
|
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 |
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 |
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'- ACCTAACAGTTTTGGACACACTAC -3'
(R):5'- TGCCTGTAGAACCACCTCTG -3'
Sequencing Primer
(F):5'- ACATATTGTGTTTTCTTTTGTGCTG -3'
(R):5'- TCTGCAAGGCTGGGACTGAG -3'
|
Posted On |
2020-06-30 |