Incidental Mutation 'R5222:Esyt2'
ID |
402380 |
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 |
042795-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116244816-116354670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116282446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 132
(F132S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100986]
[ENSMUST00000220720]
[ENSMUST00000220816]
|
AlphaFold |
Q3TZZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100986
AA Change: F132S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098548 Gene: ENSMUSG00000021171 AA Change: F132S
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 damaging
Transcript: ENSMUST00000220720
AA Change: F132S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220754
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220816
AA Change: F132S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221584
|
Meta Mutation Damage Score |
0.2444 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (52/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,539,730 (GRCm39) |
Y43C |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
Pramel28 |
T |
A |
4: 143,691,362 (GRCm39) |
I454F |
possibly damaging |
Het |
Prrx1 |
C |
T |
1: 163,089,542 (GRCm39) |
R95Q |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,887,044 (GRCm39) |
Q19R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
Uspl1 |
C |
A |
5: 149,150,911 (GRCm39) |
Q690K |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
probably null |
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 |
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'- GCAGCATATTGGCTAATCAGTAG -3'
(R):5'- CTACTGTGTGCATGAGGAAGG -3'
Sequencing Primer
(F):5'- CACATTTTGCAGGACTGATTTTG -3'
(R):5'- TGCATGAGGAAGGGCAGAACTG -3'
|
Posted On |
2016-07-22 |