Incidental Mutation 'R2288:Ces2a'
ID |
244181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces2a
|
Ensembl Gene |
ENSMUSG00000055730 |
Gene Name |
carboxylesterase 2A |
Synonyms |
9130231C15Rik, Ces6 |
MMRRC Submission |
040287-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R2288 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
105460635-105468266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105464069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 234
(S234P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034346]
[ENSMUST00000161824]
[ENSMUST00000164182]
|
AlphaFold |
Q8QZR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034346
AA Change: S234P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034346 Gene: ENSMUSG00000055730 AA Change: S234P
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
9 |
537 |
1.2e-171 |
PFAM |
Pfam:Abhydrolase_3
|
142 |
267 |
2.9e-11 |
PFAM |
Pfam:Peptidase_S9
|
156 |
347 |
7e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161824
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164182
AA Change: S234P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127346 Gene: ENSMUSG00000055730 AA Change: S234P
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
8 |
276 |
5e-110 |
PFAM |
Pfam:Abhydrolase_3
|
142 |
267 |
2.6e-11 |
PFAM |
Pfam:Peptidase_S9
|
156 |
275 |
3e-7 |
PFAM |
Pfam:COesterase
|
259 |
504 |
8.3e-47 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
T |
C |
17: 42,978,402 (GRCm39) |
T314A |
probably benign |
Het |
Cfh |
A |
T |
1: 140,026,639 (GRCm39) |
N571K |
possibly damaging |
Het |
Clasp1 |
A |
G |
1: 118,506,608 (GRCm39) |
I940V |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,909,563 (GRCm39) |
L1392S |
probably damaging |
Het |
Fbxw19 |
T |
A |
9: 109,322,636 (GRCm39) |
L111F |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Nek10 |
G |
T |
14: 14,853,956 (GRCm38) |
E381* |
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or5m3b |
T |
A |
2: 85,872,377 (GRCm39) |
C239* |
probably null |
Het |
Peg3 |
T |
C |
7: 6,712,114 (GRCm39) |
E1036G |
probably damaging |
Het |
Pgap4 |
A |
T |
4: 49,586,445 (GRCm39) |
L241Q |
probably damaging |
Het |
Psma3 |
T |
G |
12: 71,041,145 (GRCm39) |
D173E |
possibly damaging |
Het |
Ptpn14 |
T |
C |
1: 189,597,695 (GRCm39) |
L1135P |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,247,976 (GRCm39) |
I234V |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,735,886 (GRCm39) |
V1855A |
probably benign |
Het |
Tctn3 |
A |
T |
19: 40,594,157 (GRCm39) |
C419S |
probably damaging |
Het |
Tlr3 |
T |
A |
8: 45,850,705 (GRCm39) |
I207F |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,739,963 (GRCm39) |
R992S |
probably damaging |
Het |
V1ra8 |
T |
C |
6: 90,180,024 (GRCm39) |
S76P |
probably damaging |
Het |
Vnn3 |
A |
G |
10: 23,740,354 (GRCm39) |
D219G |
probably benign |
Het |
Zfp536 |
T |
A |
7: 37,179,773 (GRCm39) |
D944V |
probably damaging |
Het |
Zfp683 |
CGGG |
CCGGGGG |
4: 133,783,381 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ces2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01933:Ces2a
|
APN |
8 |
105,468,047 (GRCm39) |
makesense |
probably null |
|
IGL02135:Ces2a
|
APN |
8 |
105,466,813 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02529:Ces2a
|
APN |
8 |
105,463,851 (GRCm39) |
splice site |
probably benign |
|
IGL02625:Ces2a
|
APN |
8 |
105,466,910 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02869:Ces2a
|
APN |
8 |
105,465,691 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03265:Ces2a
|
APN |
8 |
105,464,075 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03349:Ces2a
|
APN |
8 |
105,460,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R0010:Ces2a
|
UTSW |
8 |
105,468,028 (GRCm39) |
missense |
probably benign |
0.00 |
R0318:Ces2a
|
UTSW |
8 |
105,467,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Ces2a
|
UTSW |
8 |
105,464,169 (GRCm39) |
missense |
probably damaging |
0.99 |
R0561:Ces2a
|
UTSW |
8 |
105,464,165 (GRCm39) |
missense |
probably benign |
0.35 |
R0619:Ces2a
|
UTSW |
8 |
105,462,742 (GRCm39) |
missense |
probably benign |
0.00 |
R1665:Ces2a
|
UTSW |
8 |
105,464,187 (GRCm39) |
splice site |
probably benign |
|
R1737:Ces2a
|
UTSW |
8 |
105,467,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R2266:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
R2267:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
R2269:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
R2656:Ces2a
|
UTSW |
8 |
105,462,766 (GRCm39) |
missense |
probably benign |
0.00 |
R3176:Ces2a
|
UTSW |
8 |
105,466,010 (GRCm39) |
splice site |
probably benign |
|
R3906:Ces2a
|
UTSW |
8 |
105,465,940 (GRCm39) |
missense |
probably benign |
0.00 |
R4344:Ces2a
|
UTSW |
8 |
105,463,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Ces2a
|
UTSW |
8 |
105,463,938 (GRCm39) |
missense |
probably benign |
0.14 |
R4780:Ces2a
|
UTSW |
8 |
105,463,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5434:Ces2a
|
UTSW |
8 |
105,464,041 (GRCm39) |
missense |
probably damaging |
0.98 |
R5763:Ces2a
|
UTSW |
8 |
105,462,756 (GRCm39) |
missense |
probably benign |
0.00 |
R5828:Ces2a
|
UTSW |
8 |
105,465,956 (GRCm39) |
missense |
probably benign |
0.00 |
R6359:Ces2a
|
UTSW |
8 |
105,462,710 (GRCm39) |
missense |
probably benign |
0.00 |
R6440:Ces2a
|
UTSW |
8 |
105,467,954 (GRCm39) |
missense |
probably benign |
0.12 |
R7066:Ces2a
|
UTSW |
8 |
105,466,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R7267:Ces2a
|
UTSW |
8 |
105,465,672 (GRCm39) |
missense |
probably benign |
0.20 |
R7395:Ces2a
|
UTSW |
8 |
105,466,273 (GRCm39) |
missense |
probably benign |
0.35 |
R7455:Ces2a
|
UTSW |
8 |
105,464,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7457:Ces2a
|
UTSW |
8 |
105,464,021 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7567:Ces2a
|
UTSW |
8 |
105,467,930 (GRCm39) |
missense |
probably benign |
0.01 |
R7683:Ces2a
|
UTSW |
8 |
105,463,744 (GRCm39) |
missense |
probably benign |
0.00 |
R8328:Ces2a
|
UTSW |
8 |
105,463,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8336:Ces2a
|
UTSW |
8 |
105,465,665 (GRCm39) |
missense |
probably damaging |
0.97 |
R9183:Ces2a
|
UTSW |
8 |
105,460,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9794:Ces2a
|
UTSW |
8 |
105,467,896 (GRCm39) |
missense |
probably benign |
0.16 |
X0022:Ces2a
|
UTSW |
8 |
105,462,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ces2a
|
UTSW |
8 |
105,461,482 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ces2a
|
UTSW |
8 |
105,460,638 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATGGGCAGCCACACTTTC -3'
(R):5'- TGCTGTCATAGAACATGCTCAG -3'
Sequencing Primer
(F):5'- GGGCAGCCACACTTTCTTCTTC -3'
(R):5'- TTCACTTAACTGAATACCAGAGCC -3'
|
Posted On |
2014-10-30 |