Incidental Mutation 'R0477:Ces2a'
| ID |
41851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2a
|
| Ensembl Gene |
ENSMUSG00000055730 |
| Gene Name |
carboxylesterase 2A |
| Synonyms |
9130231C15Rik, Ces6 |
| MMRRC Submission |
038677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
105460635-105468266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105464169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 267
(E267G)
|
| 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: E267G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: E267G
| 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: E267G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: E267G
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
| Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
| Ap1b1 |
G |
T |
11: 4,981,787 (GRCm39) |
C538F |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
| C9 |
A |
T |
15: 6,487,664 (GRCm39) |
E43D |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
| Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
| Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
| Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
| Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
| Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
| Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
| Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
| Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
| Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
| Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
C |
A |
13: 65,338,720 (GRCm39) |
R639L |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
| Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
| Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,079,507 (GRCm39) |
I6T |
probably benign |
Het |
| Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
| Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
| Supv3l1 |
G |
T |
10: 62,266,364 (GRCm39) |
T604N |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
| Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
| Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R2288:Ces2a
|
UTSW |
8 |
105,464,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTCGCCATCCAGTATCGCTTG -3'
(R):5'- TGGGATTTTGCTAAGGACAGAAGCC -3'
Sequencing Primer
(F):5'- CTTCTTCAGGTAAGCCTGGGAC -3'
(R):5'- CCACTGGAGAGAGGTTTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation