Incidental Mutation 'R5434:Ces2a'
| ID |
428213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2a
|
| Ensembl Gene |
ENSMUSG00000055730 |
| Gene Name |
carboxylesterase 2A |
| Synonyms |
9130231C15Rik, Ces6 |
| MMRRC Submission |
042999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105460635-105468266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105464041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 224
(F224L)
|
| 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: F224L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: F224L
| 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: F224L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: F224L
| 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 |
0.3459 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl6 |
G |
T |
9: 20,786,821 (GRCm39) |
Q301K |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,344,013 (GRCm39) |
Y323C |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 67,932,719 (GRCm39) |
H818L |
possibly damaging |
Het |
| Atg13 |
G |
T |
2: 91,515,110 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
C |
3: 36,929,665 (GRCm39) |
D94A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,611 (GRCm39) |
M245V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,999,926 (GRCm39) |
H228R |
probably benign |
Het |
| Col9a2 |
A |
T |
4: 120,898,162 (GRCm39) |
R25* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,302,744 (GRCm39) |
T137N |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,729,693 (GRCm39) |
N765S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,581,256 (GRCm39) |
Y3162C |
probably damaging |
Het |
| Dpf1 |
G |
T |
7: 29,010,756 (GRCm39) |
C123F |
possibly damaging |
Het |
| Flvcr1 |
C |
A |
1: 190,758,206 (GRCm39) |
A29S |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,106,033 (GRCm39) |
I560F |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,800 (GRCm39) |
V282I |
possibly damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,405 (GRCm39) |
C497S |
probably damaging |
Het |
| Gm20830 |
A |
T |
Y: 6,916,464 (GRCm39) |
Y218* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,310,375 (GRCm39) |
T3323N |
probably damaging |
Het |
| Idh1 |
T |
A |
1: 65,214,495 (GRCm39) |
Q6L |
probably benign |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,813 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnj10 |
T |
A |
1: 172,197,047 (GRCm39) |
V187E |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,124,957 (GRCm39) |
T404A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,660,880 (GRCm39) |
N76I |
probably damaging |
Het |
| Lrrc9 |
G |
A |
12: 72,500,862 (GRCm39) |
C196Y |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mgp |
T |
A |
6: 136,849,772 (GRCm39) |
N62I |
probably benign |
Het |
| Ms4a6c |
T |
A |
19: 11,448,588 (GRCm39) |
H40Q |
probably benign |
Het |
| Necab3 |
A |
G |
2: 154,389,379 (GRCm39) |
S121P |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,332,372 (GRCm39) |
K128* |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,067,861 (GRCm39) |
R486W |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,991 (GRCm39) |
K1525R |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,550 (GRCm39) |
K573R |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,968 (GRCm39) |
D1085Y |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rbm15 |
A |
G |
3: 107,237,783 (GRCm39) |
S872P |
possibly damaging |
Het |
| Retsat |
A |
G |
6: 72,578,518 (GRCm39) |
I77V |
probably damaging |
Het |
| Rpl32 |
A |
G |
6: 115,783,996 (GRCm39) |
F77L |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,624,814 (GRCm39) |
V2202D |
probably damaging |
Het |
| Sars2 |
G |
A |
7: 28,449,716 (GRCm39) |
R387Q |
probably null |
Het |
| Serpinb3d |
G |
T |
1: 107,006,263 (GRCm39) |
T275N |
probably benign |
Het |
| Sf3a1 |
C |
A |
11: 4,124,041 (GRCm39) |
P296Q |
probably damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,025,744 (GRCm39) |
|
probably benign |
Het |
| St3gal3 |
A |
G |
4: 117,797,247 (GRCm39) |
L332P |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,952,739 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,018,649 (GRCm39) |
S3383T |
probably damaging |
Het |
| Tektl1 |
A |
T |
10: 78,584,484 (GRCm39) |
L346* |
probably null |
Het |
| Tnfsf14 |
A |
G |
17: 57,499,592 (GRCm39) |
S87P |
probably benign |
Het |
| Trap1 |
T |
C |
16: 3,862,529 (GRCm39) |
D583G |
probably benign |
Het |
| Ube3d |
A |
T |
9: 86,309,460 (GRCm39) |
I212N |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,362,271 (GRCm39) |
D1572E |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,387 (GRCm39) |
T193S |
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,767,470 (GRCm39) |
V676L |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
C |
T |
3: 159,639,976 (GRCm39) |
R536C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,031 (GRCm39) |
D51G |
probably damaging |
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 |
|
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 |
|
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'- TTGGCTTCTTCAGGTAAGCC -3'
(R):5'- AGCCCCAAAGACTGAGGTAG -3'
Sequencing Primer
(F):5'- CTGGGACTGGGCTGTGTAAAAG -3'
(R):5'- AGCAAAGTAGGGGCTGTTGTTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation