Incidental Mutation 'R7683:Ces2a'
| ID |
592877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2a
|
| Ensembl Gene |
ENSMUSG00000055730 |
| Gene Name |
carboxylesterase 2A |
| Synonyms |
9130231C15Rik, Ces6 |
| MMRRC Submission |
045749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105460635-105468266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105463744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034346]
[ENSMUST00000161824]
[ENSMUST00000164182]
|
| AlphaFold |
Q8QZR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034346
AA Change: V152A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: V152A
| 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 benign
Transcript: ENSMUST00000164182
AA Change: V152A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: V152A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
G |
13: 59,660,312 (GRCm39) |
C305R |
probably damaging |
Het |
| Anpep |
C |
A |
7: 79,488,946 (GRCm39) |
V381L |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,627 (GRCm39) |
L146P |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,629,690 (GRCm39) |
I599V |
probably damaging |
Het |
| Arpc2 |
T |
C |
1: 74,302,973 (GRCm39) |
Y250H |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,246,582 (GRCm39) |
M677K |
probably damaging |
Het |
| Begain |
C |
T |
12: 108,999,413 (GRCm39) |
A453T |
unknown |
Het |
| C1ql4 |
T |
C |
15: 98,985,092 (GRCm39) |
D173G |
probably benign |
Het |
| Card11 |
T |
G |
5: 140,881,781 (GRCm39) |
N461T |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,018,287 (GRCm39) |
D7G |
probably damaging |
Het |
| Chl1 |
G |
A |
6: 103,668,613 (GRCm39) |
A449T |
possibly damaging |
Het |
| Col11a1 |
G |
T |
3: 113,907,385 (GRCm39) |
G638W |
unknown |
Het |
| Cse1l |
A |
T |
2: 166,764,708 (GRCm39) |
T171S |
probably benign |
Het |
| D2hgdh |
T |
A |
1: 93,766,687 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
C |
11: 69,930,680 (GRCm39) |
Y432H |
possibly damaging |
Het |
| Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,702,545 (GRCm39) |
Q251L |
probably damaging |
Het |
| Gtf2f1 |
T |
A |
17: 57,312,458 (GRCm39) |
E195V |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,242,374 (GRCm39) |
L376Q |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,921,289 (GRCm39) |
I234N |
probably damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,535,063 (GRCm39) |
V29A |
probably benign |
Het |
| Hp |
C |
T |
8: 110,305,731 (GRCm39) |
|
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,456,748 (GRCm39) |
S10P |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,576,438 (GRCm39) |
V792A |
probably benign |
Het |
| Kif13b |
G |
A |
14: 64,994,956 (GRCm39) |
V903I |
probably benign |
Het |
| Lars2 |
G |
T |
9: 123,206,895 (GRCm39) |
|
probably null |
Het |
| Med7 |
A |
G |
11: 46,331,687 (GRCm39) |
D94G |
possibly damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,846 (GRCm39) |
T136A |
probably benign |
Het |
| Nin |
T |
C |
12: 70,124,956 (GRCm39) |
E122G |
|
Het |
| Or5h18 |
G |
T |
16: 58,847,469 (GRCm39) |
T267K |
probably benign |
Het |
| Or6k14 |
A |
G |
1: 173,927,042 (GRCm39) |
Q6R |
probably benign |
Het |
| Oxsr1 |
T |
C |
9: 119,070,821 (GRCm39) |
I489V |
probably benign |
Het |
| Pdcd6ip |
A |
T |
9: 113,516,763 (GRCm39) |
L216Q |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,553,364 (GRCm39) |
C379* |
probably null |
Het |
| Pramel24 |
A |
T |
4: 143,453,284 (GRCm39) |
K131* |
probably null |
Het |
| Ptpn13 |
T |
A |
5: 103,713,018 (GRCm39) |
C1714S |
probably benign |
Het |
| Pum2 |
G |
A |
12: 8,778,922 (GRCm39) |
R498Q |
possibly damaging |
Het |
| Sema3d |
T |
A |
5: 12,623,823 (GRCm39) |
Y577* |
probably null |
Het |
| Slc29a3 |
G |
A |
10: 60,552,145 (GRCm39) |
P300S |
not run |
Het |
| Slc5a4b |
A |
G |
10: 75,899,906 (GRCm39) |
V444A |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,696,685 (GRCm39) |
E250G |
probably damaging |
Het |
| Srsf7 |
A |
G |
17: 80,514,703 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,523,683 (GRCm39) |
Y239C |
probably damaging |
Het |
| Triml2 |
C |
A |
8: 43,638,325 (GRCm39) |
Q98K |
probably damaging |
Het |
| Txndc11 |
A |
T |
16: 10,902,099 (GRCm39) |
L705Q |
probably damaging |
Het |
| Vmn1r22 |
A |
G |
6: 57,877,404 (GRCm39) |
M191T |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,651 (GRCm39) |
K151N |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,646,125 (GRCm39) |
I498V |
probably damaging |
Het |
| Zfp459 |
T |
C |
13: 67,556,615 (GRCm39) |
H156R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,503,532 (GRCm39) |
K676* |
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 |
|
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 |
|
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 |
|
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'- CTAAAGCACCCCATCTGTGG -3'
(R):5'- TTGGTCCAGGTATCCCCAGTTG -3'
Sequencing Primer
(F):5'- TGTGGCTCGCATCCTGAGATC -3'
(R):5'- TCTCCAGTGCTGTGAAGCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation