Incidental Mutation 'R0050:Ces2c'
| ID |
218460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2c
|
| Ensembl Gene |
ENSMUSG00000061825 |
| Gene Name |
carboxylesterase 2C |
| Synonyms |
Ces2 |
| MMRRC Submission |
038344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0050 (G1)
|
| Quality Score |
38 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105573700-105581115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105574831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 96
(M96K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055052]
|
| AlphaFold |
Q91WG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055052
AA Change: M96K
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: M96K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
11 |
540 |
1.5e-173 |
PFAM |
|
Pfam:Abhydrolase_3
|
145 |
278 |
6.5e-8 |
PFAM |
|
Pfam:Peptidase_S9
|
160 |
293 |
4e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160839
|
| Meta Mutation Damage Score |
0.0764 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. The transcription of this gene is regulated by several factors including HNF-4alpha (hepatocyte nuclear factor-4alpha), Sp1 (specificity protein 1), Sp3 and USF1 (upstream stimulatory factor 1). The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with several family members including a few of pseudogenes and Ces5 on chromosome 8.[provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,036,417 (GRCm39) |
C564Y |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,222 (GRCm39) |
V406A |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,695,323 (GRCm39) |
E1093D |
probably damaging |
Het |
| Arhgef38 |
C |
A |
3: 132,837,957 (GRCm39) |
D75Y |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,715,440 (GRCm39) |
|
probably benign |
Het |
| Cadm2 |
A |
G |
16: 66,750,154 (GRCm39) |
|
probably benign |
Het |
| Dmrt3 |
C |
A |
19: 25,599,953 (GRCm39) |
P266H |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,637 (GRCm39) |
V1124A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,805,809 (GRCm39) |
F37L |
possibly damaging |
Het |
| Ermp1 |
C |
A |
19: 29,606,184 (GRCm39) |
A190S |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,520 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,182,139 (GRCm39) |
V29D |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,485 (GRCm39) |
M755L |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,924,729 (GRCm39) |
K78N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,537,160 (GRCm39) |
H268Q |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,792 (GRCm39) |
V1614A |
probably damaging |
Het |
| Oaz2 |
A |
G |
9: 65,595,084 (GRCm39) |
E61G |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,663,294 (GRCm39) |
Y441* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,203 (GRCm39) |
T3493S |
possibly damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,192,545 (GRCm39) |
|
probably null |
Het |
| Ppp3cb |
A |
G |
14: 20,581,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Rheb |
A |
T |
5: 25,022,832 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,977,899 (GRCm39) |
T1449M |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,172 (GRCm39) |
L182S |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,337,378 (GRCm39) |
|
probably benign |
Het |
| Stx2 |
A |
G |
5: 129,076,572 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
A |
17: 34,892,299 (GRCm39) |
D764E |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,068,707 (GRCm39) |
E234D |
probably damaging |
Het |
|
| Other mutations in Ces2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00653:Ces2c
|
APN |
8 |
105,576,368 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01989:Ces2c
|
APN |
8 |
105,576,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02523:Ces2c
|
APN |
8 |
105,574,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03213:Ces2c
|
APN |
8 |
105,574,672 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0050:Ces2c
|
UTSW |
8 |
105,574,831 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0288:Ces2c
|
UTSW |
8 |
105,576,376 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0506:Ces2c
|
UTSW |
8 |
105,574,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Ces2c
|
UTSW |
8 |
105,574,672 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5995:Ces2c
|
UTSW |
8 |
105,577,533 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6271:Ces2c
|
UTSW |
8 |
105,578,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Ces2c
|
UTSW |
8 |
105,576,331 (GRCm39) |
missense |
probably benign |
|
|
R6533:Ces2c
|
UTSW |
8 |
105,578,725 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7453:Ces2c
|
UTSW |
8 |
105,576,302 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8403:Ces2c
|
UTSW |
8 |
105,574,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Ces2c
|
UTSW |
8 |
105,574,699 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9753:Ces2c
|
UTSW |
8 |
105,580,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGATCCAAGGCAGCCTTATCC -3'
(R):5'- AGATGCACCCATTGTGGCAGAG -3'
Sequencing Primer
(F):5'- GAATCCCCTTTGCCAAACCT -3'
(R):5'- TATGAGTGCCAAGCTCTGAC -3'
|
| Posted On |
2014-08-11 |
Incidental Mutation