Incidental Mutation 'R6688:Ces2h'
| ID |
527864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2h
|
| Ensembl Gene |
ENSMUSG00000091813 |
| Gene Name |
carboxylesterase 2H |
| Synonyms |
Gm5744 |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105727462-105747042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105744472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 316
(I316V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172032]
|
| AlphaFold |
F6Z9B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172032
AA Change: I316V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: I316V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
9 |
537 |
2.5e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
142 |
275 |
4.1e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
161 |
326 |
3.3e-8 |
PFAM |
|
coiled coil region
|
538 |
558 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly damaging |
Het |
|
| Other mutations in Ces2h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01530:Ces2h
|
APN |
8 |
105,741,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02268:Ces2h
|
APN |
8 |
105,746,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03133:Ces2h
|
APN |
8 |
105,743,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Ces2h
|
UTSW |
8 |
105,744,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0294:Ces2h
|
UTSW |
8 |
105,743,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0482:Ces2h
|
UTSW |
8 |
105,746,903 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0899:Ces2h
|
UTSW |
8 |
105,741,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Ces2h
|
UTSW |
8 |
105,741,287 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1535:Ces2h
|
UTSW |
8 |
105,741,118 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1738:Ces2h
|
UTSW |
8 |
105,745,697 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1748:Ces2h
|
UTSW |
8 |
105,744,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1759:Ces2h
|
UTSW |
8 |
105,743,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Ces2h
|
UTSW |
8 |
105,741,239 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1833:Ces2h
|
UTSW |
8 |
105,747,005 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1999:Ces2h
|
UTSW |
8 |
105,746,977 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2018:Ces2h
|
UTSW |
8 |
105,745,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Ces2h
|
UTSW |
8 |
105,745,660 (GRCm39) |
missense |
probably benign |
|
|
R2261:Ces2h
|
UTSW |
8 |
105,743,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2262:Ces2h
|
UTSW |
8 |
105,743,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2356:Ces2h
|
UTSW |
8 |
105,742,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4453:Ces2h
|
UTSW |
8 |
105,741,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4656:Ces2h
|
UTSW |
8 |
105,741,271 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4732:Ces2h
|
UTSW |
8 |
105,741,236 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4733:Ces2h
|
UTSW |
8 |
105,741,236 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5219:Ces2h
|
UTSW |
8 |
105,743,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Ces2h
|
UTSW |
8 |
105,745,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5696:Ces2h
|
UTSW |
8 |
105,745,611 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5894:Ces2h
|
UTSW |
8 |
105,745,658 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6711:Ces2h
|
UTSW |
8 |
105,744,715 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6868:Ces2h
|
UTSW |
8 |
105,745,055 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7233:Ces2h
|
UTSW |
8 |
105,744,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7516:Ces2h
|
UTSW |
8 |
105,743,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Ces2h
|
UTSW |
8 |
105,727,497 (GRCm39) |
nonsense |
probably null |
|
|
R7735:Ces2h
|
UTSW |
8 |
105,741,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7803:Ces2h
|
UTSW |
8 |
105,745,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8922:Ces2h
|
UTSW |
8 |
105,744,756 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAAGAGCAGGACATGG -3'
(R):5'- AATCATGCTCATGCTCTAAGTGG -3'
Sequencing Primer
(F):5'- GGAAACCATCTGTAGGACCTCATAG -3'
(R):5'- CATGCTCATGCTCTAAGTGGTAAGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation