Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Ces2h'

410414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces2h

Ensembl Gene

ENSMUSG00000091813

Gene Name

carboxylesterase 2H

Synonyms

Gm5744

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

105000853-105021178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105016779 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 188 (D188E)

Ref Sequence

ENSEMBL: ENSMUSP00000126773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172032]

Predicted Effect

probably damaging
Transcript: ENSMUST00000172032
AA Change: D188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: D188E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212347

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	Het

Other mutations in Ces2h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Ces2h	APN	8	105014484	missense	probably benign	0.01
IGL02268:Ces2h	APN	8	105019940	missense	probably benign	0.00
R0138:Ces2h	UTSW	8	105018061	missense	probably benign	0.01
R0294:Ces2h	UTSW	8	105016604	missense	probably benign	0.01
R0482:Ces2h	UTSW	8	105020271	missense	possibly damaging	0.48
R0899:Ces2h	UTSW	8	105014550	missense	probably damaging	1.00
R1232:Ces2h	UTSW	8	105014655	missense	probably benign	0.38
R1535:Ces2h	UTSW	8	105014486	missense	probably benign	0.06
R1738:Ces2h	UTSW	8	105019065	critical splice donor site	probably null
R1748:Ces2h	UTSW	8	105017841	missense	probably benign	0.00
R1759:Ces2h	UTSW	8	105016611	missense	probably damaging	1.00
R1778:Ces2h	UTSW	8	105014607	missense	possibly damaging	0.93
R1833:Ces2h	UTSW	8	105020373	missense	possibly damaging	0.93
R1999:Ces2h	UTSW	8	105020345	missense	probably benign	0.03
R2018:Ces2h	UTSW	8	105018398	missense	probably damaging	1.00
R2076:Ces2h	UTSW	8	105019028	missense	probably benign
R2261:Ces2h	UTSW	8	105016559	missense	probably damaging	0.99
R2262:Ces2h	UTSW	8	105016559	missense	probably damaging	0.99
R2356:Ces2h	UTSW	8	105015938	missense	probably damaging	0.98
R4453:Ces2h	UTSW	8	105014656	critical splice donor site	probably null
R4656:Ces2h	UTSW	8	105014639	missense	possibly damaging	0.80
R4732:Ces2h	UTSW	8	105014604	missense	probably damaging	0.97
R4733:Ces2h	UTSW	8	105014604	missense	probably damaging	0.97
R5219:Ces2h	UTSW	8	105016646	missense	probably damaging	1.00
R5400:Ces2h	UTSW	8	105018425	missense	probably benign	0.01
R5696:Ces2h	UTSW	8	105018979	missense	possibly damaging	0.69
R5894:Ces2h	UTSW	8	105019026	missense	probably benign	0.14
R6688:Ces2h	UTSW	8	105017840	missense	probably benign
R6711:Ces2h	UTSW	8	105018083	missense	probably benign	0.22
R6868:Ces2h	UTSW	8	105018423	missense	probably benign	0.02
R7233:Ces2h	UTSW	8	105017456	missense	probably damaging	0.99
R7516:Ces2h	UTSW	8	105016826	missense	probably damaging	1.00
R7710:Ces2h	UTSW	8	105000865	nonsense	probably null
R7735:Ces2h	UTSW	8	105014495	missense	probably benign	0.01
R7803:Ces2h	UTSW	8	105018400	missense	probably benign	0.00

Posted On

2016-08-02