Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Ces2h'

429941

Institutional Source

Beutler Lab

Gene Symbol

Ces2h

Ensembl Gene

ENSMUSG00000091813

Gene Name

carboxylesterase 2H

Synonyms

Gm5744

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105727462-105747042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105745057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 397 (E397G)

Ref Sequence

ENSEMBL: ENSMUSP00000126773 (fasta)

Gene Model

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

AlphaFold

F6Z9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000172032
AA Change: E397G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: E397G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,689,767 (GRCm39)	D380G	probably damaging	Het
Afm	T	C	5: 90,699,257 (GRCm39)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,348,686 (GRCm39)	I785L	probably damaging	Het
Arpc5l	G	A	2: 38,903,747 (GRCm39)	G79S	probably benign	Het
Arvcf	G	T	16: 18,217,820 (GRCm39)	R440L	probably benign	Het
Atm	T	C	9: 53,414,318 (GRCm39)	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,679,060 (GRCm39)		probably null	Het
Cd19	C	T	7: 126,013,624 (GRCm39)	G55D	probably benign	Het
Cd34	A	G	1: 194,621,266 (GRCm39)		probably benign	Het
Cd69	T	A	6: 129,246,954 (GRCm39)	M88L	probably benign	Het
Ddx60	T	C	8: 62,463,036 (GRCm39)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 148,901,514 (GRCm39)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,164,185 (GRCm39)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,529,247 (GRCm39)	N1027Y	probably damaging	Het
En1	A	G	1: 120,531,324 (GRCm39)	D188G	probably damaging	Het
Epha10	C	T	4: 124,807,914 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,623,388 (GRCm39)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,855,039 (GRCm39)		probably null	Het
Kansl3	A	G	1: 36,397,230 (GRCm39)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,331,918 (GRCm39)	F73L	probably damaging	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,721,749 (GRCm39)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,721,750 (GRCm39)	L98Q	probably damaging	Het
Myo3b	T	A	2: 69,935,724 (GRCm39)	C97S	probably damaging	Het
Neto1	A	G	18: 86,414,033 (GRCm39)	H9R	possibly damaging	Het
Omd	A	T	13: 49,745,703 (GRCm39)	E371V	probably benign	Het
Or1n2	A	T	2: 36,797,833 (GRCm39)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,623,146 (GRCm39)	T282A	possibly damaging	Het
Or4c123	T	C	2: 89,127,257 (GRCm39)	D119G	probably damaging	Het
Or51e2	G	A	7: 102,391,637 (GRCm39)	T191I	probably benign	Het
Osbpl9	G	T	4: 108,919,497 (GRCm39)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,401,951 (GRCm39)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,620,219 (GRCm39)	S198P	probably damaging	Het
Recql	T	G	6: 142,308,073 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,184,712 (GRCm39)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,438,100 (GRCm39)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,598,974 (GRCm39)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm39)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,278,777 (GRCm39)	C37*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,594,954 (GRCm39)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,367 (GRCm39)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,288,585 (GRCm39)	T80A	probably benign	Het
Tmc1	A	G	19: 20,781,966 (GRCm39)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,654,494 (GRCm39)	F324L	probably benign	Het
Usp19	T	C	9: 108,377,392 (GRCm39)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wrn	C	T	8: 33,784,945 (GRCm39)	V476I	probably benign	Het
Zbed6	G	A	1: 133,585,879 (GRCm39)	T486I	probably damaging	Het
Zbtb25	C	A	12: 76,396,476 (GRCm39)	E249*	probably null	Het
Zfp54	C	A	17: 21,653,962 (GRCm39)	T152K	probably benign	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
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
R6688:Ces2h	UTSW	8	105,744,472 (GRCm39)	missense	probably benign
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'- AGGATGAACTGTGATGGTGC -3'
(R):5'- CCAATACAGAGACATGGGTTGG -3'

Sequencing Primer
(F):5'- TGAGTGTCCCCAGAACCTG -3'
(R):5'- CATGGGTTGGGATATAAACACCCC -3'

Posted On

2016-09-06