Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Ces2h'

287005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces2h

Ensembl Gene

ENSMUSG00000091813

Gene Name

carboxylesterase 2H

Synonyms

Gm5744

Accession Numbers

Essential gene?

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

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

105727462-105747042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105746572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 475 (F475Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126773 (fasta)

Gene Model

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

AlphaFold

F6Z9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000172032
AA Change: F475Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: F475Y

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	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
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
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

Posted On

2015-04-16