Mutagenetix > Incidental Mutation

Incidental Mutation 'R0294:Ces2h'

26296

Institutional Source

Beutler Lab

Gene Symbol

Ces2h

Ensembl Gene

ENSMUSG00000091813

Gene Name

carboxylesterase 2H

Synonyms

Gm5744

MMRRC Submission

038511-MU

Accession Numbers

Essential gene?

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

Stock #

R0294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105727462-105747042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105743236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 157 (M157K)

Ref Sequence

ENSEMBL: ENSMUSP00000126773 (fasta)

Gene Model

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

AlphaFold

F6Z9B9

Predicted Effect

probably benign
Transcript: ENSMUST00000172032
AA Change: M157K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: M157K

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.4%

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
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Aadat	A	G	8: 60,987,642 (GRCm39)	E319G	possibly damaging	Het
Abca13	A	G	11: 9,219,122 (GRCm39)		probably null	Het
Actl7b	A	T	4: 56,740,848 (GRCm39)	L170Q	possibly damaging	Het
Adam29	C	A	8: 56,326,311 (GRCm39)	V48L	probably benign	Het
Aknad1	A	G	3: 108,682,508 (GRCm39)	Y528C	probably damaging	Het
Alas1	T	A	9: 106,118,455 (GRCm39)	K222N	probably damaging	Het
Aplf	A	G	6: 87,623,227 (GRCm39)	V284A	probably benign	Het
Atp11a	G	A	8: 12,877,524 (GRCm39)	V317M	probably benign	Het
Bub3	A	G	7: 131,169,953 (GRCm39)	E206G	possibly damaging	Het
Cblb	T	G	16: 51,956,187 (GRCm39)	F263L	probably damaging	Het
Cfh	A	G	1: 140,110,999 (GRCm39)	F6L	probably benign	Het
Chst1	G	T	2: 92,443,987 (GRCm39)	R153L	probably damaging	Het
Cimap2	T	C	4: 106,470,361 (GRCm39)	D232G	probably damaging	Het
Cntnap5a	T	A	1: 115,843,046 (GRCm39)	N121K	probably benign	Het
Crybg1	A	T	10: 43,862,372 (GRCm39)	S1467R	probably damaging	Het
Cyp2d22	A	G	15: 82,258,646 (GRCm39)	F72L	possibly damaging	Het
Dmrt2	C	T	19: 25,655,435 (GRCm39)	P345S	probably damaging	Het
Dock8	T	C	19: 25,165,714 (GRCm39)	I1866T	probably damaging	Het
Egfem1	A	G	3: 29,744,270 (GRCm39)	N503S	probably damaging	Het
Ehbp1	T	C	11: 22,045,427 (GRCm39)	D774G	probably benign	Het
Foxp2	C	A	6: 15,376,773 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,547 (GRCm39)	V99A	possibly damaging	Het
Grm1	A	T	10: 10,956,143 (GRCm39)	I47N	probably damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Hsdl2	T	A	4: 59,601,408 (GRCm39)	S127T	probably benign	Het
Il5ra	A	T	6: 106,689,362 (GRCm39)	M410K	probably benign	Het
Ints7	A	G	1: 191,344,003 (GRCm39)	S548G	possibly damaging	Het
Kcnt1	A	G	2: 25,778,122 (GRCm39)	E80G	probably damaging	Het
Lgr6	T	A	1: 135,032,799 (GRCm39)	Q27L	unknown	Het
Lgr6	A	G	1: 134,915,629 (GRCm39)	V373A	probably damaging	Het
Map3k14	T	C	11: 103,117,963 (GRCm39)	I610V	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Metap1d	T	A	2: 71,352,889 (GRCm39)	H239Q	probably benign	Het
Mgst2	A	G	3: 51,589,251 (GRCm39)	Y88C	probably damaging	Het
Mroh4	T	C	15: 74,477,998 (GRCm39)	N903D	probably benign	Het
Nbeal2	T	G	9: 110,461,927 (GRCm39)	D1476A	probably damaging	Het
Nlgn1	C	A	3: 26,187,625 (GRCm39)	A87S	probably benign	Het
Nln	C	T	13: 104,189,087 (GRCm39)	G295S	probably damaging	Het
Nnt	T	A	13: 119,472,803 (GRCm39)	Y719F	probably benign	Het
Nnt	T	G	13: 119,474,953 (GRCm39)	I659L	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51b17	A	T	7: 103,542,137 (GRCm39)	H268Q	probably benign	Het
Or52s6	G	A	7: 103,092,291 (GRCm39)	T13I	possibly damaging	Het
Or5p78	A	T	7: 108,212,357 (GRCm39)	Y281F	probably damaging	Het
Or9g4	A	G	2: 85,505,060 (GRCm39)	V145A	probably damaging	Het
Otogl	C	T	10: 107,613,089 (GRCm39)	C2041Y	probably damaging	Het
Patj	G	T	4: 98,385,285 (GRCm39)	D300Y	probably damaging	Het
Pkhd1l1	A	T	15: 44,423,831 (GRCm39)	E3124D	probably benign	Het
Plbd2	A	G	5: 120,625,514 (GRCm39)		probably null	Het
Pphln1	T	C	15: 93,318,171 (GRCm39)	Y57H	probably damaging	Het
Ppp1r16b	C	T	2: 158,588,523 (GRCm39)	T78M	probably damaging	Het
Prss40	T	G	1: 34,595,162 (GRCm39)	D224A	possibly damaging	Het
Senp6	A	G	9: 80,021,007 (GRCm39)		probably null	Het
Shank3	A	G	15: 89,416,301 (GRCm39)	E666G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a18	G	A	7: 143,046,578 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,161 (GRCm39)	C292R	probably damaging	Het
Spata31e5	T	C	1: 28,817,744 (GRCm39)	Q96R	probably benign	Het
Sphkap	T	A	1: 83,255,966 (GRCm39)	E594D	possibly damaging	Het
Srpra	T	A	9: 35,126,811 (GRCm39)	M61K	probably damaging	Het
Trmt10c	A	T	16: 55,855,240 (GRCm39)	Y132N	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTCCATGACTGCACTTGAACC -3'
(R):5'- ACACTTGTGCCACCTGCTGATG -3'

Sequencing Primer
(F):5'- GAACCCGTCACTCATAGTATCTG -3'
(R):5'- CCTCCAAAGTAGGCGATGTTC -3'

Posted On

2013-04-16