Mutagenetix > Incidental Mutation

Incidental Mutation 'R2356:Ces2h'

246934

Institutional Source

Beutler Lab

Gene Symbol

Ces2h

Ensembl Gene

ENSMUSG00000091813

Gene Name

carboxylesterase 2H

Synonyms

Gm5744

MMRRC Submission

040338-MU

Accession Numbers

Essential gene?

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

Stock #

R2356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105727462-105747042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105742570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 94 (C94Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126773 (fasta)

Gene Model

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

AlphaFold

F6Z9B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000172032
AA Change: C94Y

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: C94Y

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	T	16: 20,379,249 (GRCm39)	R705L	probably benign	Het
Adcy6	A	T	15: 98,494,897 (GRCm39)		probably null	Het
Ank1	A	T	8: 23,575,688 (GRCm39)	T145S	probably damaging	Het
Aph1a	T	C	3: 95,801,544 (GRCm39)	F21S	probably benign	Het
Apoa5	T	A	9: 46,181,341 (GRCm39)	V139E	probably damaging	Het
Arhgap44	T	C	11: 64,900,851 (GRCm39)	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,565,930 (GRCm39)	P967L	probably benign	Het
Atp13a5	A	T	16: 29,099,887 (GRCm39)	I683N	probably damaging	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cdk10	T	C	8: 123,955,908 (GRCm39)	V199A	probably damaging	Het
Clcn1	G	A	6: 42,268,559 (GRCm39)	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,517,251 (GRCm39)	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,643,510 (GRCm39)	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,699,155 (GRCm39)	S276A	probably benign	Het
Dlg5	A	G	14: 24,220,496 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,315,026 (GRCm39)	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,244,992 (GRCm39)	F23S	probably benign	Het
En2	G	T	5: 28,371,330 (GRCm39)		probably benign	Het
Erbb4	T	A	1: 68,117,755 (GRCm39)	M887L	probably benign	Het
Exoc5	T	C	14: 49,253,738 (GRCm39)	M482V	probably benign	Het
Foxk1	A	G	5: 142,441,164 (GRCm39)	I571V	possibly damaging	Het
Fry	G	A	5: 150,394,897 (GRCm39)	G650D	probably benign	Het
Gm8225	T	C	17: 26,762,378 (GRCm39)	S190P	probably damaging	Het
Gpx5	G	C	13: 21,475,538 (GRCm39)	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,334,555 (GRCm39)	S285T	probably benign	Het
Itga8	T	C	2: 12,204,952 (GRCm39)	H495R	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,284,789 (GRCm39)	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,284,790 (GRCm39)	Y2*	probably null	Het
Lama1	T	A	17: 68,117,109 (GRCm39)	L2468Q	probably damaging	Het
Lmo7	T	C	14: 102,124,381 (GRCm39)	L280S	probably damaging	Het
Matk	G	A	10: 81,097,377 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,001,026 (GRCm39)	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,795,069 (GRCm39)	L1283Q	probably damaging	Het
Muc21	A	G	17: 35,932,563 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,970,863 (GRCm39)	I282N	probably damaging	Het
Ncln	A	G	10: 81,328,756 (GRCm39)	V174A	probably benign	Het
Nipa2	G	A	7: 55,582,714 (GRCm39)	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306 (GRCm38)		noncoding transcript	Het
Or56b1	G	T	7: 104,285,834 (GRCm39)	E318*	probably null	Het
Or6c38	T	C	10: 128,929,761 (GRCm39)	I27M	probably benign	Het
Pik3r5	T	C	11: 68,383,743 (GRCm39)	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,396,415 (GRCm39)	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,307,158 (GRCm39)	D464A	probably damaging	Het
Ppp4r1	T	A	17: 66,140,045 (GRCm39)	Y648N	probably damaging	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,502,068 (GRCm39)	H828Q	probably benign	Het
Prss40	A	T	1: 34,598,984 (GRCm39)	Y69*	probably null	Het
Prx	C	T	7: 27,207,284 (GRCm39)		probably benign	Het
Psmd11	T	A	11: 80,319,530 (GRCm39)	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,630,351 (GRCm39)	H287L	probably benign	Het
Rcor1	T	C	12: 111,076,226 (GRCm39)	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,190,748 (GRCm39)	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,183,626 (GRCm39)	E163*	probably null	Het
Setd4	G	A	16: 93,387,871 (GRCm39)	T205I	probably damaging	Het
Shroom1	A	T	11: 53,357,274 (GRCm39)	T646S	probably benign	Het
Smg8	G	C	11: 86,976,554 (GRCm39)	S342R	probably benign	Het
Spata31h1	A	G	10: 82,119,789 (GRCm39)	V4407A	possibly damaging	Het
Trhde	T	C	10: 114,237,421 (GRCm39)	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,168,052 (GRCm39)	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 23,068,120 (GRCm39)	L71*	probably null	Het
Wnk2	A	T	13: 49,192,644 (GRCm39)	C2032*	probably null	Het
Zfp429	A	G	13: 67,538,746 (GRCm39)	Y233H	probably benign	Het
Zfp809	C	A	9: 22,154,336 (GRCm39)	T351K	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
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'- AGCTTCTCCAGAGCCCATAG -3'
(R):5'- GTTCATGGCATCTGGATCTTCTAG -3'

Sequencing Primer
(F):5'- GAGCCCATAGTCTATACCTTGATGG -3'
(R):5'- AAGAAGTGCTCTCTTACCCCTGAATG -3'

Posted On

2014-10-30