Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Ces2h'

204961

Institutional Source

Beutler Lab

Gene Symbol

Ces2h

Ensembl Gene

ENSMUSG00000091813

Gene Name

carboxylesterase 2H

Synonyms

Gm5744

MMRRC Submission

039860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R1833 (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 105747005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 547 (E547G)

Ref Sequence

ENSEMBL: ENSMUSP00000126773 (fasta)

Gene Model

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

AlphaFold

F6Z9B9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172032
AA Change: E547G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: E547G

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

0.1118

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,179,214 (GRCm39)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 50,982,293 (GRCm39)		noncoding transcript	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,613,797 (GRCm39)		probably null	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Arid4a	C	T	12: 71,122,240 (GRCm39)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,474,775 (GRCm39)	V317I	probably benign	Het
Ccr1	T	A	9: 123,764,126 (GRCm39)	I135F	probably damaging	Het
Ces3b	T	A	8: 105,812,271 (GRCm39)	D173E	probably damaging	Het
Chd3	A	G	11: 69,244,949 (GRCm39)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,968,983 (GRCm39)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,743,184 (GRCm39)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,529,932 (GRCm39)		probably null	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dhx16	A	G	17: 36,196,511 (GRCm39)	T560A	probably benign	Het
Dusp12	T	C	1: 170,702,022 (GRCm39)	M326V	probably benign	Het
Eif3k	T	C	7: 28,670,852 (GRCm39)	I180V	probably benign	Het
Erc1	A	G	6: 119,720,390 (GRCm39)	I437T	possibly damaging	Het
Farp2	T	A	1: 93,504,086 (GRCm39)		probably benign	Het
Foxa3	A	G	7: 18,748,499 (GRCm39)	L209P	probably damaging	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,298,352 (GRCm39)		probably benign	Het
Gm10305	A	G	4: 99,161,363 (GRCm39)	T91A	unknown	Het
Gm14412	T	C	2: 177,007,583 (GRCm39)	D104G	probably benign	Het
Gm6900	T	C	7: 10,390,515 (GRCm39)		noncoding transcript	Het
Gpx1	A	T	9: 108,216,555 (GRCm39)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,678,387 (GRCm39)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hephl1	T	C	9: 14,988,224 (GRCm39)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,666,065 (GRCm39)	Y636*	probably null	Het
Htt	A	G	5: 35,063,092 (GRCm39)		probably benign	Het
Idh1	T	C	1: 65,200,273 (GRCm39)	I364V	probably benign	Het
Itgae	G	T	11: 73,007,988 (GRCm39)	A423S	possibly damaging	Het
Kng2	T	C	16: 22,830,802 (GRCm39)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,201,235 (GRCm39)	T369I	possibly damaging	Het
Lcor	T	C	19: 41,573,387 (GRCm39)	I714T	probably benign	Het
Lhfpl7	A	G	5: 113,382,435 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Magi2	G	T	5: 19,432,455 (GRCm39)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm39)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,631,652 (GRCm39)		probably null	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,622,221 (GRCm39)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,451,633 (GRCm39)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,459,863 (GRCm39)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,343,349 (GRCm39)		probably benign	Het
Or10ad1b	T	A	15: 98,124,846 (GRCm39)	I227F	probably damaging	Het
Or4c10	T	A	2: 89,760,645 (GRCm39)	L164*	probably null	Het
Pcx	T	A	19: 4,669,132 (GRCm39)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,527,408 (GRCm39)	R347Q	probably damaging	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Qsox1	C	T	1: 155,666,791 (GRCm39)	G233S	probably benign	Het
Rbl1	T	A	2: 157,037,475 (GRCm39)	N224I	probably damaging	Het
Rspry1	A	G	8: 95,362,116 (GRCm39)	T132A	probably damaging	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,895,540 (GRCm39)	L331H	probably benign	Het
Sf3b3	T	A	8: 111,544,198 (GRCm39)	Q814L	probably benign	Het
Slc19a2	T	G	1: 164,089,753 (GRCm39)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 109,982,879 (GRCm39)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,376,328 (GRCm39)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,145,426 (GRCm39)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,670 (GRCm39)		probably benign	Het
Tirap	T	G	9: 35,099,999 (GRCm39)	R228S	probably benign	Het
Trp53bp2	T	A	1: 182,256,581 (GRCm39)	H50Q	probably damaging	Het
Try4	A	G	6: 41,280,365 (GRCm39)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,816,643 (GRCm39)	P313S	probably benign	Het
Vps26a	A	C	10: 62,294,825 (GRCm39)	L250V	probably benign	Het
Vwf	A	G	6: 125,619,000 (GRCm39)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,036,053 (GRCm39)		probably benign	Het
Zc3hav1l	A	T	6: 38,274,881 (GRCm39)		probably benign	Het
Zfp119b	T	G	17: 56,246,271 (GRCm39)	H305P	probably damaging	Het
Zfp326	C	T	5: 106,039,035 (GRCm39)	Q134*	probably null	Het
Zfp975	C	T	7: 42,311,263 (GRCm39)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,333,032 (GRCm39)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,241,965 (GRCm39)	S395P	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
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
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'- AGCTCAACAGGGCCTAAAG -3'
(R):5'- GGAACATACATCCTGTAGGGG -3'

Sequencing Primer
(F):5'- AGGGCCTAAAGTAACCTTTGCTC -3'
(R):5'- CATACATCCTGTAGGGGAAACTTC -3'

Posted On

2014-06-23