Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Ces2c'

728744

Institutional Source

Beutler Lab

Gene Symbol

Ces2c

Ensembl Gene

ENSMUSG00000061825

Gene Name

carboxylesterase 2C

Synonyms

Ces2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105573700-105581115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 105574699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 52 (D52A)

Ref Sequence

ENSEMBL: ENSMUSP00000058567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055052]

AlphaFold

Q91WG0

Predicted Effect

probably benign
Transcript: ENSMUST00000055052
AA Change: D52A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: D52A

Domain	Start	End	E-Value	Type
Pfam:COesterase	11	540	1.5e-173	PFAM
Pfam:Abhydrolase_3	145	278	6.5e-8	PFAM
Pfam:Peptidase_S9	160	293	4e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: 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. The transcription of this gene is regulated by several factors including HNF-4alpha (hepatocyte nuclear factor-4alpha), Sp1 (specificity protein 1), Sp3 and USF1 (upstream stimulatory factor 1). The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with several family members including a few of pseudogenes and Ces5 on chromosome 8.[provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	Het

Other mutations in Ces2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Ces2c	APN	8	105,576,368 (GRCm39)	missense	possibly damaging	0.92
IGL01989:Ces2c	APN	8	105,576,375 (GRCm39)	missense	probably damaging	1.00
IGL02523:Ces2c	APN	8	105,574,746 (GRCm39)	missense	probably damaging	0.99
IGL03213:Ces2c	APN	8	105,574,672 (GRCm39)	missense	probably benign	0.19
R0050:Ces2c	UTSW	8	105,574,831 (GRCm39)	missense	probably benign	0.25
R0050:Ces2c	UTSW	8	105,574,831 (GRCm39)	missense	probably benign	0.25
R0288:Ces2c	UTSW	8	105,576,376 (GRCm39)	missense	probably benign	0.04
R0506:Ces2c	UTSW	8	105,574,656 (GRCm39)	missense	probably damaging	1.00
R4727:Ces2c	UTSW	8	105,574,672 (GRCm39)	missense	probably benign	0.19
R5995:Ces2c	UTSW	8	105,577,533 (GRCm39)	missense	possibly damaging	0.81
R6271:Ces2c	UTSW	8	105,578,748 (GRCm39)	missense	probably damaging	1.00
R6283:Ces2c	UTSW	8	105,576,331 (GRCm39)	missense	probably benign
R6533:Ces2c	UTSW	8	105,578,725 (GRCm39)	missense	possibly damaging	0.75
R7453:Ces2c	UTSW	8	105,576,302 (GRCm39)	missense	probably benign	0.10
R8403:Ces2c	UTSW	8	105,574,714 (GRCm39)	missense	probably damaging	1.00
R9753:Ces2c	UTSW	8	105,580,249 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAACACAACACGGGTGAACTG -3'
(R):5'- GAGCTCAGAGTACATTCTCCCC -3'

Sequencing Primer
(F):5'- GCTGGGTTCCCTTCTCCTGAAC -3'
(R):5'- AGAGTACATTCTCCCCCAGTG -3'

Posted On

2022-10-06