Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00653:Ces2c'

9642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces2c

Ensembl Gene

ENSMUSG00000061825

Gene Name

carboxylesterase 2C

Synonyms

Ces2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL00653

Quality Score

Status

Chromosome

Chromosomal Location

105573700-105581115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105576368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 127 (Y127F)

Ref Sequence

ENSEMBL: ENSMUSP00000058567 (fasta)

Gene Model

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

AlphaFold

Q91WG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055052
AA Change: Y127F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: Y127F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162970

Coding Region Coverage

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: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano5	T	C	7: 51,216,261 (GRCm39)	S373P	probably damaging	Het
Ccl8	C	T	11: 82,007,428 (GRCm39)	L88F	probably damaging	Het
Glp1r	T	C	17: 31,149,734 (GRCm39)	S333P	probably damaging	Het
Mycbp2	T	C	14: 103,380,664 (GRCm39)	N3664S	probably damaging	Het
N4bp1	T	C	8: 87,588,354 (GRCm39)	S195G	probably benign	Het
Scaper	A	T	9: 55,767,143 (GRCm39)	N429K	probably damaging	Het
Sparcl1	C	T	5: 104,240,788 (GRCm39)	G212D	probably benign	Het

Other mutations in Ces2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9684:Ces2c	UTSW	8	105,574,699 (GRCm39)	missense	probably benign	0.27
R9753:Ces2c	UTSW	8	105,580,249 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-06