Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Ces5a'

564273

Institutional Source

Beutler Lab

Gene Symbol

Ces5a

Ensembl Gene

ENSMUSG00000058019

Gene Name

carboxylesterase 5A

Synonyms

Ces7, 1700122C07Rik, LOC244598, 1700081L16Rik, cauxin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93499064-93535830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93499526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 527 (T527I)

Ref Sequence

ENSEMBL: ENSMUSP00000148481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077816] [ENSMUST00000212009]

AlphaFold

Q6AW46

Predicted Effect

probably benign
Transcript: ENSMUST00000077816
AA Change: T527I

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: T527I

Domain	Start	End	E-Value	Type
Pfam:COesterase	10	539	3.2e-157	PFAM
Pfam:Abhydrolase_3	141	238	9.5e-7	PFAM
low complexity region	552	575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212009
AA Change: T527I

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

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

Validation Efficiency

99% (70/71)

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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,863,035	Y790H	probably damaging	Het
Bend3	A	C	10: 43,493,671	S7R	probably benign	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,556,001	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,311,867	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cecr2	T	C	6: 120,762,529	S1406P	probably benign	Het
Cep290	A	G	10: 100,546,498	T208A	probably damaging	Het
Cep85l	A	C	10: 53,296,255	C569W	probably damaging	Het
Clca2	T	A	3: 145,090,847	I200F	probably damaging	Het
Cmas	G	A	6: 142,770,586	D251N	probably damaging	Het
Ctcfl	G	T	2: 173,118,475	A105E	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dctn6	A	T	8: 34,090,808	I170N	probably damaging	Het
Dnah2	T	C	11: 69,431,094	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,591,931	V465I	possibly damaging	Het
Dzip1	T	C	14: 118,885,646	T646A	probably benign	Het
Etv4	T	A	11: 101,784,325		probably null	Het
Exoc3l2	T	C	7: 19,484,703	V549A	unknown	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
Fry	T	G	5: 150,466,786	I179S		Het
Galntl5	A	G	5: 25,195,300	H109R	probably benign	Het
Garem1	C	A	18: 21,148,754	G182W	probably damaging	Het
Gm10696	T	C	3: 94,176,360	E48G	probably benign	Het
Gm13078	T	A	4: 143,726,279	D93E	probably benign	Het
Gm5916	A	T	9: 36,120,989	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,479,201	F271I	probably benign	Het
Hivep2	G	T	10: 14,129,101	S481I	probably benign	Het
Homez	T	A	14: 54,857,420	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,319,896		probably null	Het
Igll1	A	G	16: 16,861,093	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,578,053		probably null	Het
Kif5b	A	G	18: 6,225,340	V230A	probably damaging	Het
Ldlr	T	A	9: 21,745,744	V719E	probably benign	Het
Lsm7	G	A	10: 80,853,731	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,892,238	D90E	probably benign	Het
Mmrn1	A	G	6: 60,976,114	K460E	probably damaging	Het
Myh10	A	C	11: 68,790,689	N1061H	probably damaging	Het
Nepn	A	G	10: 52,400,993	Q275R	probably benign	Het
Noc3l	A	T	19: 38,812,356	D227E	probably benign	Het
Nploc4	G	T	11: 120,428,550	S61R	probably benign	Het
Nr4a2	T	C	2: 57,112,369	Y24C	probably damaging	Het
Nup160	T	A	2: 90,723,355	I1143N	probably damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr1234	A	T	2: 89,362,494	Y312N	probably benign	Het
Olfr294	G	T	7: 86,615,665	H327N	probably benign	Het
Olfr895	T	A	9: 38,268,708	M57K	probably damaging	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgap1	A	T	1: 54,493,207		probably null	Het
Pitrm1	A	G	13: 6,556,597	H229R	probably damaging	Het
Plcl1	A	G	1: 55,698,218	Q906R	probably benign	Het
Ppfia3	T	C	7: 45,341,743	N1018S	probably benign	Het
Prkd1	A	G	12: 50,388,342	V534A	possibly damaging	Het
Pygm	A	T	19: 6,385,896	I126F	probably benign	Het
Rag1	T	C	2: 101,642,070	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 91,884,518	Q560*	probably null	Het
Rbp3	A	T	14: 33,962,583	I1190F	possibly damaging	Het
Reln	T	C	5: 21,978,923	K1693E	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsph3a	A	G	17: 7,946,170	T121A	probably benign	Het
Rufy3	A	G	5: 88,614,947	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,672,246	Q3548*	probably null	Het
Sardh	A	T	2: 27,218,812	V637D	probably benign	Het
Spata16	T	C	3: 26,667,867	V179A	probably benign	Het
Tbc1d30	G	A	10: 121,288,965	T319I	probably damaging	Het
Tlr2	T	A	3: 83,837,606	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,252,040		probably null	Het
Vmn1r113	T	A	7: 20,787,445	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,249,866	Y210S	probably damaging	Het
Zbbx	A	T	3: 75,039,898	H670Q	probably benign	Het

Other mutations in Ces5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ces5a	APN	8	93525544	critical splice donor site	probably null
IGL01520:Ces5a	APN	8	93519578	missense	probably benign	0.08
IGL01674:Ces5a	APN	8	93502219	missense	probably damaging	1.00
IGL02257:Ces5a	APN	8	93525598	missense	probably benign	0.00
IGL02456:Ces5a	APN	8	93528644	splice site	probably benign
IGL03027:Ces5a	APN	8	93523114	splice site	probably null
IGL03051:Ces5a	APN	8	93528598	missense	probably damaging	1.00
IGL03264:Ces5a	APN	8	93502270	missense	possibly damaging	0.74
IGL03290:Ces5a	APN	8	93519632	missense	probably damaging	1.00
R0115:Ces5a	UTSW	8	93502183	missense	probably damaging	0.98
R0124:Ces5a	UTSW	8	93528555	missense	probably damaging	1.00
R0521:Ces5a	UTSW	8	93525658	missense	probably damaging	1.00
R1404:Ces5a	UTSW	8	93502181	missense	probably damaging	1.00
R1404:Ces5a	UTSW	8	93502181	missense	probably damaging	1.00
R1524:Ces5a	UTSW	8	93525665	missense	probably damaging	0.96
R1843:Ces5a	UTSW	8	93514231	missense	probably damaging	1.00
R2029:Ces5a	UTSW	8	93534577	missense	probably damaging	1.00
R2135:Ces5a	UTSW	8	93499741	missense	probably benign	0.33
R2146:Ces5a	UTSW	8	93534699	missense	probably benign	0.03
R2973:Ces5a	UTSW	8	93528504	missense	probably damaging	1.00
R3755:Ces5a	UTSW	8	93528502	missense	probably benign	0.15
R4755:Ces5a	UTSW	8	93535677	missense	probably benign	0.39
R5072:Ces5a	UTSW	8	93534668	missense	probably damaging	1.00
R5278:Ces5a	UTSW	8	93525638	missense	probably damaging	1.00
R5419:Ces5a	UTSW	8	93499431	missense	unknown
R5825:Ces5a	UTSW	8	93525667	missense	probably damaging	1.00
R6318:Ces5a	UTSW	8	93534583	missense	probably damaging	1.00
R6925:Ces5a	UTSW	8	93523057	splice site	probably null
R6950:Ces5a	UTSW	8	93530774	missense	probably benign	0.10
R7148:Ces5a	UTSW	8	93502322	missense	probably damaging	1.00
R7290:Ces5a	UTSW	8	93534683	missense	probably damaging	1.00
R7459:Ces5a	UTSW	8	93535741	start gained	probably benign
R7674:Ces5a	UTSW	8	93514269	missense	probably damaging	1.00
R7815:Ces5a	UTSW	8	93520995	missense	possibly damaging	0.79
R8150:Ces5a	UTSW	8	93530802	missense	probably damaging	1.00
R8771:Ces5a	UTSW	8	93528621	missense	possibly damaging	0.85
R9502:Ces5a	UTSW	8	93535680	nonsense	probably null
R9518:Ces5a	UTSW	8	93530802	missense	probably damaging	1.00
R9745:Ces5a	UTSW	8	93502186	missense	probably damaging	0.97
X0024:Ces5a	UTSW	8	93514213	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGATTAGCGCACAGAAATC -3'
(R):5'- ACTGGGCTAACTTTGCCAGG -3'

Sequencing Primer
(F):5'- TAATGGCTGAGGGAGAAACTTC -3'
(R):5'- GAGCGGGTGAGTGAGCC -3'

Posted On

2019-06-26