Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Ces5a'

357924

Institutional Source

Beutler Lab

Gene Symbol

Ces5a

Ensembl Gene

ENSMUSG00000058019

Gene Name

carboxylesterase 5A

Synonyms

Ces7, 1700122C07Rik, LOC244598, 1700081L16Rik, cauxin

MMRRC Submission

042033-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93499064-93535830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93535677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 11 (A11S)

Ref Sequence

ENSEMBL: ENSMUSP00000148481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077816] [ENSMUST00000212009] [ENSMUST00000212722]

AlphaFold

Q6AW46

Predicted Effect

probably benign
Transcript: ENSMUST00000077816
AA Change: A11S

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: A11S

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: A11S

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000212722
AA Change: A11S

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859		noncoding transcript	Het
Accs	T	C	2: 93,841,337	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522		probably benign	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987		probably null	Het
C130079G13Rik	C	T	3: 59,936,314	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,230,871	M37L	probably benign	Het
Cenpk	A	T	13: 104,249,512	H305L	probably benign	Het
Cfap65	T	C	1: 74,928,361	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406		probably null	Het
Col4a4	T	C	1: 82,541,174	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786		probably null	Het
Gpld1	A	T	13: 24,979,688	Y43F	probably benign	Het
Gpld1	T	A	13: 24,979,692	Y44*	probably null	Het
Grid2	A	G	6: 63,908,988	T123A	probably benign	Het
Grina	T	C	15: 76,249,242	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945	K319*	probably null	Het
Hey2	A	T	10: 30,834,304	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843	C32W	probably damaging	Het
March10	C	T	11: 105,364,476		probably benign	Het
Mier2	A	T	10: 79,549,197	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Myo18b	G	A	5: 112,874,474	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739	A513E	probably benign	Het
Neb	T	C	2: 52,220,209	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790		probably benign	Het
Ralgapa1	A	G	12: 55,712,748	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666		probably benign	Het
Slc4a10	T	A	2: 62,296,988	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215		probably benign	Het
Strn3	T	A	12: 51,610,216	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780		probably benign	Het
Tril	T	A	6: 53,818,464	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793	F602I	probably damaging	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
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
R7256:Ces5a	UTSW	8	93499526	missense	probably benign	0.13
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
X0024:Ces5a	UTSW	8	93514213	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAAGAACCCAAGGTCTACAC -3'
(R):5'- ACAGGAAAGTCCCGTTTGG -3'

Sequencing Primer
(F):5'- AAGGTCTACACATCCTTCCCCATG -3'
(R):5'- CAGGAAAGTCCCGTTTGGTCAATTC -3'

Posted On

2015-11-11