Mutagenetix > Incidental Mutation

Incidental Mutation 'R7459:Ces5a'

578322

Institutional Source

Beutler Lab

Gene Symbol

Ces5a

Ensembl Gene

ENSMUSG00000058019

Gene Name

carboxylesterase 5A

Synonyms

1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik

MMRRC Submission

045533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94225692-94262458 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 94262369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148373 (fasta)

Gene Model

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

AlphaFold

Q6AW46

Predicted Effect

probably benign
Transcript: ENSMUST00000077816

SMART Domains

Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212722

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,756,933 (GRCm39)	V730E	probably damaging	Het
Agbl1	G	A	7: 76,069,814 (GRCm39)	D449N	not run	Het
Agr2	A	T	12: 36,047,452 (GRCm39)	E96V	probably benign	Het
Atp1a2	A	C	1: 172,114,862 (GRCm39)	S308A	probably benign	Het
Birc7	T	C	2: 180,571,150 (GRCm39)	S71P	possibly damaging	Het
Brme1	T	G	8: 84,893,981 (GRCm39)	S383A	probably benign	Het
Camk2g	T	C	14: 20,829,275 (GRCm39)	I73V	probably damaging	Het
Carf	C	A	1: 60,167,198 (GRCm39)	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,767,820 (GRCm39)	Q665*	probably null	Het
Cd79a	A	T	7: 24,598,567 (GRCm39)	T39S	possibly damaging	Het
Dkk2	C	A	3: 131,880,790 (GRCm39)	T145N	probably benign	Het
Dot1l	C	T	10: 80,609,007 (GRCm39)	A188V	probably damaging	Het
Egfr	T	A	11: 16,846,967 (GRCm39)	V788D	probably damaging	Het
Esyt3	T	A	9: 99,240,117 (GRCm39)	H109L	probably benign	Het
Fam234b	C	T	6: 135,188,899 (GRCm39)	T168I	probably benign	Het
Fan1	G	T	7: 63,998,714 (GRCm39)	S936Y	probably damaging	Het
Fat2	T	C	11: 55,194,745 (GRCm39)	E1098G	probably damaging	Het
Fcgbp	A	G	7: 27,806,710 (GRCm39)	D2226G	possibly damaging	Het
Flacc1	T	G	1: 58,730,911 (GRCm39)	E48D	possibly damaging	Het
Flvcr2	T	C	12: 85,793,831 (GRCm39)	V69A	probably benign	Het
Foxb2	T	A	19: 16,850,436 (GRCm39)	H190L	unknown	Het
Fut4	C	T	9: 14,662,602 (GRCm39)	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,542,426 (GRCm39)	A91V	probably benign	Het
Hip1	A	G	5: 135,443,151 (GRCm39)	S961P	probably damaging	Het
Hsf2bp	C	T	17: 32,165,708 (GRCm39)	V296M	probably benign	Het
Hspbp1	G	T	7: 4,687,577 (GRCm39)	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,944,432 (GRCm39)	E81K	probably benign	Het
Isg20l2	T	C	3: 87,839,485 (GRCm39)	L232P	possibly damaging	Het
Isx	A	G	8: 75,619,392 (GRCm39)	Y181C	probably benign	Het
Kif9	A	G	9: 110,348,109 (GRCm39)	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,727,682 (GRCm39)	V177D	probably benign	Het
Lpin3	T	C	2: 160,739,220 (GRCm39)	S343P	probably benign	Het
Mat1a	A	T	14: 40,842,141 (GRCm39)	Q246L	probably benign	Het
Mlkl	T	C	8: 112,060,162 (GRCm39)	I75V	probably benign	Het
Ndufa7	T	A	17: 34,057,140 (GRCm39)	S107T	probably damaging	Het
Niban3	T	A	8: 72,057,671 (GRCm39)	C516S	possibly damaging	Het
Nip7	T	A	8: 107,783,968 (GRCm39)	C69*	probably null	Het
Nipa2	A	T	7: 55,583,089 (GRCm39)	W219R	probably damaging	Het
Oas2	A	C	5: 120,887,775 (GRCm39)	S22A	unknown	Het
Obscn	A	G	11: 59,022,483 (GRCm39)	V754A	probably benign	Het
Or4a76	G	A	2: 89,461,012 (GRCm39)	P77S	probably damaging	Het
Osbpl1a	C	T	18: 13,066,642 (GRCm39)	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,612,606 (GRCm39)	Y522F	probably benign	Het
Pced1a	T	G	2: 130,261,744 (GRCm39)	D303A	possibly damaging	Het
Peli1	T	A	11: 21,098,190 (GRCm39)	Y308*	probably null	Het
Pfas	T	A	11: 68,879,481 (GRCm39)	R243W		Het
Pik3r5	C	A	11: 68,383,416 (GRCm39)	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,852,428 (GRCm39)	I1135N		Het
Prune1	C	A	3: 95,189,021 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,587,564 (GRCm39)	K926N	probably damaging	Het
Ptpre	A	G	7: 135,269,329 (GRCm39)	N277S	probably benign	Het
Raver2	A	T	4: 100,964,410 (GRCm39)	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,980,857 (GRCm39)	V187A	probably benign	Het
Rgs3	A	G	4: 62,543,391 (GRCm39)	E242G	probably benign	Het
Rims2	T	G	15: 39,381,235 (GRCm39)	S1055R	probably benign	Het
Rnf146	T	C	10: 29,223,640 (GRCm39)	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,378,016 (GRCm39)	S455G	probably benign	Het
Samm50	T	C	15: 84,080,057 (GRCm39)		probably null	Het
Sh3bgr	A	G	16: 96,007,122 (GRCm39)	K31E	probably benign	Het
Slc39a8	T	C	3: 135,592,672 (GRCm39)	I449T	probably damaging	Het
Slc5a3	A	T	16: 91,875,905 (GRCm39)	Y654F	probably benign	Het
Spata1	T	A	3: 146,181,977 (GRCm39)	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,838,512 (GRCm39)		probably benign	Het
Stard13	A	C	5: 150,971,064 (GRCm39)	S848A	probably damaging	Het
Stat2	A	G	10: 128,112,434 (GRCm39)	S25G	possibly damaging	Het
Tet2	C	T	3: 133,186,050 (GRCm39)	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,563,384 (GRCm39)	T670A	probably benign	Het
Tmem266	T	C	9: 55,303,883 (GRCm39)	L3P	unknown	Het
Tns3	A	T	11: 8,442,793 (GRCm39)	D523E	probably benign	Het
Trim3	A	T	7: 105,267,015 (GRCm39)	S455T	probably damaging	Het
Trim31	T	C	17: 37,220,554 (GRCm39)	V490A	probably damaging	Het
Trmt11	A	C	10: 30,466,039 (GRCm39)	N168K	probably benign	Het
Trpc4	G	A	3: 54,198,653 (GRCm39)	V526M	probably damaging	Het
Ttn	C	A	2: 76,749,482 (GRCm39)	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,169,227 (GRCm39)	D377N	probably damaging	Het
Ubl7	A	G	9: 57,821,875 (GRCm39)	T75A	probably damaging	Het
Ugt2b34	T	G	5: 87,049,134 (GRCm39)	D297A	possibly damaging	Het
Usp34	A	T	11: 23,314,458 (GRCm39)	H800L	possibly damaging	Het
Utp3	C	A	5: 88,703,412 (GRCm39)	L314M	probably damaging	Het
Zer1	A	G	2: 30,003,337 (GRCm39)	Y27H	probably damaging	Het

Other mutations in Ces5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ces5a	APN	8	94,252,172 (GRCm39)	critical splice donor site	probably null
IGL01520:Ces5a	APN	8	94,246,206 (GRCm39)	missense	probably benign	0.08
IGL01674:Ces5a	APN	8	94,228,847 (GRCm39)	missense	probably damaging	1.00
IGL02257:Ces5a	APN	8	94,252,226 (GRCm39)	missense	probably benign	0.00
IGL02456:Ces5a	APN	8	94,255,272 (GRCm39)	splice site	probably benign
IGL03027:Ces5a	APN	8	94,249,742 (GRCm39)	splice site	probably null
IGL03051:Ces5a	APN	8	94,255,226 (GRCm39)	missense	probably damaging	1.00
IGL03264:Ces5a	APN	8	94,228,898 (GRCm39)	missense	possibly damaging	0.74
IGL03290:Ces5a	APN	8	94,246,260 (GRCm39)	missense	probably damaging	1.00
R0115:Ces5a	UTSW	8	94,228,811 (GRCm39)	missense	probably damaging	0.98
R0124:Ces5a	UTSW	8	94,255,183 (GRCm39)	missense	probably damaging	1.00
R0521:Ces5a	UTSW	8	94,252,286 (GRCm39)	missense	probably damaging	1.00
R1404:Ces5a	UTSW	8	94,228,809 (GRCm39)	missense	probably damaging	1.00
R1404:Ces5a	UTSW	8	94,228,809 (GRCm39)	missense	probably damaging	1.00
R1524:Ces5a	UTSW	8	94,252,293 (GRCm39)	missense	probably damaging	0.96
R1843:Ces5a	UTSW	8	94,240,859 (GRCm39)	missense	probably damaging	1.00
R2029:Ces5a	UTSW	8	94,261,205 (GRCm39)	missense	probably damaging	1.00
R2135:Ces5a	UTSW	8	94,226,369 (GRCm39)	missense	probably benign	0.33
R2146:Ces5a	UTSW	8	94,261,327 (GRCm39)	missense	probably benign	0.03
R2973:Ces5a	UTSW	8	94,255,132 (GRCm39)	missense	probably damaging	1.00
R3755:Ces5a	UTSW	8	94,255,130 (GRCm39)	missense	probably benign	0.15
R4755:Ces5a	UTSW	8	94,262,305 (GRCm39)	missense	probably benign	0.39
R5072:Ces5a	UTSW	8	94,261,296 (GRCm39)	missense	probably damaging	1.00
R5278:Ces5a	UTSW	8	94,252,266 (GRCm39)	missense	probably damaging	1.00
R5419:Ces5a	UTSW	8	94,226,059 (GRCm39)	missense	unknown
R5825:Ces5a	UTSW	8	94,252,295 (GRCm39)	missense	probably damaging	1.00
R6318:Ces5a	UTSW	8	94,261,211 (GRCm39)	missense	probably damaging	1.00
R6925:Ces5a	UTSW	8	94,249,685 (GRCm39)	splice site	probably null
R6950:Ces5a	UTSW	8	94,257,402 (GRCm39)	missense	probably benign	0.10
R7148:Ces5a	UTSW	8	94,228,950 (GRCm39)	missense	probably damaging	1.00
R7256:Ces5a	UTSW	8	94,226,154 (GRCm39)	missense	probably benign	0.13
R7290:Ces5a	UTSW	8	94,261,311 (GRCm39)	missense	probably damaging	1.00
R7674:Ces5a	UTSW	8	94,240,897 (GRCm39)	missense	probably damaging	1.00
R7815:Ces5a	UTSW	8	94,247,623 (GRCm39)	missense	possibly damaging	0.79
R8150:Ces5a	UTSW	8	94,257,430 (GRCm39)	missense	probably damaging	1.00
R8771:Ces5a	UTSW	8	94,255,249 (GRCm39)	missense	possibly damaging	0.85
R9502:Ces5a	UTSW	8	94,262,308 (GRCm39)	nonsense	probably null
R9518:Ces5a	UTSW	8	94,257,430 (GRCm39)	missense	probably damaging	1.00
R9745:Ces5a	UTSW	8	94,228,814 (GRCm39)	missense	probably damaging	0.97
X0024:Ces5a	UTSW	8	94,240,841 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGGAAATAGGTTCATTTCCC -3'
(R):5'- CGCCTTTTCTCAGGACAAGTG -3'

Sequencing Primer
(F):5'- GGGAAATAGGTTCATTTCCCCTAAC -3'
(R):5'- GCCTTTTCTCAGGACAAGTGTTAATC -3'

Posted On

2019-10-07