Mutagenetix > Incidental Mutation

Incidental Mutation 'R2029:Ces5a'

220975

Institutional Source

Beutler Lab

Gene Symbol

Ces5a

Ensembl Gene

ENSMUSG00000058019

Gene Name

carboxylesterase 5A

Synonyms

1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik

MMRRC Submission

040036-MU

Accession Numbers

Essential gene?

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

Stock #

R2029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94225692-94262458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94261205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 74 (L74Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148373 (fasta)

Gene Model

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

AlphaFold

Q6AW46

Predicted Effect

probably damaging
Transcript: ENSMUST00000077816
AA Change: L70Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: L70Q

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 damaging
Transcript: ENSMUST00000212009
AA Change: L70Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212722
AA Change: L74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6471

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (97/99)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	G	8: 25,140,893 (GRCm39)	G286A	probably damaging	Het
Adcy1	G	A	11: 7,089,142 (GRCm39)	A519T	probably benign	Het
Anxa2	T	A	9: 69,371,762 (GRCm39)	S2T	possibly damaging	Het
Ap3m1	G	A	14: 21,089,217 (GRCm39)	S261L	possibly damaging	Het
Baz2b	A	T	2: 59,743,067 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,507,090 (GRCm39)	S497T	probably benign	Het
Cdh11	A	G	8: 103,406,404 (GRCm39)	F23S	probably benign	Het
Cdh16	A	C	8: 105,344,434 (GRCm39)	L540R	probably damaging	Het
Cfap69	A	G	5: 5,654,306 (GRCm39)	S543P	probably damaging	Het
Cfap74	T	C	4: 155,526,538 (GRCm39)	I763T	possibly damaging	Het
Cma1	T	A	14: 56,181,191 (GRCm39)	R58S	possibly damaging	Het
Csmd3	C	T	15: 47,701,975 (GRCm39)	D1599N	probably damaging	Het
Cyld	A	G	8: 89,471,940 (GRCm39)	K857R	probably benign	Het
Cyp3a16	T	C	5: 145,388,667 (GRCm39)	D270G	probably damaging	Het
D1Pas1	T	C	1: 186,700,286 (GRCm39)	S72P	possibly damaging	Het
Ddx3y	T	C	Y: 1,266,389 (GRCm39)	E331G	probably benign	Het
Degs1l	T	A	1: 180,882,496 (GRCm39)	I86K	probably benign	Het
Dis3l2	T	C	1: 86,782,189 (GRCm39)		probably benign	Het
Dop1a	G	T	9: 86,403,418 (GRCm39)	W1539C	probably damaging	Het
Dop1b	A	G	16: 93,566,323 (GRCm39)	K917E	probably benign	Het
Ecpas	G	A	4: 58,844,165 (GRCm39)	R534*	probably null	Het
Efcab3	T	C	11: 104,990,851 (GRCm39)	I5462T	probably damaging	Het
Eif1ad15	A	T	12: 88,288,191 (GRCm39)	S21T	unknown	Het
Epo	A	G	5: 137,483,447 (GRCm39)		probably benign	Het
Figla	T	A	6: 85,997,624 (GRCm39)		probably benign	Het
Flvcr1	T	C	1: 190,753,353 (GRCm39)	D273G	probably benign	Het
Fryl	T	A	5: 73,179,465 (GRCm39)	R304*	probably null	Het
Gcm1	T	G	9: 77,972,326 (GRCm39)	D422E	possibly damaging	Het
Get3	A	T	8: 85,746,403 (GRCm39)	Y148*	probably null	Het
Ggt6	A	G	11: 72,328,367 (GRCm39)	D251G	possibly damaging	Het
Git2	A	G	5: 114,904,511 (GRCm39)		probably null	Het
Gm18856	A	T	13: 14,139,376 (GRCm39)		probably benign	Het
Gm20939	T	A	17: 95,183,252 (GRCm39)		probably benign	Het
Gpr176	A	G	2: 118,109,913 (GRCm39)	Y449H	probably benign	Het
H2-Eb1	A	G	17: 34,533,366 (GRCm39)	E196G	probably damaging	Het
H2-M10.6	A	G	17: 37,124,799 (GRCm39)	T239A	possibly damaging	Het
Haus5	T	C	7: 30,358,825 (GRCm39)	N237S	possibly damaging	Het
Hectd3	T	C	4: 116,857,882 (GRCm39)	M605T	probably damaging	Het
Hps3	T	C	3: 20,084,691 (GRCm39)	I166V	probably benign	Het
Ighv5-21	A	T	12: 114,286,434 (GRCm39)		probably benign	Het
Kdm6b	C	T	11: 69,294,418 (GRCm39)	G1218D	unknown	Het
Klhl30	A	G	1: 91,285,636 (GRCm39)		probably null	Het
Kmt2a	A	T	9: 44,729,747 (GRCm39)	S3523R	probably benign	Het
Lnpep	A	T	17: 17,788,661 (GRCm39)	N481K	probably damaging	Het
Lrp1b	T	C	2: 41,231,861 (GRCm39)	H1203R	probably benign	Het
Lrrc8a	C	T	2: 30,146,661 (GRCm39)	R492W	probably damaging	Het
Magel2	T	A	7: 62,030,342 (GRCm39)	V1082D	unknown	Het
Memo1	A	C	17: 74,552,049 (GRCm39)	H82Q	probably null	Het
Myh13	A	T	11: 67,252,115 (GRCm39)	T1408S	probably benign	Het
Myh2	A	T	11: 67,085,451 (GRCm39)	N1792Y	possibly damaging	Het
Myo1e	A	T	9: 70,275,969 (GRCm39)	N728I	possibly damaging	Het
Myo1e	T	C	9: 70,285,997 (GRCm39)		probably benign	Het
Myo5c	T	C	9: 75,196,337 (GRCm39)		probably benign	Het
Or11l3	T	A	11: 58,516,319 (GRCm39)	L184F	probably damaging	Het
Or1e19	A	G	11: 73,316,188 (GRCm39)	V207A	probably benign	Het
Or2d2b	T	C	7: 106,705,643 (GRCm39)	I142V	probably benign	Het
Or4c11c	T	A	2: 88,661,749 (GRCm39)	M96K	possibly damaging	Het
Or51g1	T	A	7: 102,633,478 (GRCm39)	T298S	probably damaging	Het
Or52e3	T	C	7: 102,868,967 (GRCm39)	F14S	probably damaging	Het
Parp2	C	T	14: 51,047,543 (GRCm39)	A18V	probably benign	Het
Peli1	T	A	11: 21,098,110 (GRCm39)	C282S	probably damaging	Het
Phf8-ps	G	T	17: 33,286,598 (GRCm39)	S68*	probably null	Het
Piezo2	T	C	18: 63,252,006 (GRCm39)	M404V	possibly damaging	Het
Pkn1	T	A	8: 84,404,592 (GRCm39)	Q496L	possibly damaging	Het
Pla2r1	A	T	2: 60,262,317 (GRCm39)	F1093L	probably damaging	Het
Ppp2r3d	A	G	9: 101,022,680 (GRCm39)	V323A	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prg2	C	T	2: 84,812,342 (GRCm39)		probably benign	Het
Ptprb	G	A	10: 116,182,958 (GRCm39)	G1545S	probably benign	Het
Rbm19	A	G	5: 120,258,307 (GRCm39)	D174G	possibly damaging	Het
Rhbdf2	T	A	11: 116,491,974 (GRCm39)	T526S	probably damaging	Het
Rpusd4	A	G	9: 35,179,310 (GRCm39)	N42S	probably benign	Het
Ryr3	T	A	2: 112,477,361 (GRCm39)	Q4455L	possibly damaging	Het
Sema4a	G	T	3: 88,358,668 (GRCm39)	H30Q	probably damaging	Het
Skint1	G	A	4: 111,878,653 (GRCm39)		probably null	Het
Slc1a3	A	G	15: 8,675,153 (GRCm39)	V284A	probably benign	Het
Slc30a9	A	T	5: 67,497,318 (GRCm39)	K288*	probably null	Het
Slc36a1	G	T	11: 55,119,164 (GRCm39)	A380S	probably benign	Het
Slc47a1	G	A	11: 61,268,833 (GRCm39)		probably benign	Het
Snx19	A	T	9: 30,340,296 (GRCm39)	E478V	probably benign	Het
Spag6	T	C	2: 18,738,916 (GRCm39)		probably benign	Het
Stag1	A	T	9: 100,668,740 (GRCm39)	T223S	probably damaging	Het
Terb1	A	T	8: 105,224,732 (GRCm39)		probably benign	Het
Terf1	A	G	1: 15,876,170 (GRCm39)	D90G	possibly damaging	Het
Tex15	A	G	8: 34,061,302 (GRCm39)	D518G	probably damaging	Het
Tmem174	T	A	13: 98,773,546 (GRCm39)	M95L	possibly damaging	Het
Tnnt3	GTCCAGGCATCTC	GTC	7: 142,066,364 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,896,803 (GRCm39)	D8G	probably benign	Het
Vmn2r105	T	C	17: 20,444,840 (GRCm39)	T551A	probably damaging	Het
Vmn2r107	A	G	17: 20,595,549 (GRCm39)	I701V	probably benign	Het
Vmn2r13	A	C	5: 109,339,943 (GRCm39)	F11V	probably benign	Het
Vmn2r85	G	C	10: 130,261,443 (GRCm39)	S298*	probably null	Het
Wdr6	C	G	9: 108,452,554 (GRCm39)	W443S	probably damaging	Het
Wipi1	A	G	11: 109,474,016 (GRCm39)	V210A	probably damaging	Het
Zfp317	A	G	9: 19,556,532 (GRCm39)	T47A	probably benign	Het
Zfp61	T	C	7: 23,991,714 (GRCm39)	T146A	probably benign	Het
Zfp964	A	G	8: 70,116,567 (GRCm39)	E389G	unknown	Het
Zfyve16	T	C	13: 92,640,985 (GRCm39)	D1253G	probably damaging	Het
Zpld2	T	C	4: 133,929,669 (GRCm39)	K212R	possibly damaging	Het
Zswim7	G	A	11: 62,158,299 (GRCm39)		probably benign	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
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
R7459:Ces5a	UTSW	8	94,262,369 (GRCm39)	start gained	probably benign
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'- AACAGTGTTCCAGCAGCTCAG -3'
(R):5'- TCCCAAACAGCTTCTCAGTC -3'

Sequencing Primer
(F):5'- AAACGCTCACCCAGGTCTGTG -3'
(R):5'- AAACAGCTTCTCAGTCCTCCC -3'

Posted On

2014-08-25