Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Ces5a'

564273

Institutional Source

Beutler Lab

Gene Symbol

Ces5a

Ensembl Gene

ENSMUSG00000058019

Gene Name

carboxylesterase 5A

Synonyms

1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik

MMRRC Submission

045317-MU

Accession Numbers

Essential gene?

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

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94225692-94262458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94226154 bp (GRCm39)

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: 85,659,923 (GRCm39)	Y790H	probably damaging	Het
Bend3	A	C	10: 43,369,667 (GRCm39)	S7R	probably benign	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,431,997 (GRCm39)	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,288,851 (GRCm39)	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,490 (GRCm39)	S1406P	probably benign	Het
Cep290	A	G	10: 100,382,360 (GRCm39)	T208A	probably damaging	Het
Cep85l	A	C	10: 53,172,351 (GRCm39)	C569W	probably damaging	Het
Clca3a2	T	A	3: 144,796,608 (GRCm39)	I200F	probably damaging	Het
Cmas	G	A	6: 142,716,312 (GRCm39)	D251N	probably damaging	Het
Ctcfl	G	T	2: 172,960,268 (GRCm39)	A105E	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dctn6	A	T	8: 34,557,962 (GRCm39)	I170N	probably damaging	Het
Dnah2	T	C	11: 69,321,920 (GRCm39)	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,724,988 (GRCm39)	V465I	possibly damaging	Het
Dzip1	T	C	14: 119,123,058 (GRCm39)	T646A	probably benign	Het
Etv4	T	A	11: 101,675,151 (GRCm39)		probably null	Het
Exoc3l2	T	C	7: 19,218,628 (GRCm39)	V549A	unknown	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
Fry	T	G	5: 150,390,251 (GRCm39)	I179S		Het
Galntl5	A	G	5: 25,400,298 (GRCm39)	H109R	probably benign	Het
Garem1	C	A	18: 21,281,811 (GRCm39)	G182W	probably damaging	Het
Gm5916	A	T	9: 36,032,285 (GRCm39)	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,615,709 (GRCm39)	F271I	probably benign	Het
Hivep2	G	T	10: 14,004,845 (GRCm39)	S481I	probably benign	Het
Homez	T	A	14: 55,094,877 (GRCm39)	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,210,722 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,678,957 (GRCm39)	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,617,212 (GRCm39)		probably null	Het
Kif5b	A	G	18: 6,225,340 (GRCm39)	V230A	probably damaging	Het
Ldlr	T	A	9: 21,657,040 (GRCm39)	V719E	probably benign	Het
Lsm7	G	A	10: 80,689,565 (GRCm39)	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,710,988 (GRCm39)	D90E	probably benign	Het
Mmrn1	A	G	6: 60,953,098 (GRCm39)	K460E	probably damaging	Het
Myh10	A	C	11: 68,681,515 (GRCm39)	N1061H	probably damaging	Het
Nepn	A	G	10: 52,277,089 (GRCm39)	Q275R	probably benign	Het
Noc3l	A	T	19: 38,800,800 (GRCm39)	D227E	probably benign	Het
Nploc4	G	T	11: 120,319,376 (GRCm39)	S61R	probably benign	Het
Nr4a2	T	C	2: 57,002,381 (GRCm39)	Y24C	probably damaging	Het
Nup160	T	A	2: 90,553,699 (GRCm39)	I1143N	probably damaging	Het
Or14a256	G	T	7: 86,264,873 (GRCm39)	H327N	probably benign	Het
Or4a15	A	T	2: 89,192,838 (GRCm39)	Y312N	probably benign	Het
Or8c17	T	A	9: 38,180,004 (GRCm39)	M57K	probably damaging	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap1	A	T	1: 54,532,366 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,633 (GRCm39)	H229R	probably damaging	Het
Plcl1	A	G	1: 55,737,377 (GRCm39)	Q906R	probably benign	Het
Ppfia3	T	C	7: 44,991,167 (GRCm39)	N1018S	probably benign	Het
Pramel24	T	A	4: 143,452,849 (GRCm39)	D93E	probably benign	Het
Prkd1	A	G	12: 50,435,125 (GRCm39)	V534A	possibly damaging	Het
Pygm	A	T	19: 6,435,926 (GRCm39)	I126F	probably benign	Het
Rag1	T	C	2: 101,472,415 (GRCm39)	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 92,032,637 (GRCm39)	Q560*	probably null	Het
Rbp3	A	T	14: 33,684,540 (GRCm39)	I1190F	possibly damaging	Het
Reln	T	C	5: 22,183,921 (GRCm39)	K1693E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsph3a	A	G	17: 8,165,002 (GRCm39)	T121A	probably benign	Het
Rufy3	A	G	5: 88,762,806 (GRCm39)	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,502,591 (GRCm39)	Q3548*	probably null	Het
Sardh	A	T	2: 27,108,824 (GRCm39)	V637D	probably benign	Het
Spata16	T	C	3: 26,722,016 (GRCm39)	V179A	probably benign	Het
Spopfm2	T	C	3: 94,083,667 (GRCm39)	E48G	probably benign	Het
Tbc1d30	G	A	10: 121,124,870 (GRCm39)	T319I	probably damaging	Het
Tlr2	T	A	3: 83,744,913 (GRCm39)	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,109,237 (GRCm39)		probably null	Het
Vmn1r113	T	A	7: 20,521,370 (GRCm39)	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,434,036 (GRCm39)	Y210S	probably damaging	Het
Zbbx	A	T	3: 74,947,205 (GRCm39)	H670Q	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
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
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'- GCAGATTAGCGCACAGAAATC -3'
(R):5'- ACTGGGCTAACTTTGCCAGG -3'

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

Posted On

2019-06-26