Mutagenetix > Incidental Mutation

Incidental Mutation 'R2135:Ces5a'

235723

Institutional Source

Beutler Lab

Gene Symbol

Ces5a

Ensembl Gene

ENSMUSG00000058019

Gene Name

carboxylesterase 5A

Synonyms

1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik

MMRRC Submission

040138-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94225692-94262458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94226369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 481 (E481D)

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: E481D

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: E481D

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

noncoding transcript
Transcript: ENSMUST00000080391

SMART Domains

Protein: ENSMUSP00000079254
Gene: ENSMUSG00000058019

Domain	Start	End	E-Value	Type
Pfam:COesterase	83	208	2.3e-23	PFAM
low complexity region	221	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212009
AA Change: E481D

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212690

Meta Mutation Damage Score

0.4264

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,509 (GRCm39)	H116Q	probably benign	Het
Adamts16	C	A	13: 70,949,126 (GRCm39)	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,672,676 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,114,509 (GRCm39)	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,032,498 (GRCm39)	L253P	probably damaging	Het
Arap3	T	C	18: 38,107,509 (GRCm39)	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,403,712 (GRCm39)	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,868,760 (GRCm39)	I574N	probably damaging	Het
Cecr2	C	T	6: 120,697,923 (GRCm39)	T74M	probably damaging	Het
Cfap74	C	G	4: 155,514,397 (GRCm39)	N544K	probably damaging	Het
Cfap74	T	A	4: 155,514,408 (GRCm39)	L548Q	probably damaging	Het
Cfb	C	T	17: 35,076,254 (GRCm39)	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,845,433 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,123,604 (GRCm39)	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,429 (GRCm39)		probably benign	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Ermp1	T	C	19: 29,623,465 (GRCm39)	D119G	possibly damaging	Het
Ext1	G	T	15: 52,965,140 (GRCm39)	Q409K	possibly damaging	Het
Fat4	A	T	3: 39,034,882 (GRCm39)	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,941,771 (GRCm39)	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,583 (GRCm39)	T305A	probably benign	Het
Gbx1	G	T	5: 24,731,220 (GRCm39)	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,044,638 (GRCm39)	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,700,726 (GRCm39)	D572V	probably damaging	Het
Idh1	A	C	1: 65,201,078 (GRCm39)	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,356,551 (GRCm39)	Y330C	probably damaging	Het
Kdm4a	A	G	4: 117,999,656 (GRCm39)	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,215 (GRCm39)	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,070,609 (GRCm39)	S96P	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Marchf6	A	T	15: 31,509,910 (GRCm39)	C26*	probably null	Het
Msra	G	A	14: 64,360,657 (GRCm39)	P228L	probably damaging	Het
Mycbp2	A	T	14: 103,383,378 (GRCm39)	D395E	probably benign	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Ncr1	C	A	7: 4,343,756 (GRCm39)		probably benign	Het
Nkd1	T	C	8: 89,318,278 (GRCm39)	I201T	probably benign	Het
Nsrp1	A	T	11: 76,945,834 (GRCm39)		probably benign	Het
Or2t48	A	C	11: 58,420,611 (GRCm39)	I67S	probably damaging	Het
Or7e177	T	A	9: 20,211,593 (GRCm39)	D32E	probably benign	Het
Pate5	A	C	9: 35,750,479 (GRCm39)		probably null	Het
Pkdrej	T	C	15: 85,700,707 (GRCm39)	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,526,225 (GRCm39)	H281Q	possibly damaging	Het
Ppp2r3d	A	C	9: 101,088,757 (GRCm39)	M522R	probably damaging	Het
Prdm12	T	C	2: 31,530,325 (GRCm39)	F72S	possibly damaging	Het
Prima1	A	T	12: 103,168,949 (GRCm39)	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,627,965 (GRCm39)	H142R	probably benign	Het
Rasgrf2	G	A	13: 92,120,374 (GRCm39)	A793V	probably benign	Het
Rbsn	T	A	6: 92,166,854 (GRCm39)	M597L	probably benign	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Rp9	T	C	9: 22,379,425 (GRCm39)	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,523,135 (GRCm39)	S211G	probably damaging	Het
Shank2	C	T	7: 143,964,971 (GRCm39)	P1070S	probably damaging	Het
Sla	A	G	15: 66,654,563 (GRCm39)	V241A	probably benign	Het
Slc25a40	A	G	5: 8,477,489 (GRCm39)	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,685,608 (GRCm39)	S164P	probably benign	Het
Slc7a5	A	T	8: 122,610,444 (GRCm39)	W457R	probably null	Het
Slco6c1	A	G	1: 97,032,542 (GRCm39)	M303T	probably benign	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Tecta	A	C	9: 42,251,581 (GRCm39)	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,319,313 (GRCm39)	H280Q	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,592,107 (GRCm39)	L336P	probably damaging	Het
Tmem94	A	G	11: 115,685,575 (GRCm39)	I943V	probably benign	Het
Tshb	A	G	3: 102,685,464 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,818,035 (GRCm39)	V116A	probably benign	Het
Vmn2r76	A	G	7: 85,880,219 (GRCm39)	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,295,067 (GRCm39)	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,292,826 (GRCm39)	R2108G	possibly 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
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'- ATCATAGACTGGCCACGGAG -3'
(R):5'- TCCTGGGGCATCTTGGAAAC -3'

Sequencing Primer
(F):5'- CCACGGAGGCAGGTCGG -3'
(R):5'- AGAGCTCTGCGTCCAAATG -3'

Posted On

2014-10-01