Mutagenetix > Incidental Mutation

Incidental Mutation 'R4780:Ces2a'

366426

Institutional Source

Beutler Lab

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

Ces6, 9130231C15Rik

MMRRC Submission

041993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104734003-104741634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104737208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 184 (F184S)

Ref Sequence

ENSEMBL: ENSMUSP00000127346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034346] [ENSMUST00000161824] [ENSMUST00000164182]

AlphaFold

Q8QZR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034346
AA Change: F184S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: F184S

Domain	Start	End	E-Value	Type
Pfam:COesterase	9	537	1.2e-171	PFAM
Pfam:Abhydrolase_3	142	267	2.9e-11	PFAM
Pfam:Peptidase_S9	156	347	7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159303

Predicted Effect

probably benign
Transcript: ENSMUST00000161824

Predicted Effect

probably damaging
Transcript: ENSMUST00000164182
AA Change: F184S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: F184S

Domain	Start	End	E-Value	Type
Pfam:COesterase	8	276	5e-110	PFAM
Pfam:Abhydrolase_3	142	267	2.6e-11	PFAM
Pfam:Peptidase_S9	156	275	3e-7	PFAM
Pfam:COesterase	259	504	8.3e-47	PFAM

Meta Mutation Damage Score

0.4134

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (107/109)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,370	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,558,764		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,308,846	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,415,635		noncoding transcript	Het
Abcc6	T	A	7: 45,996,691	K791N	probably benign	Het
Adcy4	T	G	14: 55,775,036	Q550P	probably benign	Het
Add3	C	A	19: 53,234,792	A325E	possibly damaging	Het
Agbl4	T	A	4: 111,657,331	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,886,387	T392K	probably damaging	Het
Akna	C	A	4: 63,379,254	M854I	probably benign	Het
Ankrd44	T	C	1: 54,763,757	N194S	probably benign	Het
Anks1b	A	G	10: 89,873,732	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,609,172	F154L	probably benign	Het
Apbb2	T	A	5: 66,362,817	N477I	probably damaging	Het
Apobec3	T	C	15: 79,899,024	C101R	possibly damaging	Het
Arnt	G	T	3: 95,488,385	V410F	probably damaging	Het
Arsg	G	A	11: 109,534,013	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,305,270	D79E	probably damaging	Het
BC067074	A	G	13: 113,317,858	Y146C	probably damaging	Het
Cd44	G	T	2: 102,861,565	A126D	probably damaging	Het
Cd69	A	G	6: 129,271,355	I56T	probably damaging	Het
Cep120	G	A	18: 53,724,536	P286S	probably benign	Het
Chrng	A	G	1: 87,207,524	N185S	probably damaging	Het
Cldn6	A	T	17: 23,681,247	M62L	probably benign	Het
Cntn6	T	A	6: 104,845,784	N765K	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Depdc1a	A	G	3: 159,526,706	N698S	probably benign	Het
Dnah2	A	T	11: 69,473,871	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,353,014	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Dync1h1	T	C	12: 110,661,196	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057	P297L	probably benign	Het
E2f5	A	G	3: 14,587,319	T72A	probably benign	Het
Ephb6	G	T	6: 41,616,139	R437L	probably damaging	Het
Erbb4	T	C	1: 68,298,314	H615R	probably damaging	Het
Erbin	T	C	13: 103,884,206	T82A	probably damaging	Het
Eri2	T	C	7: 119,785,680	N533D	probably benign	Het
Fkbp9	A	G	6: 56,850,716	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,583,211	D47E	probably damaging	Het
Gm21850	G	A	2: 154,056,499		noncoding transcript	Het
Gm5141	T	A	13: 62,774,950	Y135F	unknown	Het
Gm7353	T	A	7: 3,110,725		noncoding transcript	Het
Gm8765	C	A	13: 50,701,080	S251R	probably damaging	Het
Gm9925	T	C	18: 74,065,273		probably benign	Het
Greb1l	T	C	18: 10,541,792	S1180P	probably benign	Het
Hist1h2ag	G	A	13: 22,042,909	Q7*	probably null	Het
Kiz	A	G	2: 146,889,246	T192A	possibly damaging	Het
Klhl24	T	A	16: 20,106,958	C79S	probably damaging	Het
Map3k11	A	G	19: 5,690,938	H231R	probably damaging	Het
Mbd4	C	A	6: 115,849,384	R194S	probably benign	Het
Mettl21e	A	C	1: 44,211,143	S34R	probably benign	Het
Mrps5	T	C	2: 127,598,241	V245A	probably benign	Het
Mtrf1	T	C	14: 79,401,688	Y87H	probably benign	Het
Myh15	T	C	16: 49,120,057	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248	I176L	probably benign	Het
Nfkb2	T	A	19: 46,309,922	L555Q	probably damaging	Het
Nhlrc3	T	A	3: 53,458,567	E168D	probably benign	Het
Nlrp5	T	A	7: 23,435,778	C949S	probably damaging	Het
Nup155	C	A	15: 8,157,703	A1372E	probably benign	Het
Nynrin	G	T	14: 55,863,263	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,370,321	N275Y	probably damaging	Het
Olfr1110	C	T	2: 87,135,877	S148N	probably damaging	Het
Olfr1302	A	G	2: 111,780,845	D175G	probably damaging	Het
Olfr1480	A	G	19: 13,529,955	N138S	probably benign	Het
Olfr912	A	G	9: 38,581,969	T231A	possibly damaging	Het
Olr1	A	T	6: 129,488,876	S56T	probably damaging	Het
Ovol2	A	T	2: 144,331,283		probably benign	Het
Pcdha6	A	T	18: 36,969,853	I700F	probably damaging	Het
Prkcz	C	T	4: 155,289,702	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,586,773	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,673,346		probably benign	Het
Rapgef2	A	G	3: 79,169,769		probably benign	Het
Rbl1	A	G	2: 157,174,804	V625A	probably benign	Het
Rbm38	G	T	2: 173,022,151	G38C	probably damaging	Het
Reg1	T	G	6: 78,426,350	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,874,334	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,270,153	V183I	probably benign	Het
Rims1	T	C	1: 22,291,105	Q1186R	probably damaging	Het
Ryr1	A	G	7: 29,095,097	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,210,610	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,506,193	I690F	probably damaging	Het
Sdk1	A	G	5: 141,959,238	D304G	probably damaging	Het
Skint6	T	C	4: 113,236,397	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,777,261	T200S	probably benign	Het
Slc34a2	C	T	5: 53,069,451	R639C	probably damaging	Het
Smap1	A	T	1: 23,853,436	M149K	probably benign	Het
Sorcs1	T	C	19: 50,143,981		probably benign	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Spata13	G	A	14: 60,753,907	W366*	probably null	Het
Strip1	G	A	3: 107,626,998	T136I	probably benign	Het
Tacr1	A	T	6: 82,557,072	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,571,256		probably benign	Het
Tcaf2	T	C	6: 42,628,062	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,778,443	T1454I	possibly damaging	Het
Ttc30a2	A	C	2: 75,977,576	C197W	probably benign	Het
Ttn	A	T	2: 76,914,583	M5374K	probably benign	Het
Uts2r	G	A	11: 121,160,879	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,984,583	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,018,150	T778S	probably benign	Het
Xrn1	A	T	9: 95,974,744		probably benign	Het
Zfp35	A	T	18: 24,003,269	K223N	probably damaging	Het
Zfp764	T	C	7: 127,404,771	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,558,647	Y11C	probably damaging	Het

Other mutations in Ces2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Ces2a	APN	8	104741415	makesense	probably null
IGL02135:Ces2a	APN	8	104740181	missense	probably benign	0.00
IGL02529:Ces2a	APN	8	104737219	splice site	probably benign
IGL02625:Ces2a	APN	8	104740278	critical splice donor site	probably null
IGL02869:Ces2a	APN	8	104739059	missense	probably damaging	1.00
IGL03265:Ces2a	APN	8	104737443	missense	possibly damaging	0.55
IGL03349:Ces2a	APN	8	104734080	missense	probably damaging	0.99
R0010:Ces2a	UTSW	8	104741396	missense	probably benign	0.00
R0318:Ces2a	UTSW	8	104740824	missense	probably damaging	1.00
R0477:Ces2a	UTSW	8	104737537	missense	probably damaging	0.99
R0561:Ces2a	UTSW	8	104737533	missense	probably benign	0.35
R0619:Ces2a	UTSW	8	104736110	missense	probably benign	0.00
R1665:Ces2a	UTSW	8	104737555	splice site	probably benign
R1737:Ces2a	UTSW	8	104740824	missense	probably damaging	0.98
R2266:Ces2a	UTSW	8	104740190	missense	probably benign	0.02
R2267:Ces2a	UTSW	8	104740190	missense	probably benign	0.02
R2269:Ces2a	UTSW	8	104740190	missense	probably benign	0.02
R2288:Ces2a	UTSW	8	104737437	missense	probably damaging	1.00
R2656:Ces2a	UTSW	8	104736134	missense	probably benign	0.00
R3176:Ces2a	UTSW	8	104739378	splice site	probably benign
R3906:Ces2a	UTSW	8	104739308	missense	probably benign	0.00
R4344:Ces2a	UTSW	8	104737134	missense	probably damaging	1.00
R4708:Ces2a	UTSW	8	104737306	missense	probably benign	0.14
R5434:Ces2a	UTSW	8	104737409	missense	probably damaging	0.98
R5763:Ces2a	UTSW	8	104736124	missense	probably benign	0.00
R5828:Ces2a	UTSW	8	104739324	missense	probably benign	0.00
R6359:Ces2a	UTSW	8	104736078	missense	probably benign	0.00
R6440:Ces2a	UTSW	8	104741322	missense	probably benign	0.12
R7066:Ces2a	UTSW	8	104740248	missense	probably damaging	0.99
R7267:Ces2a	UTSW	8	104739040	missense	probably benign	0.20
R7395:Ces2a	UTSW	8	104739641	missense	probably benign	0.35
R7455:Ces2a	UTSW	8	104737522	missense	probably damaging	1.00
R7457:Ces2a	UTSW	8	104737389	missense	possibly damaging	0.87
R7567:Ces2a	UTSW	8	104741298	missense	probably benign	0.01
R7683:Ces2a	UTSW	8	104737112	missense	probably benign	0.00
R8328:Ces2a	UTSW	8	104737366	missense	probably damaging	1.00
R8336:Ces2a	UTSW	8	104739033	missense	probably damaging	0.97
R9183:Ces2a	UTSW	8	104734142	missense	possibly damaging	0.95
R9794:Ces2a	UTSW	8	104741264	missense	probably benign	0.16
X0022:Ces2a	UTSW	8	104736142	missense	probably damaging	1.00
Z1176:Ces2a	UTSW	8	104734006	unclassified	probably benign
Z1176:Ces2a	UTSW	8	104734850	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGGGCAGTCTAGATGAGC -3'
(R):5'- TGAGACTCCAAATATAGTGACCCTG -3'

Sequencing Primer
(F):5'- CAGTCTAGATGAGCTTGGGC -3'
(R):5'- GTCACGGTTGCCTCCAAAGTAAG -3'

Posted On

2015-12-21