Mutagenetix > Incidental Mutation

Incidental Mutation 'R4780:Ces2a'

366426

Institutional Source

Beutler Lab

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

9130231C15Rik, Ces6

MMRRC Submission

041993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105460635-105468266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105463840 bp (GRCm39)

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: 137,771,131 (GRCm39)	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,777,738 (GRCm39)		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,220,144 (GRCm39)	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,382,069 (GRCm39)		noncoding transcript	Het
Abcc6	T	A	7: 45,646,115 (GRCm39)	K791N	probably benign	Het
Adcy4	T	G	14: 56,012,493 (GRCm39)	Q550P	probably benign	Het
Add3	C	A	19: 53,223,223 (GRCm39)	A325E	possibly damaging	Het
Agbl4	T	A	4: 111,514,528 (GRCm39)	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,864,108 (GRCm39)	T392K	probably damaging	Het
Akna	C	A	4: 63,297,491 (GRCm39)	M854I	probably benign	Het
Ankrd44	T	C	1: 54,802,916 (GRCm39)	N194S	probably benign	Het
Anks1b	A	G	10: 89,709,594 (GRCm39)	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,586,889 (GRCm39)	F154L	probably benign	Het
Apbb2	T	A	5: 66,520,160 (GRCm39)	N477I	probably damaging	Het
Apobec3	T	C	15: 79,783,225 (GRCm39)	C101R	possibly damaging	Het
Arnt	G	T	3: 95,395,696 (GRCm39)	V410F	probably damaging	Het
Arsg	G	A	11: 109,424,839 (GRCm39)	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,232,992 (GRCm39)	D79E	probably damaging	Het
Cd44	G	T	2: 102,691,910 (GRCm39)	A126D	probably damaging	Het
Cd69	A	G	6: 129,248,318 (GRCm39)	I56T	probably damaging	Het
Cep120	G	A	18: 53,857,608 (GRCm39)	P286S	probably benign	Het
Chrng	A	G	1: 87,135,246 (GRCm39)	N185S	probably damaging	Het
Cldn6	A	T	17: 23,900,221 (GRCm39)	M62L	probably benign	Het
Cntn6	T	A	6: 104,822,745 (GRCm39)	N765K	probably damaging	Het
Cspg4b	A	G	13: 113,454,392 (GRCm39)	Y146C	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857 (GRCm39)	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Depdc1a	A	G	3: 159,232,343 (GRCm39)	N698S	probably benign	Het
Dnah2	A	T	11: 69,364,697 (GRCm39)	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,392,174 (GRCm39)	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Dync1h1	T	C	12: 110,627,630 (GRCm39)	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
E2f5	A	G	3: 14,652,379 (GRCm39)	T72A	probably benign	Het
Ephb6	G	T	6: 41,593,073 (GRCm39)	R437L	probably damaging	Het
Erbb4	T	C	1: 68,337,473 (GRCm39)	H615R	probably damaging	Het
Erbin	T	C	13: 104,020,714 (GRCm39)	T82A	probably damaging	Het
Eri2	T	C	7: 119,384,903 (GRCm39)	N533D	probably benign	Het
Fkbp9	A	G	6: 56,827,701 (GRCm39)	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709 (GRCm39)	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,473,223 (GRCm39)	D47E	probably damaging	Het
Gm21850	G	A	2: 153,898,419 (GRCm39)		noncoding transcript	Het
Gm5141	T	A	13: 62,922,764 (GRCm39)	Y135F	unknown	Het
Gm7353	T	A	7: 3,160,725 (GRCm39)		noncoding transcript	Het
Gm9925	T	C	18: 74,198,344 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,541,792 (GRCm39)	S1180P	probably benign	Het
H2ac11	G	A	13: 22,227,079 (GRCm39)	Q7*	probably null	Het
Ift70a2	A	C	2: 75,807,920 (GRCm39)	C197W	probably benign	Het
Kiz	A	G	2: 146,731,166 (GRCm39)	T192A	possibly damaging	Het
Klhl24	T	A	16: 19,925,708 (GRCm39)	C79S	probably damaging	Het
Map3k11	A	G	19: 5,740,966 (GRCm39)	H231R	probably damaging	Het
Mbd4	C	A	6: 115,826,345 (GRCm39)	R194S	probably benign	Het
Mettl21e	A	C	1: 44,250,303 (GRCm39)	S34R	probably benign	Het
Mrps5	T	C	2: 127,440,161 (GRCm39)	V245A	probably benign	Het
Mtrf1	T	C	14: 79,639,128 (GRCm39)	Y87H	probably benign	Het
Myh15	T	C	16: 48,940,420 (GRCm39)	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248 (GRCm39)	I176L	probably benign	Het
Nfkb2	T	A	19: 46,298,361 (GRCm39)	L555Q	probably damaging	Het
Nhlrc3	T	A	3: 53,365,988 (GRCm39)	E168D	probably benign	Het
Nlrp5	T	A	7: 23,135,203 (GRCm39)	C949S	probably damaging	Het
Nup155	C	A	15: 8,187,187 (GRCm39)	A1372E	probably benign	Het
Nynrin	G	T	14: 56,100,720 (GRCm39)	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,409,402 (GRCm39)	N275Y	probably damaging	Het
Olr1	A	T	6: 129,465,839 (GRCm39)	S56T	probably damaging	Het
Or4k52	A	G	2: 111,611,190 (GRCm39)	D175G	probably damaging	Het
Or5aq1	C	T	2: 86,966,221 (GRCm39)	S148N	probably damaging	Het
Or5b121	A	G	19: 13,507,319 (GRCm39)	N138S	probably benign	Het
Or8b48	A	G	9: 38,493,265 (GRCm39)	T231A	possibly damaging	Het
Ovol2	A	T	2: 144,173,203 (GRCm39)		probably benign	Het
Pcdha6	A	T	18: 37,102,906 (GRCm39)	I700F	probably damaging	Het
Prkcz	C	T	4: 155,374,159 (GRCm39)	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,734,639 (GRCm39)	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,980,346 (GRCm39)		probably benign	Het
Rapgef2	A	G	3: 79,077,076 (GRCm39)		probably benign	Het
Rbl1	A	G	2: 157,016,724 (GRCm39)	V625A	probably benign	Het
Rbm38	G	T	2: 172,863,944 (GRCm39)	G38C	probably damaging	Het
Reg1	T	G	6: 78,403,333 (GRCm39)	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,694,697 (GRCm39)	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,105,983 (GRCm39)	V183I	probably benign	Het
Rims1	T	C	1: 22,361,329 (GRCm39)	Q1186R	probably damaging	Het
Ryr1	A	G	7: 28,794,522 (GRCm39)	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,094,811 (GRCm39)	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,336,537 (GRCm39)	I690F	probably damaging	Het
Sdk1	A	G	5: 141,944,993 (GRCm39)	D304G	probably damaging	Het
Skint6	T	C	4: 113,093,594 (GRCm39)	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,604,829 (GRCm39)	T200S	probably benign	Het
Slc34a2	C	T	5: 53,226,793 (GRCm39)	R639C	probably damaging	Het
Smap1	A	T	1: 23,892,517 (GRCm39)	M149K	probably benign	Het
Sorcs1	T	C	19: 50,132,419 (GRCm39)		probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Spata31e4	C	A	13: 50,855,116 (GRCm39)	S251R	probably damaging	Het
Strip1	G	A	3: 107,534,314 (GRCm39)	T136I	probably benign	Het
Tacr1	A	T	6: 82,534,053 (GRCm39)	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,728,600 (GRCm39)		probably benign	Het
Tcaf2	T	C	6: 42,604,996 (GRCm39)	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,669,269 (GRCm39)	T1454I	possibly damaging	Het
Ttn	A	T	2: 76,744,927 (GRCm39)	M5374K	probably benign	Het
Uts2r	G	A	11: 121,051,705 (GRCm39)	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,684,008 (GRCm39)	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,068,150 (GRCm39)	T778S	probably benign	Het
Xrn1	A	T	9: 95,856,797 (GRCm39)		probably benign	Het
Zfp35	A	T	18: 24,136,326 (GRCm39)	K223N	probably damaging	Het
Zfp764	T	C	7: 127,003,943 (GRCm39)	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,605,421 (GRCm39)	Y11C	probably damaging	Het

Other mutations in Ces2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Ces2a	APN	8	105,468,047 (GRCm39)	makesense	probably null
IGL02135:Ces2a	APN	8	105,466,813 (GRCm39)	missense	probably benign	0.00
IGL02529:Ces2a	APN	8	105,463,851 (GRCm39)	splice site	probably benign
IGL02625:Ces2a	APN	8	105,466,910 (GRCm39)	critical splice donor site	probably null
IGL02869:Ces2a	APN	8	105,465,691 (GRCm39)	missense	probably damaging	1.00
IGL03265:Ces2a	APN	8	105,464,075 (GRCm39)	missense	possibly damaging	0.55
IGL03349:Ces2a	APN	8	105,460,712 (GRCm39)	missense	probably damaging	0.99
R0010:Ces2a	UTSW	8	105,468,028 (GRCm39)	missense	probably benign	0.00
R0318:Ces2a	UTSW	8	105,467,456 (GRCm39)	missense	probably damaging	1.00
R0477:Ces2a	UTSW	8	105,464,169 (GRCm39)	missense	probably damaging	0.99
R0561:Ces2a	UTSW	8	105,464,165 (GRCm39)	missense	probably benign	0.35
R0619:Ces2a	UTSW	8	105,462,742 (GRCm39)	missense	probably benign	0.00
R1665:Ces2a	UTSW	8	105,464,187 (GRCm39)	splice site	probably benign
R1737:Ces2a	UTSW	8	105,467,456 (GRCm39)	missense	probably damaging	0.98
R2266:Ces2a	UTSW	8	105,466,822 (GRCm39)	missense	probably benign	0.02
R2267:Ces2a	UTSW	8	105,466,822 (GRCm39)	missense	probably benign	0.02
R2269:Ces2a	UTSW	8	105,466,822 (GRCm39)	missense	probably benign	0.02
R2288:Ces2a	UTSW	8	105,464,069 (GRCm39)	missense	probably damaging	1.00
R2656:Ces2a	UTSW	8	105,462,766 (GRCm39)	missense	probably benign	0.00
R3176:Ces2a	UTSW	8	105,466,010 (GRCm39)	splice site	probably benign
R3906:Ces2a	UTSW	8	105,465,940 (GRCm39)	missense	probably benign	0.00
R4344:Ces2a	UTSW	8	105,463,766 (GRCm39)	missense	probably damaging	1.00
R4708:Ces2a	UTSW	8	105,463,938 (GRCm39)	missense	probably benign	0.14
R5434:Ces2a	UTSW	8	105,464,041 (GRCm39)	missense	probably damaging	0.98
R5763:Ces2a	UTSW	8	105,462,756 (GRCm39)	missense	probably benign	0.00
R5828:Ces2a	UTSW	8	105,465,956 (GRCm39)	missense	probably benign	0.00
R6359:Ces2a	UTSW	8	105,462,710 (GRCm39)	missense	probably benign	0.00
R6440:Ces2a	UTSW	8	105,467,954 (GRCm39)	missense	probably benign	0.12
R7066:Ces2a	UTSW	8	105,466,880 (GRCm39)	missense	probably damaging	0.99
R7267:Ces2a	UTSW	8	105,465,672 (GRCm39)	missense	probably benign	0.20
R7395:Ces2a	UTSW	8	105,466,273 (GRCm39)	missense	probably benign	0.35
R7455:Ces2a	UTSW	8	105,464,154 (GRCm39)	missense	probably damaging	1.00
R7457:Ces2a	UTSW	8	105,464,021 (GRCm39)	missense	possibly damaging	0.87
R7567:Ces2a	UTSW	8	105,467,930 (GRCm39)	missense	probably benign	0.01
R7683:Ces2a	UTSW	8	105,463,744 (GRCm39)	missense	probably benign	0.00
R8328:Ces2a	UTSW	8	105,463,998 (GRCm39)	missense	probably damaging	1.00
R8336:Ces2a	UTSW	8	105,465,665 (GRCm39)	missense	probably damaging	0.97
R9183:Ces2a	UTSW	8	105,460,774 (GRCm39)	missense	possibly damaging	0.95
R9794:Ces2a	UTSW	8	105,467,896 (GRCm39)	missense	probably benign	0.16
X0022:Ces2a	UTSW	8	105,462,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Ces2a	UTSW	8	105,461,482 (GRCm39)	missense	probably damaging	1.00
Z1176:Ces2a	UTSW	8	105,460,638 (GRCm39)	unclassified	probably benign

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