Mutagenetix > Incidental Mutation

Incidental Mutation 'R0477:Ces2a'

41851

Institutional Source

Beutler Lab

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

Ces6, 9130231C15Rik

MMRRC Submission

038677-MU

Accession Numbers

Essential gene?

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

Stock #

R0477 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

104734003-104741634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104737537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 267 (E267G)

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: E267G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: E267G

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: E267G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: E267G

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	T	11: 117,802,961	I85F	probably benign	Het
Abca8a	T	A	11: 110,065,225	I778L	probably benign	Het
Abcc5	T	C	16: 20,368,569	N889S	possibly damaging	Het
Abcc5	T	C	16: 20,398,885	N359D	probably damaging	Het
Adam23	A	G	1: 63,557,400		probably benign	Het
Adamts3	A	T	5: 89,684,507	D913E	probably benign	Het
Ap1b1	G	T	11: 5,031,787	C538F	probably benign	Het
Ash1l	T	A	3: 88,983,459	S882T	probably benign	Het
C9	A	T	15: 6,458,183	E43D	probably benign	Het
Cacna2d1	T	C	5: 16,194,798		probably null	Het
Cfap61	A	G	2: 145,939,916	D23G	probably damaging	Het
Col9a3	T	G	2: 180,609,470		probably benign	Het
Cstl1	T	C	2: 148,750,988	V21A	probably benign	Het
Cth	A	T	3: 157,905,175	L340Q	probably damaging	Het
Dnah8	T	A	17: 30,755,080	M2813K	probably damaging	Het
Fam107a	A	T	14: 8,301,168	Y21N	probably benign	Het
Fam184a	G	A	10: 53,655,079	T733M	probably damaging	Het
Fer1l4	A	G	2: 156,052,886	V21A	probably benign	Het
Foxc2	A	T	8: 121,118,035	Y474F	probably damaging	Het
Hnf4g	G	T	3: 3,651,791		probably benign	Het
Hnrnpll	T	C	17: 80,061,832	D54G	unknown	Het
Hydin	A	G	8: 110,418,498	Y827C	probably damaging	Het
Il23r	A	G	6: 67,452,377	V327A	probably benign	Het
Itih4	T	A	14: 30,889,674	V118D	probably damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lamb1	A	G	12: 31,326,269	D1546G	possibly damaging	Het
Large1	A	T	8: 72,818,082	D689E	probably damaging	Het
Map1a	T	C	2: 121,302,101	S895P	probably damaging	Het
Mdn1	A	C	4: 32,750,928	E4487A	probably benign	Het
Myo15	T	C	11: 60,520,914		probably null	Het
Nlrp4f	C	A	13: 65,190,906	R639L	probably benign	Het
Olfr1100	T	A	2: 86,978,223	D191V	probably damaging	Het
Olfr1275	A	G	2: 111,231,664	F43S	probably benign	Het
Pcdh9	T	C	14: 93,887,678	N229S	probably damaging	Het
Pcnx2	A	G	8: 125,761,567	V1746A	probably damaging	Het
Phf12	A	T	11: 78,023,070	H446L	possibly damaging	Het
Phlpp2	A	G	8: 109,895,506		probably null	Het
Psmb9	A	C	17: 34,182,264	V207G	probably damaging	Het
Ptprh	C	A	7: 4,597,998	D127Y	possibly damaging	Het
Rabep1	T	G	11: 70,920,907	M535R	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scin	T	C	12: 40,060,516	D711G	probably damaging	Het
Slfn4	T	C	11: 83,188,681	I6T	probably benign	Het
Sos1	T	A	17: 80,434,934	E388V	possibly damaging	Het
Spag5	A	C	11: 78,314,198	Q603P	probably damaging	Het
Supv3l1	G	T	10: 62,430,585	T604N	probably damaging	Het
Tbx5	A	G	5: 119,883,119	S397G	possibly damaging	Het
Tmprss5	A	G	9: 49,115,165	D383G	possibly damaging	Het
Trim43b	A	G	9: 89,090,601	W167R	probably damaging	Het
Unc80	A	T	1: 66,570,001	D1283V	probably damaging	Het
Upf1	A	T	8: 70,334,080	V918D	probably benign	Het
Vmn2r100	A	G	17: 19,522,514	I383M	probably benign	Het
Zc3h3	G	T	15: 75,777,083	S733R	possibly damaging	Het
Zcchc2	C	T	1: 106,030,270	P426S	possibly damaging	Het
Zkscan7	A	G	9: 122,890,809		probably null	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
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
R4780:Ces2a	UTSW	8	104737208	missense	probably damaging	1.00
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'- TGTCGCCATCCAGTATCGCTTG -3'
(R):5'- TGGGATTTTGCTAAGGACAGAAGCC -3'

Sequencing Primer
(F):5'- CTTCTTCAGGTAAGCCTGGGAC -3'
(R):5'- CCACTGGAGAGAGGTTTGC -3'

Posted On

2013-05-23