Mutagenetix > Incidental Mutation

Incidental Mutation 'R3906:Ces2a'

309187

Institutional Source

Beutler Lab

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

Ces6, 9130231C15Rik

MMRRC Submission

040813-MU

Accession Numbers

Essential gene?

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

Stock #

R3906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104734003-104741634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104739308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 325 (I325V)

Ref Sequence

ENSEMBL: ENSMUSP00000127346 (fasta)

Gene Model

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

AlphaFold

Q8QZR3

Predicted Effect

probably benign
Transcript: ENSMUST00000034346
AA Change: I358V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: I358V

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 benign
Transcript: ENSMUST00000164182
AA Change: I325V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: I325V

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,067,151	V1352A	possibly damaging	Het
Abcb7	G	T	X: 104,284,159	Q715K	probably benign	Het
Adamts3	C	A	5: 89,861,355	G150C	probably damaging	Het
Ank2	A	G	3: 127,016,898	L513P	probably damaging	Het
Cacng1	C	A	11: 107,716,292	V34L	probably benign	Het
Cd1d1	A	G	3: 86,998,756	W71R	probably damaging	Het
Cdhr3	A	G	12: 33,053,428	F397L	probably damaging	Het
Ctsq	C	T	13: 61,038,771	V140M	probably damaging	Het
Cyp4f18	A	G	8: 72,001,082		probably benign	Het
Ddi2	T	C	4: 141,684,281	D440G	probably benign	Het
Dsg3	G	A	18: 20,538,499	G754R	probably damaging	Het
Endod1	T	A	9: 14,380,855	Y39F	probably benign	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Fn1	C	T	1: 71,607,913	G1482R	probably damaging	Het
Fpr2	A	G	17: 17,893,549	K269R	probably benign	Het
Frk	T	G	10: 34,584,056	L216V	probably benign	Het
Gan	G	A	8: 117,194,134	V370M	probably damaging	Het
Grik1	A	G	16: 88,006,449	I285T	probably benign	Het
Hspa1a	C	T	17: 34,971,727	V67M	probably damaging	Het
Kbtbd8	T	A	6: 95,126,584	Y405N	probably damaging	Het
Kcnj4	G	T	15: 79,485,745	H11Q	probably benign	Het
Kif26a	T	A	12: 112,176,890	S1193T	probably benign	Het
Kmt2e	A	G	5: 23,501,626	N1396D	probably benign	Het
Lasp1	G	A	11: 97,799,827	V12M	probably damaging	Het
Lrrk1	G	T	7: 66,294,903	T653K	possibly damaging	Het
Meiob	A	G	17: 24,827,948	Y182C	probably benign	Het
Myh6	T	C	14: 54,956,955	D739G	probably benign	Het
Ninl	T	C	2: 150,980,119	D21G	probably damaging	Het
Olfr1504	C	T	19: 13,887,706	C168Y	probably damaging	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pacsin2	A	C	15: 83,379,055	V125G	probably damaging	Het
Pfas	G	A	11: 68,988,286		probably benign	Het
Pla2g4f	C	T	2: 120,300,499	R825Q	probably benign	Het
Prkd1	A	T	12: 50,388,426	V506E	possibly damaging	Het
Psmd2	A	G	16: 20,655,642	D316G	probably benign	Het
Ryr2	T	A	13: 11,738,209	D1742V	possibly damaging	Het
Szt2	G	A	4: 118,378,269		probably benign	Het
Ugt8a	T	C	3: 125,914,982	T160A	possibly damaging	Het
Xrcc6	A	G	15: 82,029,571	T378A	probably benign	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
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'- TCAGGAGCTGCTGACCTCTATG -3'
(R):5'- TTGCAGTGATCCCATTCAGG -3'

Sequencing Primer
(F):5'- CAGCATCATTGGTGTCAACAC -3'
(R):5'- TGCAGTGATCCCATTCAGGTACAC -3'

Posted On

2015-04-17