Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Ces2a'

644208

Institutional Source

Beutler Lab

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

Ces6, 9130231C15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104734003-104741634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104737366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 210 (N210I)

Ref Sequence

ENSEMBL: ENSMUSP00000034346 (fasta)

Gene Model

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

AlphaFold

Q8QZR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034346
AA Change: N210I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: N210I

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: N210I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: N210I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Cuzd1	A	T	7: 131,311,616	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dennd5b	A	G	6: 149,020,617	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Gm13084	A	G	4: 143,810,810	L317P	probably damaging	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,764,496	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr311	T	A	11: 58,841,634	D173E	probably benign	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp579	T	G	7: 4,994,867	H15P	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly 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
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
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'- CTGGCAGCCACTGAGGAAATAG -3'
(R):5'- ACCACCTCAGAAGTGTCAGAG -3'

Sequencing Primer
(F):5'- CCACTGAGGAAATAGTAATTGTCGCC -3'
(R):5'- CCTCAGAAGTGTCAGAGATGAGGTC -3'

Posted On

2020-09-02