Mutagenetix > Incidental Mutation

Incidental Mutation 'R3036:Ces2b'

263369

Institutional Source

Beutler Lab

Gene Symbol

Ces2b

Ensembl Gene

ENSMUSG00000050097

Gene Name

carboxyesterase 2B

Synonyms

MMRRC Submission

040552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3036 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105558204-105566725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105561258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 143 (I143V)

Ref Sequence

ENSEMBL: ENSMUSP00000063005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059449] [ENSMUST00000163042]

AlphaFold

Q6PDB7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059449
AA Change: I143V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: I143V

Domain	Start	End	E-Value	Type
Pfam:COesterase	10	535	8.5e-175	PFAM
Pfam:Abhydrolase_3	140	305	1.8e-11	PFAM
Pfam:Peptidase_S9	161	296	9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163042

SMART Domains

Protein: ENSMUSP00000124796
Gene: ENSMUSG00000050097

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg10	A	G	13: 91,189,017 (GRCm39)	S98P	probably damaging	Het
Caskin2	A	G	11: 115,697,182 (GRCm39)	Y189H	probably damaging	Het
Gpr108	A	G	17: 57,552,323 (GRCm39)	V90A	probably benign	Het
Kcnk18	T	A	19: 59,223,494 (GRCm39)	V213D	probably benign	Het
Ly6f	T	C	15: 75,140,636 (GRCm39)	C20R	probably damaging	Het
Mbl1	C	A	14: 40,880,790 (GRCm39)	S226Y	probably damaging	Het
Mdn1	T	C	4: 32,750,013 (GRCm39)	C4399R	probably damaging	Het
Myadm	A	G	7: 3,346,059 (GRCm39)	T274A	probably benign	Het
Nol11	A	G	11: 107,064,070 (GRCm39)	S561P	possibly damaging	Het
Pbld2	T	C	10: 62,907,225 (GRCm39)	S155P	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Sumf1	G	A	6: 108,130,152 (GRCm39)	A214V	possibly damaging	Het
Teddm1a	A	G	1: 153,767,656 (GRCm39)	Y40C	probably benign	Het
Tgm2	C	T	2: 157,966,167 (GRCm39)	G496S	probably benign	Het
Trpm5	G	A	7: 142,639,200 (GRCm39)	T239I	probably benign	Het
Ttn	C	A	2: 76,730,960 (GRCm39)		probably benign	Het
Uty	G	A	Y: 1,099,671 (GRCm39)	R1112*	probably null	Het

Other mutations in Ces2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Ces2b	APN	8	105,561,236 (GRCm39)	splice site	probably benign
IGL01905:Ces2b	APN	8	105,560,594 (GRCm39)	missense	probably damaging	1.00
IGL02528:Ces2b	APN	8	105,561,601 (GRCm39)	missense	probably damaging	1.00
IGL02659:Ces2b	APN	8	105,559,202 (GRCm39)	splice site	probably benign
IGL02885:Ces2b	APN	8	105,561,563 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Ces2b	UTSW	8	105,563,442 (GRCm39)	missense	probably damaging	1.00
R0092:Ces2b	UTSW	8	105,563,144 (GRCm39)	missense	possibly damaging	0.48
R0403:Ces2b	UTSW	8	105,560,577 (GRCm39)	missense	probably damaging	0.98
R0600:Ces2b	UTSW	8	105,562,542 (GRCm39)	missense	probably benign	0.06
R0637:Ces2b	UTSW	8	105,561,237 (GRCm39)	splice site	probably benign
R1574:Ces2b	UTSW	8	105,562,521 (GRCm39)	missense	probably benign	0.16
R1574:Ces2b	UTSW	8	105,562,521 (GRCm39)	missense	probably benign	0.16
R3086:Ces2b	UTSW	8	105,559,401 (GRCm39)	missense	possibly damaging	0.92
R4761:Ces2b	UTSW	8	105,563,193 (GRCm39)	critical splice donor site	probably null
R4920:Ces2b	UTSW	8	105,563,538 (GRCm39)	missense	probably benign
R4937:Ces2b	UTSW	8	105,559,413 (GRCm39)	missense	probably benign	0.29
R5211:Ces2b	UTSW	8	105,561,695 (GRCm39)	missense	possibly damaging	0.89
R5550:Ces2b	UTSW	8	105,565,069 (GRCm39)	missense	probably benign	0.00
R5790:Ces2b	UTSW	8	105,560,568 (GRCm39)	missense	probably damaging	1.00
R6403:Ces2b	UTSW	8	105,562,901 (GRCm39)	nonsense	probably null
R6692:Ces2b	UTSW	8	105,563,919 (GRCm39)	missense	probably damaging	1.00
R6720:Ces2b	UTSW	8	105,563,501 (GRCm39)	missense	probably benign	0.32
R6899:Ces2b	UTSW	8	105,563,398 (GRCm39)	splice site	probably null
R7148:Ces2b	UTSW	8	105,564,928 (GRCm39)	missense	probably damaging	1.00
R7270:Ces2b	UTSW	8	105,564,472 (GRCm39)	missense	possibly damaging	0.50
R7571:Ces2b	UTSW	8	105,561,641 (GRCm39)	missense	probably damaging	1.00
R7626:Ces2b	UTSW	8	105,564,017 (GRCm39)	missense	possibly damaging	0.82
R7841:Ces2b	UTSW	8	105,561,692 (GRCm39)	missense	probably benign	0.19
R7892:Ces2b	UTSW	8	105,559,385 (GRCm39)	missense	probably damaging	1.00
R8029:Ces2b	UTSW	8	105,561,482 (GRCm39)	missense	probably damaging	1.00
R8293:Ces2b	UTSW	8	105,559,258 (GRCm39)	missense	unknown
R8296:Ces2b	UTSW	8	105,563,112 (GRCm39)	missense	possibly damaging	0.77
R8721:Ces2b	UTSW	8	105,560,527 (GRCm39)	missense	possibly damaging	0.88
R9100:Ces2b	UTSW	8	105,558,221 (GRCm39)	unclassified	probably benign
R9361:Ces2b	UTSW	8	105,564,039 (GRCm39)	critical splice donor site	probably null
R9461:Ces2b	UTSW	8	105,564,011 (GRCm39)	missense	probably benign	0.39
R9477:Ces2b	UTSW	8	105,560,556 (GRCm39)	missense	probably damaging	1.00
X0027:Ces2b	UTSW	8	105,560,560 (GRCm39)	missense	probably damaging	1.00
Z1177:Ces2b	UTSW	8	105,559,227 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TACTAGATGTCCCTGGTAGTGG -3'
(R):5'- TGATCCAGGAATCCCCAGTTG -3'

Sequencing Primer
(F):5'- ATGTCCCTGGTAGTGGCCAAAG -3'
(R):5'- CTGGTCTCCAGTGCTGAGAAG -3'

Posted On

2015-02-05