Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Ces2b'

617830

Institutional Source

Beutler Lab

Gene Symbol

Ces2b

Ensembl Gene

ENSMUSG00000050097

Gene Name

carboxyesterase 2B

Synonyms

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

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

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105558204-105566725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105561482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 192 (N192S)

Ref Sequence

ENSEMBL: ENSMUSP00000063005 (fasta)

Gene Model

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

AlphaFold

Q6PDB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000059449
AA Change: N192S

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

SMART Domains

Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: N192S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably damaging	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
R3036:Ces2b	UTSW	8	105,561,258 (GRCm39)	missense	possibly damaging	0.87
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
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'- ATGGATTCACGGAGGTGGAC -3'
(R):5'- ATGATGGCTCCATGGAAGAGTC -3'

Sequencing Primer
(F):5'- ACGATGGATCTCTATTGGCAGCC -3'
(R):5'- GCTCCATGGAAGAGTCCTTTG -3'

Posted On

2020-01-23