Mutagenetix > Incidental Mutation

Incidental Mutation 'R7626:Ces2b'

589452

Institutional Source

Beutler Lab

Gene Symbol

Ces2b

Ensembl Gene

ENSMUSG00000050097

Gene Name

carboxyesterase 2B

Synonyms

MMRRC Submission

045690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105558204-105566725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105564017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 464 (Y464H)

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: Y464H

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: Y464H

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Alox5	T	C	6: 116,390,756 (GRCm39)	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,367,339 (GRCm39)	K355N	possibly damaging	Het
Camkk2	T	A	5: 122,902,363 (GRCm39)		probably benign	Het
Ccdc171	C	T	4: 83,499,012 (GRCm39)	Q237*	probably null	Het
Cntfr	A	G	4: 41,662,013 (GRCm39)	F243S	possibly damaging	Het
Crip3	A	T	17: 46,740,791 (GRCm39)	R65S	probably benign	Het
Dcn	A	G	10: 97,319,340 (GRCm39)	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,658,332 (GRCm39)	S216G	possibly damaging	Het
Dmxl1	A	G	18: 50,035,861 (GRCm39)	I2295V	probably benign	Het
Dnah2	A	G	11: 69,389,511 (GRCm39)	S794P	probably damaging	Het
Eri1	A	C	8: 35,941,554 (GRCm39)	Y264*	probably null	Het
Etl4	T	C	2: 20,718,189 (GRCm39)	L179P	probably damaging	Het
F5	T	G	1: 164,014,481 (GRCm39)	M584R	possibly damaging	Het
Fam98c	G	T	7: 28,852,248 (GRCm39)	R104S	probably damaging	Het
Flad1	A	T	3: 89,310,718 (GRCm39)	I443N	probably benign	Het
Hbp1	T	C	12: 31,993,899 (GRCm39)	E43G	probably benign	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kcnj3	T	A	2: 55,484,833 (GRCm39)	C310*	probably null	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,518,882 (GRCm39)	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,663,679 (GRCm39)	R285L	probably damaging	Het
Ltb4r2	T	A	14: 56,000,338 (GRCm39)	S320T	probably damaging	Het
Mmd	G	T	11: 90,148,378 (GRCm39)	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,608,661 (GRCm39)	S2146P	probably benign	Het
Nop14	A	G	5: 34,809,135 (GRCm39)	F319L	probably damaging	Het
Numa1	C	A	7: 101,648,630 (GRCm39)	T787K	probably benign	Het
Or10q12	T	G	19: 13,745,709 (GRCm39)	M1R	probably null	Het
Or2t46	A	C	11: 58,471,999 (GRCm39)	T110P	probably damaging	Het
Or6c208	T	G	10: 129,223,726 (GRCm39)	C75G	possibly damaging	Het
Patj	T	C	4: 98,435,224 (GRCm39)	V2A	probably benign	Het
Pisd	T	C	5: 32,898,032 (GRCm39)	H52R	probably benign	Het
Plekhg6	A	T	6: 125,340,631 (GRCm39)	D576E	probably benign	Het
Plekhn1	T	A	4: 156,310,110 (GRCm39)	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,295,778 (GRCm39)	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,789,476 (GRCm39)	T513M	possibly damaging	Het
Pramel32	A	T	4: 88,548,279 (GRCm39)	I42N	probably damaging	Het
Rhobtb2	C	A	14: 70,034,386 (GRCm39)	A280S	probably damaging	Het
Rnf40	A	G	7: 127,189,047 (GRCm39)	D140G	probably benign	Het
Rxfp1	A	G	3: 79,555,397 (GRCm39)	L653P	probably damaging	Het
Satb1	A	T	17: 52,074,995 (GRCm39)	D500E	probably benign	Het
Slc15a1	A	T	14: 121,713,377 (GRCm39)	D383E	probably benign	Het
Smarcad1	C	A	6: 65,073,033 (GRCm39)	S604R	possibly damaging	Het
St7	A	G	6: 17,934,216 (GRCm39)	T533A	probably damaging	Het
Sv2c	T	A	13: 96,122,451 (GRCm39)	T442S	probably benign	Het
Tbx2	A	G	11: 85,731,622 (GRCm39)	T640A	probably benign	Het
Tenm4	T	A	7: 96,542,221 (GRCm39)	N1948K	probably damaging	Het
Tll1	T	C	8: 64,551,268 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,805,718 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,518,136 (GRCm39)	L582Q	probably null	Het
Unc13c	T	A	9: 73,641,799 (GRCm39)	K1231N	probably damaging	Het
Vmn2r101	T	A	17: 19,832,192 (GRCm39)	Y729*	probably null	Het
Zcchc2	A	G	1: 105,928,742 (GRCm39)	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,173,917 (GRCm39)	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,768,437 (GRCm39)	C597*	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
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
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'- CCTGGAGGCTAACTCTCCATTTAAC -3'
(R):5'- TCCAAGCTGGGCATGGTTTG -3'

Sequencing Primer
(F):5'- CTCCATTTAACTTCTATGATTCAGGG -3'
(R):5'- TGGTTTGGGGAAAATAATATGGTAC -3'

Posted On

2019-10-24