Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Ces2b'

691627

Institutional Source

Beutler Lab

Gene Symbol

Ces2b

Ensembl Gene

ENSMUSG00000050097

Gene Name

carboxyesterase 2B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9100 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

104831572-104840093 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 104831589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124796 (fasta)

Gene Model

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

AlphaFold

Q6PDB7

Predicted Effect

probably benign
Transcript: ENSMUST00000059449

SMART Domains

Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,067	T151A	probably benign	Het
4932438A13Rik	A	G	3: 37,044,758	K1256R		Het
Abcc4	A	G	14: 118,616,388	V444A	possibly damaging	Het
Add1	T	A	5: 34,613,278		probably benign	Het
Adgrg3	A	G	8: 95,036,263		probably benign	Het
Adgrl3	A	C	5: 81,694,452	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,186,807	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,088,824	N11S		Het
B3gnt6	T	A	7: 98,194,751	M1L	not run	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cdca8	T	C	4: 124,936,445	T45A	probably benign	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cnot3	A	G	7: 3,658,193	D567G	probably benign	Het
Cnot6l	T	C	5: 96,083,016	D364G	probably damaging	Het
Cpped1	A	G	16: 11,828,555	V111A		Het
Cyp11b2	T	C	15: 74,851,146	K468E	probably damaging	Het
Dpp4	T	G	2: 62,374,389	T245P	possibly damaging	Het
Fat2	A	G	11: 55,262,521	W3622R	probably damaging	Het
Fat4	A	C	3: 39,010,654	K4920Q		Het
Frmpd2	A	G	14: 33,530,450	I656M	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gde1	C	T	7: 118,695,082	R166H	probably benign	Het
Gdf7	A	T	12: 8,298,652	F215Y	unknown	Het
Gdpgp1	A	G	7: 80,238,534	I104M	probably benign	Het
Gldc	A	G	19: 30,099,914	S953P	possibly damaging	Het
Gm13089	T	G	4: 143,699,157	N72T	probably benign	Het
Gm5483	T	A	16: 36,187,915	M57K	possibly damaging	Het
Golga3	C	T	5: 110,189,678	H411Y	probably benign	Het
Gpn1	G	T	5: 31,498,396	R101I	probably damaging	Het
Itgb5	T	A	16: 33,920,181	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,346,928	L289F	probably damaging	Het
Klhl13	C	T	X: 23,247,494	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,849,951	T3164R	unknown	Het
Knl1	T	C	2: 119,068,988	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 142,175,099		probably benign	Het
Lamtor4	G	A	5: 138,256,333		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,248,765		probably benign	Het
Ltbp1	C	T	17: 75,315,107	L829F	probably benign	Het
Ltbp1	T	A	17: 75,315,108	L829H	probably damaging	Het
Mrgpra1	C	T	7: 47,334,984	E316K	probably damaging	Het
Muc16	T	A	9: 18,645,670	H3109L	unknown	Het
Nck1	T	C	9: 100,495,508	E368G	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nus1	A	T	10: 52,429,191		probably null	Het
Nxph2	T	C	2: 23,399,768	V44A	probably benign	Het
Olfr1029	A	G	2: 85,975,752	K170E	probably benign	Het
Olfr1161	T	C	2: 88,024,986	I88T	probably benign	Het
Olfr1277	A	G	2: 111,269,749	L206P	probably benign	Het
Olfr1305	A	G	2: 111,873,261	M198T	possibly damaging	Het
Olfr1427	G	T	19: 12,098,890	H250N	probably benign	Het
Olfr213	A	T	6: 116,541,029	N192I	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Otof	T	C	5: 30,382,352	D1039G	possibly damaging	Het
Parpbp	T	A	10: 88,133,107	Q159L	possibly damaging	Het
Per2	A	T	1: 91,423,742	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,324,485		silent	Het
Pik3ca	A	G	3: 32,460,019	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,309,222	V299A	probably benign	Het
Polr3h	A	T	15: 81,922,516		probably benign	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
Pus3	C	A	9: 35,565,650	Q248K	probably benign	Het
Sectm1a	T	A	11: 121,069,743	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,232,194	Y448C	probably damaging	Het
Slc12a4	A	T	8: 105,949,142	S584T	probably benign	Het
Slc25a40	T	C	5: 8,449,613	F249L	probably benign	Het
St3gal6	T	A	16: 58,486,430	N79I		Het
Stxbp4	A	T	11: 90,535,494	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,807,894	Y202C	probably damaging	Het
Swt1	A	G	1: 151,423,505		probably null	Het
Tdrd6	T	C	17: 43,625,414	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,845,854	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,840,281	E437G	probably benign	Het
Txnrd2	A	T	16: 18,437,565	H101L	probably damaging	Het
Uba3	A	T	6: 97,186,710	V306E	probably damaging	Het
Unc5b	T	C	10: 60,768,373	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,370,321	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,137	R222S	probably damaging	Het
Zfp507	G	A	7: 35,795,021	T199I	probably benign	Het
Zfyve19	T	G	2: 119,211,237	L95R	probably benign	Het

Other mutations in Ces2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Ces2b	APN	8	104834604	splice site	probably benign
IGL01905:Ces2b	APN	8	104833962	missense	probably damaging	1.00
IGL02528:Ces2b	APN	8	104834969	missense	probably damaging	1.00
IGL02659:Ces2b	APN	8	104832570	splice site	probably benign
IGL02885:Ces2b	APN	8	104834931	missense	probably damaging	1.00
PIT4142001:Ces2b	UTSW	8	104836810	missense	probably damaging	1.00
R0092:Ces2b	UTSW	8	104836512	missense	possibly damaging	0.48
R0403:Ces2b	UTSW	8	104833945	missense	probably damaging	0.98
R0600:Ces2b	UTSW	8	104835910	missense	probably benign	0.06
R0637:Ces2b	UTSW	8	104834605	splice site	probably benign
R1574:Ces2b	UTSW	8	104835889	missense	probably benign	0.16
R1574:Ces2b	UTSW	8	104835889	missense	probably benign	0.16
R3036:Ces2b	UTSW	8	104834626	missense	possibly damaging	0.87
R3086:Ces2b	UTSW	8	104832769	missense	possibly damaging	0.92
R4761:Ces2b	UTSW	8	104836561	critical splice donor site	probably null
R4920:Ces2b	UTSW	8	104836906	missense	probably benign
R4937:Ces2b	UTSW	8	104832781	missense	probably benign	0.29
R5211:Ces2b	UTSW	8	104835063	missense	possibly damaging	0.89
R5550:Ces2b	UTSW	8	104838437	missense	probably benign	0.00
R5790:Ces2b	UTSW	8	104833936	missense	probably damaging	1.00
R6403:Ces2b	UTSW	8	104836269	nonsense	probably null
R6692:Ces2b	UTSW	8	104837287	missense	probably damaging	1.00
R6720:Ces2b	UTSW	8	104836869	missense	probably benign	0.32
R6899:Ces2b	UTSW	8	104836766	splice site	probably null
R7148:Ces2b	UTSW	8	104838296	missense	probably damaging	1.00
R7270:Ces2b	UTSW	8	104837840	missense	possibly damaging	0.50
R7571:Ces2b	UTSW	8	104835009	missense	probably damaging	1.00
R7626:Ces2b	UTSW	8	104837385	missense	possibly damaging	0.82
R7841:Ces2b	UTSW	8	104835060	missense	probably benign	0.19
R7892:Ces2b	UTSW	8	104832753	missense	probably damaging	1.00
R8029:Ces2b	UTSW	8	104834850	missense	probably damaging	1.00
R8293:Ces2b	UTSW	8	104832626	missense	unknown
R8296:Ces2b	UTSW	8	104836480	missense	possibly damaging	0.77
R8721:Ces2b	UTSW	8	104833895	missense	possibly damaging	0.88
R9361:Ces2b	UTSW	8	104837407	critical splice donor site	probably null
R9461:Ces2b	UTSW	8	104837379	missense	probably benign	0.39
R9477:Ces2b	UTSW	8	104833924	missense	probably damaging	1.00
X0027:Ces2b	UTSW	8	104833928	missense	probably damaging	1.00
Z1177:Ces2b	UTSW	8	104832595	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGCCAAACACTGGGATAG -3'
(R):5'- TGCCCCATGCCTGTTTAGTG -3'

Sequencing Primer
(F):5'- AACACTGGGATAGAGTTCCTGGTATC -3'
(R):5'- ATGCCTGTTTAGTGAGCCTC -3'

Posted On

2021-12-30