Mutagenetix > Incidental Mutation

Incidental Mutation 'R5529:Ces2e'

433584

Institutional Source

Beutler Lab

Gene Symbol

Ces2e

Ensembl Gene

ENSMUSG00000031886

Gene Name

carboxylesterase 2E

Synonyms

9030624L02Rik, Ces5

MMRRC Submission

043087-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104926260-104934672 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104929911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 258 (V258L)

Ref Sequence

ENSEMBL: ENSMUSP00000105037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034355] [ENSMUST00000109410]

AlphaFold

Q8BK48

Predicted Effect

probably benign
Transcript: ENSMUST00000034355
AA Change: V258L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: V258L

Domain	Start	End	E-Value	Type
Pfam:COesterase	11	538	1.2e-174	PFAM
Pfam:Abhydrolase_3	143	252	4.6e-11	PFAM
Pfam:Peptidase_S9	159	296	2.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109410
AA Change: V258L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: V258L

Domain	Start	End	E-Value	Type
Pfam:COesterase	9	538	1.7e-171	PFAM
Pfam:Abhydrolase_3	143	246	6.6e-11	PFAM
Pfam:Peptidase_S9	158	276	2.1e-7	PFAM

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 95.7%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,264,881	Y2079C	probably damaging	Het
Alg2	T	C	4: 47,472,101	R236G	probably damaging	Het
Alpl	T	A	4: 137,746,422	N323I	probably damaging	Het
Anxa3	A	G	5: 96,828,379	E172G	probably benign	Het
Atp8a2	A	G	14: 59,793,865		probably null	Het
Cadps	T	C	14: 12,454,285	K1078E	probably damaging	Het
Daam2	A	G	17: 49,459,057	F1041S	probably benign	Het
Dcstamp	A	G	15: 39,754,536	I114V	probably benign	Het
Ddhd2	C	T	8: 25,739,560	R496Q	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eml6	T	A	11: 29,764,126	R1335S	probably benign	Het
F12	T	C	13: 55,422,059	N102S	probably benign	Het
Fbn1	G	A	2: 125,373,950	L712F	probably benign	Het
Fgf1	G	T	18: 38,858,604	F37L	probably damaging	Het
Fgf14	T	A	14: 123,980,455	H212L	probably damaging	Het
Gm10036	A	T	18: 15,832,801	Q3L	probably benign	Het
Hivep1	T	C	13: 42,156,650	F789L	possibly damaging	Het
Hspg2	C	A	4: 137,551,828	T3074N	probably damaging	Het
Katnb1	C	T	8: 95,097,672	R495C	probably damaging	Het
Kdm5b	C	T	1: 134,588,003	H122Y	probably damaging	Het
Ky	C	T	9: 102,542,075	S427L	probably benign	Het
Med9	T	G	11: 59,960,660	V105G	probably benign	Het
Ndufa11	T	A	17: 56,721,059	V43D	probably damaging	Het
Nlrp4b	T	A	7: 10,714,946	C359S	possibly damaging	Het
Olfr361	T	A	2: 37,084,909	I280F	possibly damaging	Het
Olfr558	A	T	7: 102,709,693	K145*	probably null	Het
Paxbp1	T	A	16: 91,030,513	Y478F	possibly damaging	Het
Pole	G	A	5: 110,332,466	E92K	probably benign	Het
Prom1	G	T	5: 44,026,768	L449M	probably damaging	Het
Psg28	G	A	7: 18,430,448	T113I	probably benign	Het
Reln	A	C	5: 21,932,715	V2493G	possibly damaging	Het
Rp1	C	T	1: 4,345,832	V1686I	probably benign	Het
Setbp1	T	C	18: 79,086,652	I122V	probably damaging	Het
Setd5	T	C	6: 113,121,568	Y721H	probably damaging	Het
Shroom1	T	C	11: 53,463,922	F223S	probably damaging	Het
Son	T	A	16: 91,655,466	L367Q	probably damaging	Het
Spred2	G	T	11: 20,021,301	D363Y	probably damaging	Het
Tbc1d8	T	G	1: 39,372,755	Y1000S	probably benign	Het
Tdp2	A	T	13: 24,838,236	K213*	probably null	Het
Tmem89	T	C	9: 108,915,477	I146T	probably damaging	Het
Vhl	T	C	6: 113,629,463	V147A	probably benign	Het
Vmn2r23	C	T	6: 123,713,451	L429F	probably benign	Het
Vrk2	T	C	11: 26,499,036	D186G	probably damaging	Het
Wisp2	T	C	2: 163,825,359		probably null	Het
Zbtb40	A	G	4: 136,983,163	F1222L	possibly damaging	Het
Zfp266	A	G	9: 20,506,734	S7P	probably damaging	Het
Zfp472	T	A	17: 32,978,433	I494K	possibly damaging	Het
Zfp655	A	G	5: 145,244,736	E468G	probably damaging	Het

Other mutations in Ces2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Ces2e	APN	8	104929565	missense	probably benign	0.42
IGL02045:Ces2e	APN	8	104930658	splice site	probably benign
IGL02656:Ces2e	APN	8	104927056	missense	possibly damaging	0.94
IGL02904:Ces2e	APN	8	104931338	missense	probably benign
IGL02972:Ces2e	APN	8	104927061	missense	probably damaging	1.00
IGL03244:Ces2e	APN	8	104928819	missense	probably benign	0.38
R0585:Ces2e	UTSW	8	104929821	missense	probably damaging	1.00
R0762:Ces2e	UTSW	8	104929864	missense	probably damaging	0.98
R1004:Ces2e	UTSW	8	104929738	missense	probably damaging	1.00
R1168:Ces2e	UTSW	8	104927014	missense	possibly damaging	0.49
R1731:Ces2e	UTSW	8	104929576	missense	probably damaging	1.00
R2134:Ces2e	UTSW	8	104932539	critical splice donor site	probably null
R3087:Ces2e	UTSW	8	104930715	missense	probably benign	0.18
R3693:Ces2e	UTSW	8	104928811	missense	probably damaging	1.00
R4622:Ces2e	UTSW	8	104928709	splice site	probably null
R4873:Ces2e	UTSW	8	104927185	missense	probably damaging	1.00
R4875:Ces2e	UTSW	8	104927185	missense	probably damaging	1.00
R4965:Ces2e	UTSW	8	104933698	missense	probably benign	0.09
R5365:Ces2e	UTSW	8	104927214	critical splice donor site	probably null
R5601:Ces2e	UTSW	8	104929494	missense	probably benign	0.42
R5968:Ces2e	UTSW	8	104932995	missense	probably damaging	1.00
R6128:Ces2e	UTSW	8	104928796	missense	probably benign	0.03
R7337:Ces2e	UTSW	8	104931056	splice site	probably null
R7363:Ces2e	UTSW	8	104933000	splice site	probably null
R7489:Ces2e	UTSW	8	104929780	missense	probably benign	0.26
R7548:Ces2e	UTSW	8	104931906	missense	probably benign
R8068:Ces2e	UTSW	8	104932997	critical splice donor site	probably null
R9426:Ces2e	UTSW	8	104929588	missense	probably damaging	1.00
Z1088:Ces2e	UTSW	8	104931347	missense	probably benign
Z1088:Ces2e	UTSW	8	104932398	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTCTCAGCACTGGAGACC -3'
(R):5'- ACCTTGAGTCTTTAAGAAAGCAGTG -3'

Sequencing Primer
(F):5'- ATACCTGGACCAAGTGGCTG -3'
(R):5'- AGCAGTGAAGGGAAGTTACTTC -3'

Posted On

2016-10-06