Mutagenetix > Incidental Mutation

Incidental Mutation 'R5529:Ces2e'

433584

Institutional Source

Beutler Lab

Gene Symbol

Ces2e

Ensembl Gene

ENSMUSG00000031886

Gene Name

carboxylesterase 2E

Synonyms

Ces5, 9030624L02Rik

MMRRC Submission

043087-MU

Accession Numbers

Essential gene?

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

Stock #

R5529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105652892-105661304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105656543 bp (GRCm39)

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: 71,304,040 (GRCm39)	Y2079C	probably damaging	Het
Alg2	T	C	4: 47,472,101 (GRCm39)	R236G	probably damaging	Het
Alpl	T	A	4: 137,473,733 (GRCm39)	N323I	probably damaging	Het
Anxa3	A	G	5: 96,976,238 (GRCm39)	E172G	probably benign	Het
Atp8a2	A	G	14: 60,031,314 (GRCm39)		probably null	Het
Cadps	T	C	14: 12,454,285 (GRCm38)	K1078E	probably damaging	Het
Ccn5	T	C	2: 163,667,279 (GRCm39)		probably null	Het
Daam2	A	G	17: 49,766,085 (GRCm39)	F1041S	probably benign	Het
Dcstamp	A	G	15: 39,617,932 (GRCm39)	I114V	probably benign	Het
Ddhd2	C	T	8: 26,229,587 (GRCm39)	R496Q	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Eml6	T	A	11: 29,714,126 (GRCm39)	R1335S	probably benign	Het
F12	T	C	13: 55,569,872 (GRCm39)	N102S	probably benign	Het
Fbn1	G	A	2: 125,215,870 (GRCm39)	L712F	probably benign	Het
Fgf1	G	T	18: 38,991,657 (GRCm39)	F37L	probably damaging	Het
Fgf14	T	A	14: 124,217,867 (GRCm39)	H212L	probably damaging	Het
Gm10036	A	T	18: 15,965,858 (GRCm39)	Q3L	probably benign	Het
Hivep1	T	C	13: 42,310,126 (GRCm39)	F789L	possibly damaging	Het
Hspg2	C	A	4: 137,279,139 (GRCm39)	T3074N	probably damaging	Het
Katnb1	C	T	8: 95,824,300 (GRCm39)	R495C	probably damaging	Het
Kdm5b	C	T	1: 134,515,741 (GRCm39)	H122Y	probably damaging	Het
Ky	C	T	9: 102,419,274 (GRCm39)	S427L	probably benign	Het
Med9	T	G	11: 59,851,486 (GRCm39)	V105G	probably benign	Het
Ndufa11	T	A	17: 57,028,059 (GRCm39)	V43D	probably damaging	Het
Nlrp4b	T	A	7: 10,448,873 (GRCm39)	C359S	possibly damaging	Het
Or12k8	T	A	2: 36,974,921 (GRCm39)	I280F	possibly damaging	Het
Or51e1	A	T	7: 102,358,900 (GRCm39)	K145*	probably null	Het
Paxbp1	T	A	16: 90,827,401 (GRCm39)	Y478F	possibly damaging	Het
Pole	G	A	5: 110,480,332 (GRCm39)	E92K	probably benign	Het
Prom1	G	T	5: 44,184,110 (GRCm39)	L449M	probably damaging	Het
Psg28	G	A	7: 18,164,373 (GRCm39)	T113I	probably benign	Het
Reln	A	C	5: 22,137,713 (GRCm39)	V2493G	possibly damaging	Het
Rp1	C	T	1: 4,416,055 (GRCm39)	V1686I	probably benign	Het
Setbp1	T	C	18: 79,129,867 (GRCm39)	I122V	probably damaging	Het
Setd5	T	C	6: 113,098,529 (GRCm39)	Y721H	probably damaging	Het
Shroom1	T	C	11: 53,354,749 (GRCm39)	F223S	probably damaging	Het
Son	T	A	16: 91,452,354 (GRCm39)	L367Q	probably damaging	Het
Spred2	G	T	11: 19,971,301 (GRCm39)	D363Y	probably damaging	Het
Tbc1d8	T	G	1: 39,411,836 (GRCm39)	Y1000S	probably benign	Het
Tdp2	A	T	13: 25,022,219 (GRCm39)	K213*	probably null	Het
Tmem89	T	C	9: 108,744,545 (GRCm39)	I146T	probably damaging	Het
Vhl	T	C	6: 113,606,424 (GRCm39)	V147A	probably benign	Het
Vmn2r23	C	T	6: 123,690,410 (GRCm39)	L429F	probably benign	Het
Vrk2	T	C	11: 26,449,036 (GRCm39)	D186G	probably damaging	Het
Zbtb40	A	G	4: 136,710,474 (GRCm39)	F1222L	possibly damaging	Het
Zfp266	A	G	9: 20,418,030 (GRCm39)	S7P	probably damaging	Het
Zfp472	T	A	17: 33,197,407 (GRCm39)	I494K	possibly damaging	Het
Zfp655	A	G	5: 145,181,546 (GRCm39)	E468G	probably damaging	Het

Other mutations in Ces2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Ces2e	APN	8	105,656,197 (GRCm39)	missense	probably benign	0.42
IGL02045:Ces2e	APN	8	105,657,290 (GRCm39)	splice site	probably benign
IGL02656:Ces2e	APN	8	105,653,688 (GRCm39)	missense	possibly damaging	0.94
IGL02904:Ces2e	APN	8	105,657,970 (GRCm39)	missense	probably benign
IGL02972:Ces2e	APN	8	105,653,693 (GRCm39)	missense	probably damaging	1.00
IGL03244:Ces2e	APN	8	105,655,451 (GRCm39)	missense	probably benign	0.38
R0585:Ces2e	UTSW	8	105,656,453 (GRCm39)	missense	probably damaging	1.00
R0762:Ces2e	UTSW	8	105,656,496 (GRCm39)	missense	probably damaging	0.98
R1004:Ces2e	UTSW	8	105,656,370 (GRCm39)	missense	probably damaging	1.00
R1168:Ces2e	UTSW	8	105,653,646 (GRCm39)	missense	possibly damaging	0.49
R1731:Ces2e	UTSW	8	105,656,208 (GRCm39)	missense	probably damaging	1.00
R2134:Ces2e	UTSW	8	105,659,171 (GRCm39)	critical splice donor site	probably null
R3087:Ces2e	UTSW	8	105,657,347 (GRCm39)	missense	probably benign	0.18
R3693:Ces2e	UTSW	8	105,655,443 (GRCm39)	missense	probably damaging	1.00
R4622:Ces2e	UTSW	8	105,655,341 (GRCm39)	splice site	probably null
R4873:Ces2e	UTSW	8	105,653,817 (GRCm39)	missense	probably damaging	1.00
R4875:Ces2e	UTSW	8	105,653,817 (GRCm39)	missense	probably damaging	1.00
R4965:Ces2e	UTSW	8	105,660,330 (GRCm39)	missense	probably benign	0.09
R5365:Ces2e	UTSW	8	105,653,846 (GRCm39)	critical splice donor site	probably null
R5601:Ces2e	UTSW	8	105,656,126 (GRCm39)	missense	probably benign	0.42
R5968:Ces2e	UTSW	8	105,659,627 (GRCm39)	missense	probably damaging	1.00
R6128:Ces2e	UTSW	8	105,655,428 (GRCm39)	missense	probably benign	0.03
R7337:Ces2e	UTSW	8	105,657,688 (GRCm39)	splice site	probably null
R7363:Ces2e	UTSW	8	105,659,632 (GRCm39)	splice site	probably null
R7489:Ces2e	UTSW	8	105,656,412 (GRCm39)	missense	probably benign	0.26
R7548:Ces2e	UTSW	8	105,658,538 (GRCm39)	missense	probably benign
R8068:Ces2e	UTSW	8	105,659,629 (GRCm39)	critical splice donor site	probably null
R9426:Ces2e	UTSW	8	105,656,220 (GRCm39)	missense	probably damaging	1.00
Z1088:Ces2e	UTSW	8	105,659,030 (GRCm39)	critical splice acceptor site	probably null
Z1088:Ces2e	UTSW	8	105,657,979 (GRCm39)	missense	probably benign

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