Mutagenetix > Incidental Mutation

Incidental Mutation 'R0865:Cel'

82279

Institutional Source

Beutler Lab

Gene Symbol

Cel

Ensembl Gene

ENSMUSG00000026818

Gene Name

carboxyl ester lipase

Synonyms

BAL, 1810036E18Rik

MMRRC Submission

039039-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R0865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28445831-28453415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28450627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 133 (S133P)

Ref Sequence

ENSEMBL: ENSMUSP00000028161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028161]

AlphaFold

Q64285

Predicted Effect

probably damaging
Transcript: ENSMUST00000028161
AA Change: S133P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818
AA Change: S133P

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	542	2.4e-163	PFAM
Pfam:Abhydrolase_3	121	226	8e-8	PFAM
low complexity region	568	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177012

Meta Mutation Damage Score

0.0892

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.5%
20x: 95.2%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,479,843 (GRCm39)	E581G	probably damaging	Het
Adcy5	A	G	16: 35,094,841 (GRCm39)	N666S	probably damaging	Het
Apcs	T	C	1: 172,721,782 (GRCm39)	D188G	probably benign	Het
Arih2	A	G	9: 108,526,499 (GRCm39)		probably benign	Het
AU040320	A	G	4: 126,742,677 (GRCm39)	K981E	possibly damaging	Het
Brwd1	A	T	16: 95,869,784 (GRCm39)	I81K	probably damaging	Het
Cacng8	T	A	7: 3,460,625 (GRCm39)	I136N	possibly damaging	Het
Cdh22	A	T	2: 165,022,976 (GRCm39)	W32R	probably damaging	Het
Clasp2	A	G	9: 113,740,568 (GRCm39)	T495A	possibly damaging	Het
Clock	A	T	5: 76,414,271 (GRCm39)		probably benign	Het
Cox6a2	A	G	7: 127,804,995 (GRCm39)		probably benign	Het
Cyp2b19	C	A	7: 26,461,654 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 118,154,579 (GRCm39)	Q234*	probably null	Het
Gga3	A	T	11: 115,483,285 (GRCm39)	N91K	probably damaging	Het
Idh1	T	C	1: 65,200,315 (GRCm39)	T350A	probably benign	Het
Ints11	A	G	4: 155,971,564 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,436,732 (GRCm39)		probably null	Het
Kank4	A	T	4: 98,662,900 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,315,194 (GRCm39)	D281E	probably benign	Het
Kmt2a	T	C	9: 44,730,067 (GRCm39)		probably benign	Het
Kpna4	T	C	3: 69,008,750 (GRCm39)	E145G	probably damaging	Het
Lacc1	A	G	14: 77,271,584 (GRCm39)	I201T	possibly damaging	Het
Larp7	T	C	3: 127,337,884 (GRCm39)	K392E	probably damaging	Het
Lbh	T	A	17: 73,228,224 (GRCm39)	M23K	probably benign	Het
Myo15a	A	T	11: 60,382,514 (GRCm39)	E361V	probably damaging	Het
Ncor2	A	G	5: 125,116,046 (GRCm39)	S470P	probably benign	Het
Ngef	T	A	1: 87,412,323 (GRCm39)	M449L	probably benign	Het
Odad1	A	G	7: 45,591,512 (GRCm39)	T259A	probably benign	Het
Or2w3	T	C	11: 58,556,478 (GRCm39)	I31T	possibly damaging	Het
Or7e178	T	A	9: 20,226,045 (GRCm39)	Y57F	probably damaging	Het
Peak1	A	T	9: 56,165,116 (GRCm39)	D937E	probably benign	Het
Pnpla7	A	G	2: 24,872,135 (GRCm39)	K72E	probably benign	Het
Ptprn	T	G	1: 75,224,782 (GRCm39)		probably null	Het
Scgn	C	T	13: 24,146,102 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,741,748 (GRCm39)	I824V	probably benign	Het
Slc38a3	A	G	9: 107,532,847 (GRCm39)	S326P	probably damaging	Het
Spen	A	G	4: 141,199,181 (GRCm39)	S3126P	probably benign	Het
Tbcd	T	C	11: 121,493,815 (GRCm39)	C902R	possibly damaging	Het
Tmem63b	T	C	17: 45,972,445 (GRCm39)	I721V	probably benign	Het
Trim30c	A	G	7: 104,039,658 (GRCm39)	S46P	probably damaging	Het
Trim59	T	C	3: 68,944,941 (GRCm39)	D133G	probably damaging	Het
Trpm7	A	T	2: 126,641,159 (GRCm39)		probably null	Het
Ttll10	A	G	4: 156,128,135 (GRCm39)	L391P	probably damaging	Het
Ttn	T	C	2: 76,623,585 (GRCm39)	T15331A	possibly damaging	Het
Vmn1r237	C	T	17: 21,534,976 (GRCm39)	T233I	probably damaging	Het
Vmn2r115	A	T	17: 23,565,382 (GRCm39)	D423V	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,976 (GRCm39)	R58S	probably benign	Het
Vmn2r71	A	T	7: 85,268,516 (GRCm39)	I240F	probably benign	Het
Wdr3	A	G	3: 100,060,112 (GRCm39)		probably benign	Het
Zc3h14	T	C	12: 98,745,528 (GRCm39)		probably null	Het
Zc3hav1	C	T	6: 38,330,837 (GRCm39)		probably benign	Het
Zfp335	A	T	2: 164,741,415 (GRCm39)		probably null	Het

Other mutations in Cel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Cel	APN	2	28,449,397 (GRCm39)	missense	probably damaging	0.98
IGL01327:Cel	APN	2	28,447,967 (GRCm39)	missense	possibly damaging	0.61
IGL01606:Cel	APN	2	28,450,576 (GRCm39)	missense	probably benign	0.04
R0304:Cel	UTSW	2	28,447,783 (GRCm39)	missense	probably benign	0.04
R0321:Cel	UTSW	2	28,451,160 (GRCm39)	missense	probably benign	0.00
R1123:Cel	UTSW	2	28,446,752 (GRCm39)	missense	probably damaging	1.00
R1424:Cel	UTSW	2	28,449,636 (GRCm39)	missense	probably damaging	0.99
R1448:Cel	UTSW	2	28,446,338 (GRCm39)	missense	probably damaging	1.00
R1597:Cel	UTSW	2	28,450,479 (GRCm39)	splice site	probably benign
R1717:Cel	UTSW	2	28,446,789 (GRCm39)	missense	probably damaging	1.00
R2256:Cel	UTSW	2	28,451,204 (GRCm39)	missense	probably damaging	1.00
R3149:Cel	UTSW	2	28,446,143 (GRCm39)	missense	probably benign	0.04
R4105:Cel	UTSW	2	28,448,039 (GRCm39)	missense	probably benign	0.35
R4520:Cel	UTSW	2	28,447,980 (GRCm39)	missense	probably benign	0.08
R5135:Cel	UTSW	2	28,449,435 (GRCm39)	missense	probably benign	0.39
R5318:Cel	UTSW	2	28,447,720 (GRCm39)	missense	possibly damaging	0.77
R5323:Cel	UTSW	2	28,450,530 (GRCm39)	missense	probably damaging	1.00
R5958:Cel	UTSW	2	28,450,957 (GRCm39)	missense	probably damaging	0.97
R6803:Cel	UTSW	2	28,448,060 (GRCm39)	missense	probably benign	0.36
R6976:Cel	UTSW	2	28,446,854 (GRCm39)	missense	probably damaging	1.00
R7342:Cel	UTSW	2	28,450,649 (GRCm39)	nonsense	probably null
R8496:Cel	UTSW	2	28,446,200 (GRCm39)	missense	probably benign	0.39
R9062:Cel	UTSW	2	28,451,214 (GRCm39)	missense	probably benign	0.38
R9223:Cel	UTSW	2	28,449,441 (GRCm39)	frame shift	probably null
R9224:Cel	UTSW	2	28,449,441 (GRCm39)	frame shift	probably null
R9385:Cel	UTSW	2	28,450,587 (GRCm39)	missense	probably damaging	0.99
R9695:Cel	UTSW	2	28,450,961 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTCCCGCTCTTACAGTCGGAGG -3'
(R):5'- CCATTTGGTGTCGTCAAGCTCAAC -3'

Sequencing Primer
(F):5'- GCTCCGACATACCTGGAAG -3'
(R):5'- GCCCTGAAATCAGCACTGAG -3'

Posted On

2013-11-08