Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Cel'

396097

Institutional Source

Beutler Lab

Gene Symbol

Cel

Ensembl Gene

ENSMUSG00000026818

Gene Name

carboxyl ester lipase

Synonyms

BAL, 1810036E18Rik

MMRRC Submission

043261-MU

Accession Numbers

Essential gene?

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

Stock #

R5135 (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 28449435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 264 (V264A)

Ref Sequence

ENSEMBL: ENSMUSP00000028161 (fasta)

Gene Model

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

AlphaFold

Q64285

Predicted Effect

probably benign
Transcript: ENSMUST00000028161
AA Change: V264A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818
AA Change: V264A

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

0.1065

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 183,765,703 (GRCm39)	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,786,508 (GRCm39)	H37N	unknown	Het
Adam10	T	A	9: 70,673,356 (GRCm39)	C496S	probably damaging	Het
Aldh18a1	A	C	19: 40,543,261 (GRCm39)		probably benign	Het
Alox5	A	G	6: 116,390,747 (GRCm39)	F468S	probably benign	Het
Ankrd50	T	C	3: 38,509,952 (GRCm39)	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,481,248 (GRCm39)	D72E	probably damaging	Het
Apaf1	T	C	10: 90,895,956 (GRCm39)	Y372C	probably damaging	Het
Apob	C	T	12: 8,060,086 (GRCm39)	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,763,831 (GRCm39)	V70A	probably damaging	Het
Bltp3b	T	C	10: 89,625,217 (GRCm39)	I48T	probably damaging	Het
Cdc42bpg	T	A	19: 6,370,648 (GRCm39)	L1247H	probably damaging	Het
Celsr2	T	C	3: 108,305,975 (GRCm39)	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,660,707 (GRCm39)	W706R	probably damaging	Het
Col22a1	G	T	15: 71,671,186 (GRCm39)	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dhx30	T	G	9: 109,927,863 (GRCm39)	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,637,122 (GRCm39)	R452H	probably damaging	Het
Dnah12	T	A	14: 26,492,434 (GRCm39)	D1191E	probably damaging	Het
Dock3	A	T	9: 106,810,196 (GRCm39)	I164N	probably damaging	Het
Edrf1	T	A	7: 133,252,773 (GRCm39)	M436K	probably benign	Het
Eif2ak2	T	A	17: 79,173,774 (GRCm39)	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,418,277 (GRCm39)	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,056,709 (GRCm39)	E252G	probably damaging	Het
Gcm2	A	G	13: 41,256,435 (GRCm39)	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm4846	T	C	1: 166,311,551 (GRCm39)	D436G	probably damaging	Het
Gm5414	T	A	15: 101,536,203 (GRCm39)	I141F	probably damaging	Het
Gm6185	T	A	1: 161,025,801 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,750,897 (GRCm39)	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,462,490 (GRCm39)	V160E	probably benign	Het
Hormad1	T	C	3: 95,492,531 (GRCm39)		probably benign	Het
Ighv2-1	A	T	12: 113,538,082 (GRCm39)		probably benign	Het
Igkv4-92	A	T	6: 68,732,538 (GRCm39)	C14S	probably benign	Het
Iqsec3	T	C	6: 121,360,878 (GRCm39)	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,516,484 (GRCm39)		probably benign	Het
Kitl	T	C	10: 99,924,084 (GRCm39)		probably null	Het
Klhl26	G	T	8: 70,905,368 (GRCm39)	R100S	probably benign	Het
Kpna4	C	T	3: 69,000,142 (GRCm39)		probably null	Het
Lama5	T	A	2: 179,844,013 (GRCm39)	N383Y	possibly damaging	Het
Large1	T	G	8: 73,544,724 (GRCm39)	I685L	probably benign	Het
Larp4b	A	G	13: 9,220,773 (GRCm39)	E590G	probably damaging	Het
Liph	A	T	16: 21,774,915 (GRCm39)	C425*	probably null	Het
Lrrc31	A	T	3: 30,739,039 (GRCm39)	C327*	probably null	Het
Lrrc36	T	C	8: 106,190,530 (GRCm39)	V733A	probably benign	Het
Mmel1	T	A	4: 154,966,781 (GRCm39)	I83K	probably benign	Het
Myo16	G	T	8: 10,526,114 (GRCm39)	V885L	probably benign	Het
Naip2	A	T	13: 100,315,948 (GRCm39)	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,391,406 (GRCm39)	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,174,245 (GRCm39)	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,020,479 (GRCm39)	V922E	probably damaging	Het
Oc90	A	G	15: 65,755,679 (GRCm39)	S223P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a80	A	T	2: 89,582,239 (GRCm39)	L311H	possibly damaging	Het
Or4e1	T	C	14: 52,701,311 (GRCm39)	I52V	probably benign	Het
Pakap	G	T	4: 57,855,912 (GRCm39)	A414S	probably benign	Het
Pdlim5	C	T	3: 142,010,126 (GRCm39)	R174H	probably benign	Het
Pex5l	G	T	3: 33,009,980 (GRCm39)	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,249,229 (GRCm39)		probably benign	Het
Pramel12	T	G	4: 143,145,579 (GRCm39)	S349R	probably benign	Het
Prl8a1	A	T	13: 27,763,802 (GRCm39)		probably null	Het
Ryr2	G	T	13: 11,677,016 (GRCm39)	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,406,090 (GRCm39)	M324V	probably benign	Het
Sdad1	T	C	5: 92,451,793 (GRCm39)	T143A	probably benign	Het
Sec11a	A	T	7: 80,572,812 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,424,239 (GRCm39)	V223A	probably damaging	Het
Serpinb6c	A	G	13: 34,064,080 (GRCm39)	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,635,125 (GRCm39)	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,428 (GRCm39)	N22D	unknown	Het
Stard13	C	T	5: 150,986,232 (GRCm39)	W308*	probably null	Het
Tanc2	C	T	11: 105,748,379 (GRCm39)	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,614,337 (GRCm39)	N282K	probably damaging	Het
Usp36	G	T	11: 118,155,731 (GRCm39)	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,561,527 (GRCm39)	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,419,118 (GRCm39)		noncoding transcript	Het
Zfp1002	A	T	2: 150,097,410 (GRCm39)	Y34*	probably null	Het
Zfp663	A	T	2: 165,195,590 (GRCm39)	C210S	possibly damaging	Het
Zfp747	T	C	7: 126,973,566 (GRCm39)	I201M	probably damaging	Het
Zic4	C	T	9: 91,266,205 (GRCm39)	T276M	probably damaging	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
R0865:Cel	UTSW	2	28,450,627 (GRCm39)	missense	probably damaging	1.00
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
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'- GTCTTCTTCAGGAGCTCAGC -3'
(R):5'- CAGAGTGGTATGGCACTGAG -3'

Sequencing Primer
(F):5'- TTCAGGAGCTCAGCCTTGC -3'
(R):5'- TCCAGAAGAACCCACTTTTCTGG -3'

Posted On

2016-06-21