Mutagenetix > Incidental Mutations

Incidental Mutation 'R1611:Lipg'

176832

Institutional Source

Beutler Lab

Gene Symbol

Lipg

Ensembl Gene

ENSMUSG00000053846

Gene Name

lipase, endothelial

Synonyms

endothelial lipase, EL, mEDL, 3110013K01Rik

MMRRC Submission

039648-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74939322-74961263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74948059 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 317 (N317S)

Ref Sequence

ENSEMBL: ENSMUSP00000066536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066532]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066532
AA Change: N317S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066536
Gene: ENSMUSG00000053846
AA Change: N317S

Domain	Start	End	E-Value	Type
Pfam:Lipase	20	344	3.1e-108	PFAM
LH2	347	483	5.66e-6	SMART

Meta Mutation Damage Score

0.122

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased circulating total cholesterol and HDL as well as decreased monocyte binding to vascular endothelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	A	1: 136,216,117	P527L	probably damaging	Het
Acsl6	A	T	11: 54,325,564	I186F	possibly damaging	Het
Actr6	T	A	10: 89,732,202	K14*	probably null	Het
Adgrv1	A	T	13: 81,559,117	V1390E	probably damaging	Het
Akap1	C	T	11: 88,845,278	R186K	probably benign	Het
Alg10b	T	A	15: 90,225,781	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,442,852	G407S	probably damaging	Het
Atp9a	T	C	2: 168,673,569	M401V	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bclaf1	T	C	10: 20,323,252		probably benign	Het
Bcr	T	A	10: 75,125,202		probably null	Het
Bivm	T	C	1: 44,126,747	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,381,471	I1632T	probably damaging	Het
Capn9	G	A	8: 124,611,512	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,641,575		probably benign	Het
Cdk18	T	A	1: 132,122,375	I21F	probably damaging	Het
Cep85l	T	C	10: 53,348,681	T271A	probably benign	Het
Chrm5	T	C	2: 112,479,187	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,361,828		probably benign	Het
Cpt1c	T	C	7: 44,960,112	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,249,303	Y64C	unknown	Het
Ddb1	T	A	19: 10,612,888	C260S	probably damaging	Het
Ddb1	T	A	19: 10,626,764		probably null	Het
Ddx58	T	C	4: 40,223,862	Y339C	probably damaging	Het
Depdc5	C	A	5: 32,990,953	Q1478K	probably damaging	Het
Diaph1	A	C	18: 37,900,702	M247R	unknown	Het
Dusp8	T	C	7: 142,082,957	S299G	probably benign	Het
Erbb4	C	A	1: 68,040,388	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,295,265	I370N	possibly damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843	Y27*	probably null	Het
Gnl1	C	T	17: 35,987,549	T395I	probably damaging	Het
Hpse2	G	A	19: 42,789,065	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,009,899	I116V	probably benign	Het
Kif24	A	T	4: 41,423,552	V233E	probably benign	Het
Klhl5	A	G	5: 65,164,649	T673A	probably benign	Het
Kmt2c	C	A	5: 25,359,311		probably null	Het
Lpin1	A	T	12: 16,577,218	L109Q	probably null	Het
Lyst	A	G	13: 13,634,897	E384G	probably damaging	Het
Micalcl	T	A	7: 112,381,464	I105N	probably damaging	Het
Muc4	C	T	16: 32,750,986	T288I	possibly damaging	Het
Naa35	G	T	13: 59,628,933	R574L	probably benign	Het
Ncor2	T	C	5: 125,110,020		probably benign	Het
Nedd9	T	A	13: 41,316,930	D249V	probably benign	Het
Nsg1	T	A	5: 38,138,716	K38*	probably null	Het
Nup155	T	A	15: 8,130,160	D518E	probably damaging	Het
Olfr152	T	A	2: 87,782,624	I28N	probably benign	Het
Ovol1	T	A	19: 5,551,070	H231L	probably damaging	Het
Parg	A	G	14: 32,238,570	I586V	probably damaging	Het
Pde7b	T	C	10: 20,434,490	N242S	probably benign	Het
Pias3	T	A	3: 96,699,697		probably null	Het
Pramef12	A	T	4: 144,392,812	V395E	probably benign	Het
Ptprf	A	G	4: 118,236,233	V404A	probably benign	Het
Rnf145	T	C	11: 44,551,798	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,570,852	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,653,505	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,492,874	I213T	possibly damaging	Het
Sil1	A	T	18: 35,269,088	V331E	possibly damaging	Het
Ski	A	G	4: 155,159,938	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,420,379	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,533,377	E75G	probably benign	Het
Sp1	T	A	15: 102,430,935	I436N	probably damaging	Het
Taf4b	A	T	18: 14,844,469	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,956,737		probably benign	Het
Vmn2r1	T	A	3: 64,104,537	C606*	probably null	Het
Wdr63	T	C	3: 146,095,358	Y115C	probably damaging	Het
Zfp341	C	A	2: 154,645,703	H702Q	probably damaging	Het

Other mutations in Lipg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Lipg	APN	18	74947971	critical splice donor site	probably null
IGL02340:Lipg	APN	18	74960875	splice site	probably null
IGL02804:Lipg	APN	18	74949088	missense	probably damaging	0.98
R0094:Lipg	UTSW	18	74945846	missense	probably benign	0.14
R0172:Lipg	UTSW	18	74948174	missense	possibly damaging	0.94
R0316:Lipg	UTSW	18	74960941	missense	probably benign	0.01
R0535:Lipg	UTSW	18	74954220	missense	probably damaging	1.00
R0567:Lipg	UTSW	18	74957369	missense	probably benign	0.01
R1171:Lipg	UTSW	18	74945823	missense	possibly damaging	0.71
R1554:Lipg	UTSW	18	74948047	missense	probably damaging	1.00
R1916:Lipg	UTSW	18	74960937	missense	probably benign	0.00
R2125:Lipg	UTSW	18	74945885	missense	probably benign
R4196:Lipg	UTSW	18	74945831	missense	probably damaging	1.00
R4629:Lipg	UTSW	18	74948036	nonsense	probably null
R5186:Lipg	UTSW	18	74960938	missense	probably benign	0.00
R5424:Lipg	UTSW	18	74954253	missense	probably damaging	1.00
R5708:Lipg	UTSW	18	74955434	missense	possibly damaging	0.49
R6416:Lipg	UTSW	18	74957236	missense	probably benign	0.00
R6493:Lipg	UTSW	18	74948024	missense	probably damaging	0.99
R6601:Lipg	UTSW	18	74948204	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTACTACACACCCTGCTCTTCAAG -3'
(R):5'- CCTGTGTTAAGAATCACCCACTGCC -3'

Sequencing Primer
(F):5'- ATGCCAGCCCGGGTTTTTAA -3'
(R):5'- CATGAGTGTGTATTGACCACTGAC -3'

Posted On

2014-04-24