Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00806:Lpl'

13590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lpl

Ensembl Gene

ENSMUSG00000015568

Gene Name

lipoprotein lipase

Synonyms

O 1-4-5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00806

Quality Score

Status

Chromosome

Chromosomal Location

69333207-69359584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69355018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 469 (S469P)

Ref Sequence

ENSEMBL: ENSMUSP00000132259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015712] [ENSMUST00000168401]

AlphaFold

P11152

Predicted Effect

probably benign
Transcript: ENSMUST00000015712
AA Change: S469P

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

SMART Domains

Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: S469P

Domain	Start	End	E-Value	Type
Pfam:Lipase	19	338	7.8e-133	PFAM
LH2	341	465	2.65e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168401
AA Change: S469P

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

SMART Domains

Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: S469P

Domain	Start	End	E-Value	Type
Pfam:Lipase	19	338	1.1e-117	PFAM
Pfam:Abhydrolase_6	76	264	3e-10	PFAM
LH2	341	465	2.65e-27	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	C	8: 43,974,379 (GRCm39)	Y208D	probably damaging	Het
Birc6	T	A	17: 74,918,524 (GRCm39)	V18D	possibly damaging	Het
Copb2	T	C	9: 98,452,717 (GRCm39)	C104R	probably damaging	Het
Eif2ak4	A	G	2: 118,271,647 (GRCm39)	E76G	probably benign	Het
Flrt2	T	C	12: 95,747,303 (GRCm39)	I547T	probably damaging	Het
Golga1	A	T	2: 38,942,985 (GRCm39)	L95*	probably null	Het
Itga8	G	A	2: 12,260,777 (GRCm39)	Q224*	probably null	Het
Kcnt2	T	C	1: 140,450,949 (GRCm39)	Y693H	probably damaging	Het
Kctd4	A	T	14: 76,200,448 (GRCm39)	T140S	probably benign	Het
Naf1	A	G	8: 67,338,452 (GRCm39)	Q406R	probably damaging	Het
Pdgfd	A	G	9: 6,288,667 (GRCm39)	D107G	probably benign	Het
Rell1	T	C	5: 64,095,157 (GRCm39)	E103G	probably damaging	Het
Rrm2b	C	T	15: 37,931,866 (GRCm39)	D45N	probably benign	Het
Setx	A	G	2: 29,017,038 (GRCm39)	Y47C	probably damaging	Het
Snx1	A	T	9: 65,996,867 (GRCm39)	Y462*	probably null	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	probably damaging	Het

Other mutations in Lpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Lpl	APN	8	69,345,277 (GRCm39)	nonsense	probably null
IGL01370:Lpl	APN	8	69,340,220 (GRCm39)	missense	possibly damaging	0.92
IGL01420:Lpl	APN	8	69,340,085 (GRCm39)	splice site	probably benign
IGL02034:Lpl	APN	8	69,333,424 (GRCm39)	missense	possibly damaging	0.64
IGL02227:Lpl	APN	8	69,348,452 (GRCm39)	missense	probably damaging	0.99
IGL02949:Lpl	APN	8	69,345,400 (GRCm39)	missense	probably damaging	1.00
IGL03237:Lpl	APN	8	69,347,378 (GRCm39)	missense	possibly damaging	0.90
Bensadoun	UTSW	8	69,349,459 (GRCm39)	missense	probably benign	0.03
R0064:Lpl	UTSW	8	69,345,356 (GRCm39)	missense	probably damaging	1.00
R0064:Lpl	UTSW	8	69,345,356 (GRCm39)	missense	probably damaging	1.00
R0490:Lpl	UTSW	8	69,349,343 (GRCm39)	missense	probably damaging	0.98
R1252:Lpl	UTSW	8	69,345,311 (GRCm39)	missense	probably benign	0.03
R1331:Lpl	UTSW	8	69,349,281 (GRCm39)	missense	probably damaging	0.99
R1376:Lpl	UTSW	8	69,340,250 (GRCm39)	missense	probably damaging	1.00
R1376:Lpl	UTSW	8	69,340,250 (GRCm39)	missense	probably damaging	1.00
R1444:Lpl	UTSW	8	69,345,399 (GRCm39)	missense	probably damaging	0.99
R1722:Lpl	UTSW	8	69,349,254 (GRCm39)	frame shift	probably null
R1826:Lpl	UTSW	8	69,354,943 (GRCm39)	missense	possibly damaging	0.62
R1867:Lpl	UTSW	8	69,349,254 (GRCm39)	frame shift	probably null
R1874:Lpl	UTSW	8	69,349,271 (GRCm39)	missense	probably damaging	1.00
R1970:Lpl	UTSW	8	69,349,454 (GRCm39)	nonsense	probably null
R2401:Lpl	UTSW	8	69,353,895 (GRCm39)	missense	possibly damaging	0.52
R2516:Lpl	UTSW	8	69,340,170 (GRCm39)	missense	probably benign	0.00
R2850:Lpl	UTSW	8	69,352,164 (GRCm39)	nonsense	probably null
R4688:Lpl	UTSW	8	69,352,077 (GRCm39)	missense	probably damaging	1.00
R4773:Lpl	UTSW	8	69,349,403 (GRCm39)	missense	probably damaging	1.00
R4962:Lpl	UTSW	8	69,347,345 (GRCm39)	missense	probably damaging	1.00
R4993:Lpl	UTSW	8	69,348,445 (GRCm39)	missense	probably benign	0.23
R5343:Lpl	UTSW	8	69,348,389 (GRCm39)	missense	probably damaging	1.00
R6018:Lpl	UTSW	8	69,353,940 (GRCm39)	missense	probably benign
R6082:Lpl	UTSW	8	69,349,301 (GRCm39)	missense	probably damaging	0.98
R6137:Lpl	UTSW	8	69,345,399 (GRCm39)	missense	probably damaging	0.99
R6589:Lpl	UTSW	8	69,349,459 (GRCm39)	missense	probably benign	0.03
R7730:Lpl	UTSW	8	69,340,100 (GRCm39)	nonsense	probably null
R8214:Lpl	UTSW	8	69,345,257 (GRCm39)	missense	probably damaging	1.00
R8274:Lpl	UTSW	8	69,345,250 (GRCm39)	missense	possibly damaging	0.94
R8353:Lpl	UTSW	8	69,348,433 (GRCm39)	missense	probably damaging	1.00
R8453:Lpl	UTSW	8	69,348,433 (GRCm39)	missense	probably damaging	1.00
R8805:Lpl	UTSW	8	69,340,215 (GRCm39)	missense	probably damaging	1.00
R8807:Lpl	UTSW	8	69,345,280 (GRCm39)	missense	probably damaging	1.00
R9323:Lpl	UTSW	8	69,340,196 (GRCm39)	missense	possibly damaging	0.90
R9395:Lpl	UTSW	8	69,353,952 (GRCm39)	missense	probably damaging	0.99
R9568:Lpl	UTSW	8	69,340,235 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06