Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Lpl'

672006

Institutional Source

Beutler Lab

Gene Symbol

Lpl

Ensembl Gene

ENSMUSG00000015568

Gene Name

lipoprotein lipase

Synonyms

O 1-4-5

MMRRC Submission

068642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69333207-69359584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69340215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 70 (N70S)

Ref Sequence

ENSEMBL: ENSMUSP00000015712 (fasta)

Gene Model

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

AlphaFold

P11152

Predicted Effect

probably damaging
Transcript: ENSMUST00000015712
AA Change: N70S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: N70S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168401
AA Change: N70S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: N70S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,226,737 (GRCm39)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,313,285 (GRCm39)		probably benign	Het
Actl6b	G	A	5: 137,552,918 (GRCm39)	M82I	probably benign	Het
Bmp2	T	A	2: 133,403,254 (GRCm39)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,415,298 (GRCm39)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,601,712 (GRCm39)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,733,576 (GRCm39)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,211,979 (GRCm39)	A1669T	unknown	Het
Cfap58	A	T	19: 47,941,535 (GRCm39)	E301V	probably damaging	Het
Clcn2	C	A	16: 20,532,168 (GRCm39)	G96C	probably damaging	Het
Cotl1	T	A	8: 120,536,944 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,216,110 (GRCm39)	A812T	probably damaging	Het
Cracd	T	C	5: 77,006,489 (GRCm39)	V950A	unknown	Het
Crnkl1	T	C	2: 145,773,350 (GRCm39)		probably null	Het
Cry1	A	G	10: 84,992,969 (GRCm39)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,540,530 (GRCm39)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,327,462 (GRCm39)	F425L	probably damaging	Het
Dek	A	T	13: 47,252,930 (GRCm39)	N158K	unknown	Het
Dgcr8	T	A	16: 18,076,161 (GRCm39)	Q674L	probably damaging	Het
Dlec1	C	A	9: 118,941,650 (GRCm39)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,273,305 (GRCm39)	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,361,963 (GRCm39)	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,862,227 (GRCm39)	L186M		Het
Fn1	T	C	1: 71,644,239 (GRCm39)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,813,453 (GRCm39)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,681,042 (GRCm39)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,116,657 (GRCm39)	D131G		Het
Gpatch8	T	C	11: 102,371,018 (GRCm39)	E840G	unknown	Het
Grm5	G	A	7: 87,453,176 (GRCm39)	R271Q	probably damaging	Het
Has3	A	T	8: 107,601,135 (GRCm39)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Il2	T	A	3: 37,177,282 (GRCm39)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,668,273 (GRCm39)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,905,379 (GRCm39)	I154F	probably damaging	Het
Krt1c	T	C	15: 101,724,379 (GRCm39)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,090,308 (GRCm39)	D163V	probably damaging	Het
Mgme1	A	G	2: 144,114,451 (GRCm39)		probably benign	Het
Mnd1	T	A	3: 83,995,432 (GRCm39)	E187D	probably benign	Het
Morn5	A	G	2: 35,969,533 (GRCm39)	D149G	probably benign	Het
Mrrf	G	A	2: 36,037,965 (GRCm39)	V79I	probably damaging	Het
Msh4	T	A	3: 153,563,270 (GRCm39)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,015,303 (GRCm39)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,803,880 (GRCm39)	C130S	unknown	Het
Ntn5	A	T	7: 45,333,899 (GRCm39)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,012,580 (GRCm39)	V175A	probably benign	Het
Osm	A	G	11: 4,189,839 (GRCm39)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,578,891 (GRCm39)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,390,104 (GRCm39)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,758,910 (GRCm39)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,435,155 (GRCm39)	S524T	probably benign	Het
Prkd1	T	A	12: 50,435,156 (GRCm39)	S524C	probably damaging	Het
Rab4b	T	C	7: 26,874,148 (GRCm39)	I90V		Het
Rc3h1	T	C	1: 160,795,222 (GRCm39)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,524,316 (GRCm39)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,702,558 (GRCm39)	Y332C	probably damaging	Het
Senp2	A	G	16: 21,846,789 (GRCm39)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,532,345 (GRCm39)	M396V	probably benign	Het
Sord	G	A	2: 122,094,607 (GRCm39)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,344,653 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,577 (GRCm39)	R53H	probably benign	Het
Stard4	T	G	18: 33,336,749 (GRCm39)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,219,094 (GRCm39)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,713,859 (GRCm39)	K227*	probably null	Het
Taf4b	C	T	18: 14,946,485 (GRCm39)	P436L	possibly damaging	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Tmem158	A	G	9: 123,089,309 (GRCm39)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm39)	S77P	probably benign	Het
Ttn	A	T	2: 76,720,307 (GRCm39)	L6973*	probably null	Het
Tubal3	T	C	13: 3,983,293 (GRCm39)	F358L	probably damaging	Het
Tut4	T	C	4: 108,406,575 (GRCm39)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,219,273 (GRCm39)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Yipf1	A	T	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,898,846 (GRCm39)		probably null	Het
Zfp655	C	T	5: 145,181,290 (GRCm39)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,622,410 (GRCm39)	T445I	possibly damaging	Het

Other mutations in Lpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Lpl	APN	8	69,355,018 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTCGGTCCTGAGTAAAACC -3'
(R):5'- CTGTGTTGAAACAAAGGTGGGC -3'

Sequencing Primer
(F):5'- TCGGTCCTGAGTAAAACCAAATAATC -3'
(R):5'- ACGATTGGGGCTATCATGAACC -3'

Posted On

2021-04-30