Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Lpl'

285599

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 #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

69333207-69359584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69348452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 227 (V227A)

Ref Sequence

ENSEMBL: ENSMUSP00000132259 (fasta)

Gene Model

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

AlphaFold

P11152

Predicted Effect

probably damaging
Transcript: ENSMUST00000015712
AA Change: V227A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015712
Gene: ENSMUSG00000015568
AA Change: V227A

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: V227A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132259
Gene: ENSMUSG00000015568
AA Change: V227A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169749

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	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
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

2015-04-16