Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Lipi'

587234

Institutional Source

Beutler Lab

Gene Symbol

Lipi

Ensembl Gene

ENSMUSG00000032948

Gene Name

lipase, member I

Synonyms

D930038D03Rik, lpd1

MMRRC Submission

045712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75337402-75382949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75347103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 439 (V439M)

Ref Sequence

ENSEMBL: ENSMUSP00000053447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062721]

AlphaFold

F6YQT7

Predicted Effect

probably benign
Transcript: ENSMUST00000062721
AA Change: V439M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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 phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit postnatal lethality, tremors, abnormal gait, decreased body weight, retarded hair growth, and a defect in triglyceride metabolism resulting in hypertriglyceridemia and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	Het

Other mutations in Lipi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Lipi	APN	16	75,347,254 (GRCm39)	splice site	probably benign
IGL01863:Lipi	APN	16	75,347,114 (GRCm39)	missense	probably damaging	1.00
R1690:Lipi	UTSW	16	75,338,013 (GRCm39)	missense	probably damaging	1.00
R2045:Lipi	UTSW	16	75,347,087 (GRCm39)	missense	probably damaging	0.98
R4001:Lipi	UTSW	16	75,370,759 (GRCm39)	nonsense	probably null
R4387:Lipi	UTSW	16	75,370,843 (GRCm39)	missense	probably damaging	1.00
R4613:Lipi	UTSW	16	75,357,689 (GRCm39)	missense	probably benign	0.01
R4680:Lipi	UTSW	16	75,362,417 (GRCm39)	critical splice donor site	probably null
R5420:Lipi	UTSW	16	75,352,757 (GRCm39)	missense	possibly damaging	0.82
R5503:Lipi	UTSW	16	75,370,864 (GRCm39)	missense	probably benign	0.11
R5773:Lipi	UTSW	16	75,370,813 (GRCm39)	missense	probably damaging	1.00
R5813:Lipi	UTSW	16	75,370,798 (GRCm39)	missense	possibly damaging	0.91
R6312:Lipi	UTSW	16	75,370,803 (GRCm39)	missense	probably damaging	1.00
R6559:Lipi	UTSW	16	75,337,982 (GRCm39)	missense	probably benign	0.31
R7639:Lipi	UTSW	16	75,357,743 (GRCm39)	missense	probably benign	0.03
R8079:Lipi	UTSW	16	75,362,418 (GRCm39)	critical splice donor site	probably null
R8256:Lipi	UTSW	16	75,370,950 (GRCm39)	missense	probably benign	0.00
R8475:Lipi	UTSW	16	75,370,862 (GRCm39)	missense	probably benign	0.00
R8855:Lipi	UTSW	16	75,355,481 (GRCm39)	missense	probably damaging	1.00
R8888:Lipi	UTSW	16	75,352,710 (GRCm39)	missense	probably benign	0.05
R8895:Lipi	UTSW	16	75,352,710 (GRCm39)	missense	probably benign	0.05
R9112:Lipi	UTSW	16	75,359,159 (GRCm39)	missense	probably damaging	1.00
R9182:Lipi	UTSW	16	75,357,673 (GRCm39)	nonsense	probably null
R9198:Lipi	UTSW	16	75,362,461 (GRCm39)	missense	possibly damaging	0.60
R9601:Lipi	UTSW	16	75,352,706 (GRCm39)	missense	possibly damaging	0.94
R9658:Lipi	UTSW	16	75,357,689 (GRCm39)	missense	probably benign	0.01
X0017:Lipi	UTSW	16	75,347,243 (GRCm39)	missense	probably benign	0.00
X0019:Lipi	UTSW	16	75,352,703 (GRCm39)	missense	probably benign
Z1177:Lipi	UTSW	16	75,347,175 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGTCCTAAGTATCCCTCAAGTC -3'
(R):5'- AAAAGTGCCCTCTGGGTTCTG -3'

Sequencing Primer
(F):5'- CCAACATTTGTGCCCATA -3'
(R):5'- TGGGTTCTGCCTCATTATTACTATAC -3'

Posted On

2019-10-24