Mutagenetix > Incidental Mutation

Incidental Mutation 'R9112:Lipi'

692333

Institutional Source

Beutler Lab

Gene Symbol

Lipi

Ensembl Gene

ENSMUSG00000032948

Gene Name

lipase, member I

Synonyms

D930038D03Rik, lpd1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75337402-75382949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75359159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 259 (F259S)

Ref Sequence

ENSEMBL: ENSMUSP00000053447 (fasta)

Gene Model

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

AlphaFold

F6YQT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062721
AA Change: F259S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

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

Validation Efficiency

100% (56/56)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,100,806 (GRCm39)	S181G	possibly damaging	Het
5730596B20Rik	A	G	6: 52,156,413 (GRCm39)	R160G	unknown	Het
Acy1	A	G	9: 106,311,952 (GRCm39)	Y262H	probably benign	Het
Adamts13	T	C	2: 26,880,379 (GRCm39)	S681P	possibly damaging	Het
Adgra3	C	A	5: 50,118,395 (GRCm39)	C1051F	probably damaging	Het
Afp	T	C	5: 90,652,289 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,261,514 (GRCm39)	V568E	probably damaging	Het
Ahnak	A	G	19: 8,987,149 (GRCm39)	E2811G	probably damaging	Het
Ap1m1	C	A	8: 72,994,066 (GRCm39)	Y7*	probably null	Het
Apobec1	T	A	6: 122,555,837 (GRCm39)	T207S	probably benign	Het
Arhgap32	G	A	9: 32,157,309 (GRCm39)	R102Q	probably damaging	Het
Bcat2	T	C	7: 45,237,446 (GRCm39)		probably null	Het
Cd209f	T	A	8: 4,155,802 (GRCm39)		probably benign	Het
Cox7c	G	A	13: 86,194,837 (GRCm39)		probably benign	Het
Cyp2d11	A	G	15: 82,276,203 (GRCm39)	V156A	possibly damaging	Het
Dhrs3	A	T	4: 144,653,769 (GRCm39)	T297S	probably benign	Het
Dip2c	T	C	13: 9,660,766 (GRCm39)	C876R	probably damaging	Het
Eprs1	A	T	1: 185,129,273 (GRCm39)	I587F	probably damaging	Het
Fam13c	A	G	10: 70,286,978 (GRCm39)	T81A	probably benign	Het
Flt4	A	G	11: 49,524,064 (GRCm39)	Y548C	probably damaging	Het
Garin2	T	C	12: 78,757,202 (GRCm39)		probably null	Het
Gimap4	T	A	6: 48,667,629 (GRCm39)	V128E	probably benign	Het
Gm32742	A	G	9: 51,060,735 (GRCm39)	L856P	possibly damaging	Het
Gm5916	A	G	9: 36,032,258 (GRCm39)	Y59H	probably damaging	Het
Gnai3	A	T	3: 108,030,990 (GRCm39)	H57Q		Het
Golga3	G	T	5: 110,333,757 (GRCm39)	R131L	probably benign	Het
Gpc6	A	T	14: 117,424,088 (GRCm39)	I59F	probably benign	Het
H2bc6	T	C	13: 23,769,753 (GRCm39)	M63V	possibly damaging	Het
Herc6	T	C	6: 57,596,604 (GRCm39)	S515P	probably damaging	Het
Ift74	T	C	4: 94,575,103 (GRCm39)	I518T	probably benign	Het
Kat6b	T	C	14: 21,675,256 (GRCm39)	S474P	possibly damaging	Het
Klhl3	A	C	13: 58,248,212 (GRCm39)	I28S	unknown	Het
Klrh1	T	A	6: 129,743,697 (GRCm39)	I196F	probably benign	Het
Lrrc8a	T	A	2: 30,145,782 (GRCm39)	S199T	probably damaging	Het
Map2	T	A	1: 66,472,723 (GRCm39)	C1709*	probably null	Het
Mrgprf	A	G	7: 144,861,503 (GRCm39)	S22G	probably benign	Het
Myo1e	G	T	9: 70,274,983 (GRCm39)	R712L	probably benign	Het
Nras	A	T	3: 102,967,658 (GRCm39)	N85Y	probably benign	Het
Or4a71	C	T	2: 89,358,337 (GRCm39)	C139Y	probably damaging	Het
Or5b3	A	T	19: 13,388,475 (GRCm39)	I181F	probably benign	Het
Or6ae1	A	G	7: 139,742,660 (GRCm39)	S68P		Het
Or9q2	T	C	19: 13,772,780 (GRCm39)	H65R	probably damaging	Het
Pcp2	T	A	8: 3,674,638 (GRCm39)		probably benign	Het
Pigv	T	C	4: 133,392,079 (GRCm39)	R364G	probably benign	Het
Plekhh3	T	A	11: 101,061,625 (GRCm39)	S30C	probably damaging	Het
Poglut3	A	G	9: 53,295,530 (GRCm39)	Y44C	probably damaging	Het
Pramel11	A	C	4: 143,623,334 (GRCm39)	V280G	possibly damaging	Het
Pramel51	C	T	12: 88,144,055 (GRCm39)	A261T	possibly damaging	Het
Rhof	T	C	5: 123,258,571 (GRCm39)		probably benign	Het
Rufy3	A	T	5: 88,780,336 (GRCm39)	E361D		Het
Serpina1b	T	C	12: 103,698,699 (GRCm39)	D50G	probably benign	Het
Sgsm2	G	A	11: 74,756,222 (GRCm39)	Q376*	probably null	Het
Slc18b1	A	T	10: 23,692,262 (GRCm39)	I246F	probably damaging	Het
Slc38a9	A	T	13: 112,850,777 (GRCm39)	N387I	probably damaging	Het
Synrg	C	G	11: 83,862,409 (GRCm39)	P35A	probably damaging	Het
Tdrp	T	C	8: 14,005,796 (GRCm39)	K42E	probably damaging	Het
Trappc10	A	C	10: 78,029,201 (GRCm39)	M1112R	probably damaging	Het
Ube2e1	A	G	14: 18,285,203 (GRCm38)	V90A	probably damaging	Het
Vwde	C	A	6: 13,205,051 (GRCm39)	V277F	possibly damaging	Het
Zfyve16	A	G	13: 92,659,563 (GRCm39)	M116T	possibly damaging	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
R7587:Lipi	UTSW	16	75,347,103 (GRCm39)	missense	probably benign	0.00
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
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'- GTTTCACCCATGACTAGTTGTTG -3'
(R):5'- GACCAAGGTTAATGGATTTTAGCAG -3'

Sequencing Primer
(F):5'- CACCCATGACTAGTTGTTGTATATGC -3'
(R):5'- CAGTGCTTTCTTCCTAGGTT -3'

Posted On

2021-12-30