Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Lipi'

698073

Institutional Source

Beutler Lab

Gene Symbol

Lipi

Ensembl Gene

ENSMUSG00000032948

Gene Name

lipase, member I

Synonyms

lpd1, D930038D03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75540514-75586061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75565573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 217 (T217S)

Ref Sequence

ENSEMBL: ENSMUSP00000053447 (fasta)

AlphaFold

F6YQT7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062721
AA Change: T217S

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts9	A	T	6: 92,860,189	S1164T	probably benign	Het
Bcat1	A	T	6: 145,039,496	I140N	probably damaging	Het
Bod1l	T	C	5: 41,799,786	T2832A	probably benign	Het
Brca2	A	T	5: 150,536,512	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,853,900	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cenpf	G	T	1: 189,656,790	T1615K	probably damaging	Het
Cep250	T	C	2: 155,988,434		probably null	Het
Clec4d	T	C	6: 123,274,798	F213S	probably damaging	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Csmd1	G	A	8: 15,912,430	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,539,798	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,698,342	T81A	probably damaging	Het
Dld	A	G	12: 31,340,886	V187A	probably benign	Het
Dmrt2	T	A	19: 25,678,113	Y359N	probably benign	Het
Dnah9	T	C	11: 65,955,744	N2914S	probably benign	Het
Dpyd	A	T	3: 118,759,654		probably null	Het
Fgl2	A	C	5: 21,372,922	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 84,834,151	I132F	probably damaging	Het
Gm15446	T	C	5: 109,942,877	C332R	probably damaging	Het
Gm15737	A	T	6: 92,879,659	E23V	unknown	Het
Gm5111	A	G	6: 48,590,103	H84R	unknown	Het
Golga3	G	A	5: 110,207,753	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,368,027	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,129,877	H740Y	probably benign	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Ints7	T	A	1: 191,619,760	S860R	probably benign	Het
Lrrc2	G	T	9: 110,962,654	C158F	probably benign	Het
Lrrc30	T	C	17: 67,631,859	D242G	probably benign	Het
Map1a	A	T	2: 121,303,373	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,778	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,362,710	L345P	probably damaging	Het
Mmp24	A	G	2: 155,798,121	R124G	probably benign	Het
Ngef	T	A	1: 87,479,075	H240L	unknown	Het
Nmur1	T	G	1: 86,387,534	D203A	probably benign	Het
Nt5c3	T	C	6: 56,882,970	Q328R	probably benign	Het
Ogfr	T	C	2: 180,591,057		probably null	Het
Olfr187	A	G	16: 59,035,900	V279A	probably benign	Het
Olfr655	T	A	7: 104,596,428	Y251F	probably damaging	Het
Olfr728	A	T	14: 50,140,533	Y35*	probably null	Het
Osbpl10	G	A	9: 115,232,143	W588*	probably null	Het
Pask	A	T	1: 93,337,483	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,486,273	R170K	probably damaging	Het
Plec	A	G	15: 76,185,737	C960R	unknown	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Rfx7	T	C	9: 72,616,881	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,806,488	E76V	probably damaging	Het
Rock2	A	G	12: 16,965,556	N818S	probably benign	Het
Ryk	A	T	9: 102,881,655	I248F	possibly damaging	Het
Setd2	A	G	9: 110,549,100	Q661R	possibly damaging	Het
Siae	T	C	9: 37,627,809	V172A	probably benign	Het
Slc35f4	A	G	14: 49,318,920	S9P	unknown	Het
Smg1	T	C	7: 118,195,956	E456G	unknown	Het
Srgap3	C	T	6: 112,766,904	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,054,639	R564S	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Usp15	A	G	10: 123,168,238	Y204H	probably damaging	Het
Usp35	A	G	7: 97,313,069	Y527H	probably damaging	Het
Usp8	T	A	2: 126,758,604	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,869,779	M545K	probably benign	Het
Ylpm1	A	T	12: 85,033,915		probably null	Het
Zscan22	G	T	7: 12,907,203	R458L	probably damaging	Het

Other mutations in Lipi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Lipi	APN	16	75550366	splice site	probably benign
IGL01863:Lipi	APN	16	75550226	missense	probably damaging	1.00
R1690:Lipi	UTSW	16	75541125	missense	probably damaging	1.00
R2045:Lipi	UTSW	16	75550199	missense	probably damaging	0.98
R4001:Lipi	UTSW	16	75573871	nonsense	probably null
R4387:Lipi	UTSW	16	75573955	missense	probably damaging	1.00
R4613:Lipi	UTSW	16	75560801	missense	probably benign	0.01
R4680:Lipi	UTSW	16	75565529	critical splice donor site	probably null
R5420:Lipi	UTSW	16	75555869	missense	possibly damaging	0.82
R5503:Lipi	UTSW	16	75573976	missense	probably benign	0.11
R5773:Lipi	UTSW	16	75573925	missense	probably damaging	1.00
R5813:Lipi	UTSW	16	75573910	missense	possibly damaging	0.91
R6312:Lipi	UTSW	16	75573915	missense	probably damaging	1.00
R6559:Lipi	UTSW	16	75541094	missense	probably benign	0.31
R7587:Lipi	UTSW	16	75550215	missense	probably benign	0.00
R7639:Lipi	UTSW	16	75560855	missense	probably benign	0.03
R8079:Lipi	UTSW	16	75565530	critical splice donor site	probably null
R8256:Lipi	UTSW	16	75574062	missense	probably benign	0.00
R8475:Lipi	UTSW	16	75573974	missense	probably benign	0.00
R8855:Lipi	UTSW	16	75558593	missense	probably damaging	1.00
R8888:Lipi	UTSW	16	75555822	missense	probably benign	0.05
R8895:Lipi	UTSW	16	75555822	missense	probably benign	0.05
R9112:Lipi	UTSW	16	75562271	missense	probably damaging	1.00
R9182:Lipi	UTSW	16	75560785	nonsense	probably null
X0017:Lipi	UTSW	16	75550355	missense	probably benign	0.00
X0019:Lipi	UTSW	16	75555815	missense	probably benign
Z1177:Lipi	UTSW	16	75550287	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGTAAAGTCAGTGACTGCCCAC -3'
(R):5'- AATGCCTTTGAAGGGTGCTG -3'

Sequencing Primer
(F):5'- ACAGAATGGAGAATTAAATCCCAAAC -3'
(R):5'- CCTTTGAAGGGTGCTGATAAATATTC -3'

Posted On

2022-02-07