Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Lpin1'

438839

Institutional Source

Beutler Lab

Gene Symbol

Lpin1

Ensembl Gene

ENSMUSG00000020593

Gene Name

lipin 1

Synonyms

Lipin1

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16535669-16610966 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16573714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 223 (Y223C)

Ref Sequence

ENSEMBL: ENSMUSP00000152285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067124] [ENSMUST00000111067] [ENSMUST00000221146] [ENSMUST00000221230] [ENSMUST00000221297] [ENSMUST00000222989]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: Y223C

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	110	1.1e-48	PFAM
low complexity region	153	161	N/A	INTRINSIC
low complexity region	230	242	N/A	INTRINSIC
Pfam:Lipin_mid	498	591	9.4e-36	PFAM
low complexity region	630	642	N/A	INTRINSIC
LNS2	708	864	3.42e-100	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: Y223C

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	2.2e-53	PFAM
low complexity region	153	161	N/A	INTRINSIC
low complexity region	237	252	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC
LNS2	675	831	3.42e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221146

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221230
AA Change: Y223C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222989
AA Change: Y223C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
PHENOTYPE: ENU-induced mutants show transient hindlimb paralysis, demyelination and myelin sheath defects. Spontaneous mutants show neonatal fatty liver and hypertriglyceridemia, runting, male sterility, peripheral neuropathy, and altered hair growth, myelination, adipogenesis and lipid and glucose metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,409 (GRCm38)	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084 (GRCm38)	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767 (GRCm38)	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360 (GRCm38)	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476 (GRCm38)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247 (GRCm38)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210 (GRCm38)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412 (GRCm38)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634 (GRCm38)	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646 (GRCm38)	V74E	possibly damaging	Het
Ccdc78	C	A	17: 25,786,677 (GRCm38)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484 (GRCm38)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738 (GRCm38)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm38)	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514 (GRCm38)		probably null	Het
Cwf19l1	G	A	19: 44,120,877 (GRCm38)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203 (GRCm38)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913 (GRCm38)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242 (GRCm38)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267 (GRCm38)	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951 (GRCm38)	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148 (GRCm38)	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207 (GRCm38)	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075 (GRCm38)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122 (GRCm38)		probably benign	Het
Hepacam	A	G	9: 37,384,684 (GRCm38)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550 (GRCm38)	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308 (GRCm38)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220 (GRCm38)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593 (GRCm38)	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679 (GRCm38)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530 (GRCm38)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342 (GRCm38)	M702K	probably benign	Het
Lrit3	G	T	3: 129,788,898 (GRCm38)	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263 (GRCm38)	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970 (GRCm38)	V271G	probably benign	Het
Nktr	C	T	9: 121,748,489 (GRCm38)		probably benign	Het
Olfr1342	T	A	4: 118,689,870 (GRCm38)	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576 (GRCm38)	R261H	probably damaging	Het
Olfr347	A	T	2: 36,734,621 (GRCm38)	Q100L	probably damaging	Het
Olfr617	T	A	7: 103,584,531 (GRCm38)	Y170N	probably benign	Het
Olfr979	A	T	9: 40,000,621 (GRCm38)	I202N	possibly damaging	Het
Olfr984	A	T	9: 40,101,244 (GRCm38)	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822 (GRCm38)	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873 (GRCm38)	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832 (GRCm38)	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265 (GRCm38)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555 (GRCm38)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859 (GRCm38)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473 (GRCm38)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619 (GRCm38)		probably benign	Het
Rsf1	T	C	7: 97,662,121 (GRCm38)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm38)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081 (GRCm38)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427 (GRCm38)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851 (GRCm38)		probably null	Het
Sis	A	G	3: 72,914,576 (GRCm38)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618 (GRCm38)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801 (GRCm38)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm38)	H345R	unknown	Het
Suox	A	T	10: 128,671,825 (GRCm38)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828 (GRCm38)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762 (GRCm38)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421 (GRCm38)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566 (GRCm38)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992 (GRCm38)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271 (GRCm38)	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596 (GRCm38)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704 (GRCm38)		probably benign	Het
Tshz2	A	T	2: 169,884,342 (GRCm38)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659 (GRCm38)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138 (GRCm38)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076 (GRCm38)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487 (GRCm38)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561 (GRCm38)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235 (GRCm38)	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762 (GRCm38)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858 (GRCm38)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321 (GRCm38)	K487R	possibly damaging	Het

Other mutations in Lpin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Lpin1	APN	12	16,553,992 (GRCm38)	missense	probably benign	0.00
IGL00929:Lpin1	APN	12	16,573,699 (GRCm38)	missense	probably benign	0.05
IGL01485:Lpin1	APN	12	16,562,357 (GRCm38)	splice site	probably benign
IGL01750:Lpin1	APN	12	16,577,176 (GRCm38)	missense	probably benign	0.00
IGL01774:Lpin1	APN	12	16,558,476 (GRCm38)	missense	probably damaging	0.96
IGL02197:Lpin1	APN	12	16,558,407 (GRCm38)	critical splice donor site	probably null
IGL02244:Lpin1	APN	12	16,541,769 (GRCm38)	missense	probably damaging	0.99
IGL02272:Lpin1	APN	12	16,547,600 (GRCm38)	missense	probably damaging	1.00
IGL03366:Lpin1	APN	12	16,544,677 (GRCm38)	missense	probably damaging	1.00
lipin	UTSW	12	16,547,499 (GRCm38)	missense	probably damaging	1.00
R0044:Lpin1	UTSW	12	16,568,529 (GRCm38)	splice site	probably benign
R0106:Lpin1	UTSW	12	16,540,979 (GRCm38)	missense	possibly damaging	0.88
R0106:Lpin1	UTSW	12	16,540,979 (GRCm38)	missense	possibly damaging	0.88
R0676:Lpin1	UTSW	12	16,540,979 (GRCm38)	missense	possibly damaging	0.88
R1119:Lpin1	UTSW	12	16,563,721 (GRCm38)	missense	probably damaging	1.00
R1570:Lpin1	UTSW	12	16,560,998 (GRCm38)	missense	possibly damaging	0.94
R1611:Lpin1	UTSW	12	16,577,218 (GRCm38)	missense	probably null	0.64
R1646:Lpin1	UTSW	12	16,573,658 (GRCm38)	critical splice donor site	probably null
R1756:Lpin1	UTSW	12	16,538,540 (GRCm38)	missense	probably damaging	0.99
R1870:Lpin1	UTSW	12	16,541,743 (GRCm38)	missense	probably damaging	1.00
R1912:Lpin1	UTSW	12	16,546,727 (GRCm38)	missense	probably damaging	0.96
R1971:Lpin1	UTSW	12	16,580,723 (GRCm38)	missense	probably damaging	1.00
R2484:Lpin1	UTSW	12	16,547,499 (GRCm38)	missense	probably damaging	1.00
R2901:Lpin1	UTSW	12	16,553,998 (GRCm38)	missense	probably benign
R3195:Lpin1	UTSW	12	16,565,583 (GRCm38)	missense	possibly damaging	0.91
R3779:Lpin1	UTSW	12	16,564,568 (GRCm38)	missense	probably damaging	0.96
R3918:Lpin1	UTSW	12	16,571,189 (GRCm38)	missense	probably benign	0.00
R4532:Lpin1	UTSW	12	16,553,962 (GRCm38)	missense	probably benign	0.01
R4857:Lpin1	UTSW	12	16,563,630 (GRCm38)	missense	possibly damaging	0.86
R4882:Lpin1	UTSW	12	16,538,536 (GRCm38)	missense	probably damaging	1.00
R5024:Lpin1	UTSW	12	16,554,006 (GRCm38)	missense	probably benign	0.38
R5084:Lpin1	UTSW	12	16,576,982 (GRCm38)	missense	probably damaging	1.00
R5108:Lpin1	UTSW	12	16,573,715 (GRCm38)	missense	probably benign	0.39
R5191:Lpin1	UTSW	12	16,580,828 (GRCm38)	missense	possibly damaging	0.95
R5377:Lpin1	UTSW	12	16,563,655 (GRCm38)	missense	probably damaging	1.00
R5659:Lpin1	UTSW	12	16,540,989 (GRCm38)	missense	probably damaging	1.00
R5924:Lpin1	UTSW	12	16,544,657 (GRCm38)	missense	possibly damaging	0.91
R6391:Lpin1	UTSW	12	16,564,553 (GRCm38)	missense	probably benign	0.29
R6746:Lpin1	UTSW	12	16,565,528 (GRCm38)	missense	probably benign
R6799:Lpin1	UTSW	12	16,561,044 (GRCm38)	missense	probably damaging	1.00
R6969:Lpin1	UTSW	12	16,580,861 (GRCm38)	missense	probably damaging	0.99
R7557:Lpin1	UTSW	12	16,580,792 (GRCm38)	missense
R7884:Lpin1	UTSW	12	16,562,369 (GRCm38)	missense
R8049:Lpin1	UTSW	12	16,563,684 (GRCm38)	missense
R8130:Lpin1	UTSW	12	16,579,964 (GRCm38)	missense
R8190:Lpin1	UTSW	12	16,549,002 (GRCm38)	missense
R8434:Lpin1	UTSW	12	16,563,620 (GRCm38)	critical splice donor site	probably null
R8691:Lpin1	UTSW	12	16,573,659 (GRCm38)	critical splice donor site	probably benign
R9077:Lpin1	UTSW	12	16,541,746 (GRCm38)	missense
R9085:Lpin1	UTSW	12	16,573,714 (GRCm38)	missense
R9209:Lpin1	UTSW	12	16,538,547 (GRCm38)	missense
R9227:Lpin1	UTSW	12	16,538,482 (GRCm38)	missense	unknown
R9230:Lpin1	UTSW	12	16,538,482 (GRCm38)	missense	unknown
R9799:Lpin1	UTSW	12	16,562,399 (GRCm38)	missense
Z1177:Lpin1	UTSW	12	16,579,947 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- CAATTCAGCGCAGGTCTGAG -3'
(R):5'- AGGACATGCTAATTAGTGAGGTCC -3'

Sequencing Primer
(F):5'- CGCAGGTCTGAGATTCATTTGCC -3'
(R):5'- ATTAGTGAGGTCCTTAGATGTAAGC -3'

Posted On

2016-10-26