Mutagenetix > Incidental Mutation

Incidental Mutation 'R1971:Lpin1'

220943

Institutional Source

Beutler Lab

Gene Symbol

Lpin1

Ensembl Gene

ENSMUSG00000020593

Gene Name

lipin 1

Synonyms

Lipin1

MMRRC Submission

039984-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

R1971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16585670-16696967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16630724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 58 (L58H)

Ref Sequence

ENSEMBL: ENSMUSP00000152276 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067124
AA Change: L58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: L58H

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

probably damaging
Transcript: ENSMUST00000111067
AA Change: L58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: L58H

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 damaging
Transcript: ENSMUST00000221146
AA Change: L58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221230
AA Change: L58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221297
AA Change: L58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222989
AA Change: L58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (115/116)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,686,566 (GRCm39)	I242N	probably benign	Het
2510009E07Rik	G	T	16: 21,472,048 (GRCm39)	Y217*	probably null	Het
4931429L15Rik	C	T	9: 46,220,086 (GRCm39)	V149M	probably benign	Het
Abcg8	G	T	17: 85,002,587 (GRCm39)		probably benign	Het
Acox1	A	G	11: 116,089,087 (GRCm39)	F77S	probably benign	Het
Adgrb3	G	T	1: 25,586,525 (GRCm39)	H389Q	probably benign	Het
Ak7	A	G	12: 105,692,504 (GRCm39)	N186S	probably damaging	Het
Apobr	A	G	7: 126,185,397 (GRCm39)	T303A	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bcl9l	T	C	9: 44,419,996 (GRCm39)		probably null	Het
Bco2	T	C	9: 50,457,284 (GRCm39)	D86G	probably damaging	Het
Bmpr1b	T	A	3: 141,563,333 (GRCm39)	I204F	probably damaging	Het
Bpifb5	C	A	2: 154,072,264 (GRCm39)	Q324K	probably benign	Het
Cacna2d2	G	A	9: 107,389,205 (GRCm39)	V223I	probably damaging	Het
Capn3	A	G	2: 120,311,228 (GRCm39)	D105G	possibly damaging	Het
Ccdc40	G	T	11: 119,153,901 (GRCm39)		probably null	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Ckap2l	A	G	2: 129,127,342 (GRCm39)	S279P	possibly damaging	Het
Cldn12	C	A	5: 5,558,137 (GRCm39)	A97S	probably benign	Het
Clec2l	T	G	6: 38,640,309 (GRCm39)	S47A	probably benign	Het
Csnk1d	C	A	11: 120,863,274 (GRCm39)	R222M	possibly damaging	Het
Ctnna1	T	A	18: 35,287,580 (GRCm39)	D96E	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Drd2	T	C	9: 49,318,359 (GRCm39)	F434L	probably damaging	Het
En1	A	G	1: 120,534,742 (GRCm39)	T344A	unknown	Het
Eri3	A	G	4: 117,421,964 (GRCm39)	T81A	probably benign	Het
Fam20a	T	C	11: 109,576,237 (GRCm39)	Y174C	probably damaging	Het
Fam234a	G	C	17: 26,435,629 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,631,294 (GRCm39)	I217N	probably damaging	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fcgbpl1	C	A	7: 27,830,937 (GRCm39)	A50E	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gm136	T	G	4: 34,755,986 (GRCm39)	D9A	probably benign	Het
Gstt2	G	T	10: 75,668,499 (GRCm39)	T116N	probably benign	Het
Hs3st6	A	G	17: 24,972,267 (GRCm39)	T70A	probably benign	Het
Hspa14	A	G	2: 3,490,804 (GRCm39)	V461A	possibly damaging	Het
Itih5	A	T	2: 10,243,379 (GRCm39)	D372V	probably damaging	Het
Kcna2	A	T	3: 107,012,140 (GRCm39)	R240S	probably damaging	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lap3	T	C	5: 45,663,508 (GRCm39)		probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Map4k5	G	T	12: 69,873,102 (GRCm39)	P468Q	possibly damaging	Het
Med31	G	A	11: 72,106,244 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,315,688 (GRCm39)		probably null	Het
Mrc1	G	A	2: 14,249,103 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,359,784 (GRCm39)	I16T	probably damaging	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Mst1r	A	T	9: 107,790,411 (GRCm39)	I675F	probably benign	Het
Myb	A	C	10: 21,016,555 (GRCm39)	S652A	probably benign	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Myl6b	A	G	10: 128,330,512 (GRCm39)	V181A	probably damaging	Het
Myt1l	A	T	12: 29,877,091 (GRCm39)	K247N	unknown	Het
Nanos2	G	T	7: 18,721,629 (GRCm39)	V34L	probably benign	Het
Nav1	T	C	1: 135,460,091 (GRCm39)	T411A	probably benign	Het
Nedd9	T	A	13: 41,492,424 (GRCm39)	I23F	probably damaging	Het
Nes	G	A	3: 87,885,634 (GRCm39)	V1254I	possibly damaging	Het
Nol6	A	G	4: 41,119,542 (GRCm39)	F588S	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Olr1	T	C	6: 129,470,498 (GRCm39)	E223G	probably benign	Het
Or1e30	T	A	11: 73,678,616 (GRCm39)	M284K	probably damaging	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or4c118	A	T	2: 88,975,078 (GRCm39)	C96*	probably null	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or51l4	C	T	7: 103,404,527 (GRCm39)	W88*	probably null	Het
Pate6	T	A	9: 35,700,309 (GRCm39)	H92L	probably benign	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pik3cg	A	T	12: 32,242,152 (GRCm39)	V986D	probably damaging	Het
Pitpnm1	T	A	19: 4,162,450 (GRCm39)	D1093E	probably damaging	Het
Ppp1r12b	T	C	1: 134,793,651 (GRCm39)	D571G	probably benign	Het
Rfx1	A	G	8: 84,822,126 (GRCm39)	E875G	probably damaging	Het
Rnf145	T	A	11: 44,439,642 (GRCm39)	I146N	probably damaging	Het
Rttn	G	A	18: 89,108,557 (GRCm39)	R1587H	probably benign	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Sdhb	A	G	4: 140,700,260 (GRCm39)	D120G	possibly damaging	Het
Serpine3	A	G	14: 62,902,533 (GRCm39)	N48S	probably damaging	Het
Sgms1	T	A	19: 32,137,357 (GRCm39)	I70L	probably benign	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Smtnl2	C	T	11: 72,302,183 (GRCm39)	A93T	probably benign	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Taf6l	A	G	19: 8,752,866 (GRCm39)		probably null	Het
Tbc1d10b	A	T	7: 126,807,036 (GRCm39)	V167E	probably benign	Het
Tbc1d9	G	A	8: 83,976,139 (GRCm39)	R566H	probably damaging	Het
Tenm3	A	G	8: 48,689,348 (GRCm39)	Y2080H	probably damaging	Het
Tex14	A	G	11: 87,402,431 (GRCm39)	N506S	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tjp1	G	T	7: 64,973,826 (GRCm39)	T476K	probably damaging	Het
Tlr11	A	T	14: 50,598,691 (GRCm39)	T226S	probably benign	Het
Tmem131	G	A	1: 36,843,680 (GRCm39)	Q1394*	probably null	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Tmem219	T	C	7: 126,496,422 (GRCm39)	S13G	probably benign	Het
Trp53bp1	T	C	2: 121,035,517 (GRCm39)	Y47C	probably damaging	Het
Ttn	T	A	2: 76,731,922 (GRCm39)		probably benign	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Usp37	A	T	1: 74,479,127 (GRCm39)	Y948*	probably null	Het
Vav1	A	T	17: 57,634,697 (GRCm39)	Y805F	probably damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r2	T	A	3: 64,034,121 (GRCm39)	Y467F	probably damaging	Het
Vps35l	A	C	7: 118,374,557 (GRCm39)	R352S	probably damaging	Het
Vps54	C	A	11: 21,242,051 (GRCm39)	L389I	probably damaging	Het
Vwa8	G	T	14: 79,162,694 (GRCm39)		probably benign	Het
Wdr19	G	T	5: 65,398,503 (GRCm39)		probably benign	Het
Wnt2b	A	T	3: 104,861,933 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,342,039 (GRCm39)	R1427G	possibly damaging	Het
Ylpm1	T	C	12: 85,087,560 (GRCm39)	S1115P	probably damaging	Het
Zfp946	T	A	17: 22,674,406 (GRCm39)	C387S	probably damaging	Het

Other mutations in Lpin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Lpin1	APN	12	16,603,993 (GRCm39)	missense	probably benign	0.00
IGL00929:Lpin1	APN	12	16,623,700 (GRCm39)	missense	probably benign	0.05
IGL01485:Lpin1	APN	12	16,612,358 (GRCm39)	splice site	probably benign
IGL01750:Lpin1	APN	12	16,627,177 (GRCm39)	missense	probably benign	0.00
IGL01774:Lpin1	APN	12	16,608,477 (GRCm39)	missense	probably damaging	0.96
IGL02197:Lpin1	APN	12	16,608,408 (GRCm39)	critical splice donor site	probably null
IGL02244:Lpin1	APN	12	16,591,770 (GRCm39)	missense	probably damaging	0.99
IGL02272:Lpin1	APN	12	16,597,601 (GRCm39)	missense	probably damaging	1.00
IGL03366:Lpin1	APN	12	16,594,678 (GRCm39)	missense	probably damaging	1.00
lipin	UTSW	12	16,597,500 (GRCm39)	missense	probably damaging	1.00
R0044:Lpin1	UTSW	12	16,618,530 (GRCm39)	splice site	probably benign
R0106:Lpin1	UTSW	12	16,590,980 (GRCm39)	missense	possibly damaging	0.88
R0106:Lpin1	UTSW	12	16,590,980 (GRCm39)	missense	possibly damaging	0.88
R0676:Lpin1	UTSW	12	16,590,980 (GRCm39)	missense	possibly damaging	0.88
R1119:Lpin1	UTSW	12	16,613,722 (GRCm39)	missense	probably damaging	1.00
R1570:Lpin1	UTSW	12	16,610,999 (GRCm39)	missense	possibly damaging	0.94
R1611:Lpin1	UTSW	12	16,627,219 (GRCm39)	missense	probably null	0.64
R1646:Lpin1	UTSW	12	16,623,659 (GRCm39)	critical splice donor site	probably null
R1756:Lpin1	UTSW	12	16,588,541 (GRCm39)	missense	probably damaging	0.99
R1870:Lpin1	UTSW	12	16,591,744 (GRCm39)	missense	probably damaging	1.00
R1912:Lpin1	UTSW	12	16,596,728 (GRCm39)	missense	probably damaging	0.96
R2484:Lpin1	UTSW	12	16,597,500 (GRCm39)	missense	probably damaging	1.00
R2901:Lpin1	UTSW	12	16,603,999 (GRCm39)	missense	probably benign
R3195:Lpin1	UTSW	12	16,615,584 (GRCm39)	missense	possibly damaging	0.91
R3779:Lpin1	UTSW	12	16,614,569 (GRCm39)	missense	probably damaging	0.96
R3918:Lpin1	UTSW	12	16,621,190 (GRCm39)	missense	probably benign	0.00
R4532:Lpin1	UTSW	12	16,603,963 (GRCm39)	missense	probably benign	0.01
R4857:Lpin1	UTSW	12	16,613,631 (GRCm39)	missense	possibly damaging	0.86
R4882:Lpin1	UTSW	12	16,588,537 (GRCm39)	missense	probably damaging	1.00
R5024:Lpin1	UTSW	12	16,604,007 (GRCm39)	missense	probably benign	0.38
R5084:Lpin1	UTSW	12	16,626,983 (GRCm39)	missense	probably damaging	1.00
R5108:Lpin1	UTSW	12	16,623,716 (GRCm39)	missense	probably benign	0.39
R5191:Lpin1	UTSW	12	16,630,829 (GRCm39)	missense	possibly damaging	0.95
R5377:Lpin1	UTSW	12	16,613,656 (GRCm39)	missense	probably damaging	1.00
R5587:Lpin1	UTSW	12	16,623,715 (GRCm39)	missense
R5659:Lpin1	UTSW	12	16,590,990 (GRCm39)	missense	probably damaging	1.00
R5924:Lpin1	UTSW	12	16,594,658 (GRCm39)	missense	possibly damaging	0.91
R6391:Lpin1	UTSW	12	16,614,554 (GRCm39)	missense	probably benign	0.29
R6746:Lpin1	UTSW	12	16,615,529 (GRCm39)	missense	probably benign
R6799:Lpin1	UTSW	12	16,611,045 (GRCm39)	missense	probably damaging	1.00
R6969:Lpin1	UTSW	12	16,630,862 (GRCm39)	missense	probably damaging	0.99
R7557:Lpin1	UTSW	12	16,630,793 (GRCm39)	missense
R7884:Lpin1	UTSW	12	16,612,370 (GRCm39)	missense
R8049:Lpin1	UTSW	12	16,613,685 (GRCm39)	missense
R8130:Lpin1	UTSW	12	16,629,965 (GRCm39)	missense
R8190:Lpin1	UTSW	12	16,599,003 (GRCm39)	missense
R8434:Lpin1	UTSW	12	16,613,621 (GRCm39)	critical splice donor site	probably null
R8691:Lpin1	UTSW	12	16,623,660 (GRCm39)	critical splice donor site	probably benign
R9077:Lpin1	UTSW	12	16,591,747 (GRCm39)	missense
R9085:Lpin1	UTSW	12	16,623,715 (GRCm39)	missense
R9209:Lpin1	UTSW	12	16,588,548 (GRCm39)	missense
R9227:Lpin1	UTSW	12	16,588,483 (GRCm39)	missense	unknown
R9230:Lpin1	UTSW	12	16,588,483 (GRCm39)	missense	unknown
R9799:Lpin1	UTSW	12	16,612,400 (GRCm39)	missense
Z1177:Lpin1	UTSW	12	16,629,948 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCTGAGCCTCATCCTTGATAAG -3'
(R):5'- CAGACAATGAATTACGTGGGGC -3'

Sequencing Primer
(F):5'- GCCTCATCCTTGATAAGCAGTAGG -3'
(R):5'- CAATGAATTACGTGGGGCAGCTG -3'

Posted On

2014-08-25