Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Lpin1'

391252

Institutional Source

Beutler Lab

Gene Symbol

Lpin1

Ensembl Gene

ENSMUSG00000020593

Gene Name

lipin 1

Synonyms

Lipin1

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

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

Stock #

R5024 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

16585670-16696967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16604007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 608 (L608Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152285 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067124
AA Change: L608Q

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: L608Q

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 benign
Transcript: ENSMUST00000111067
AA Change: L608Q

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: L608Q

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: ENSMUST00000221230
AA Change: L575Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000221297
AA Change: L608Q

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221789

Predicted Effect

probably benign
Transcript: ENSMUST00000222989
AA Change: L575Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,248,959 (GRCm39)	N575S	probably damaging	Het
Akap6	C	T	12: 53,189,345 (GRCm39)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,639,511 (GRCm39)	N289K	probably damaging	Het
Atad2b	A	C	12: 4,987,534 (GRCm39)	T121P	probably benign	Het
Atp4a	A	C	7: 30,415,289 (GRCm39)	D303A	possibly damaging	Het
Calu	A	T	6: 29,374,518 (GRCm39)		probably benign	Het
Ccdc141	A	C	2: 76,885,047 (GRCm39)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,604,612 (GRCm39)		probably null	Het
Cd207	G	A	6: 83,651,301 (GRCm39)	T218I	probably damaging	Het
Cd2ap	A	C	17: 43,116,236 (GRCm39)		probably null	Het
Ceacam23	A	G	7: 17,644,607 (GRCm39)	I575V	probably benign	Het
Clip3	G	A	7: 29,991,644 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,751 (GRCm39)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,215,141 (GRCm39)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,955,070 (GRCm39)	E2033V	probably damaging	Het
Eng	T	G	2: 32,563,404 (GRCm39)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm39)	W57*	probably null	Het
Etv1	T	A	12: 38,904,233 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam221b	T	A	4: 43,659,674 (GRCm39)	N482I	probably damaging	Het
Fam83h	T	C	15: 75,876,991 (GRCm39)	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,008,403 (GRCm39)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,492,442 (GRCm39)		probably null	Het
Frmd3	T	A	4: 74,016,381 (GRCm39)	S99T	probably benign	Het
Gm5174	G	T	10: 86,492,451 (GRCm39)		noncoding transcript	Het
Gm815	C	T	19: 26,865,175 (GRCm39)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,357,461 (GRCm39)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,463,661 (GRCm39)		probably null	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,556,439 (GRCm39)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,681,657 (GRCm39)	H33N	probably benign	Het
Il6	T	C	5: 30,224,512 (GRCm39)	L184P	probably damaging	Het
Impg2	T	A	16: 56,080,463 (GRCm39)	S756T	probably damaging	Het
Insyn2a	A	G	7: 134,520,207 (GRCm39)	S108P	probably damaging	Het
Kank4	T	G	4: 98,673,898 (GRCm39)	D5A	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,683 (GRCm39)	T349S	probably benign	Het
Keap1	A	G	9: 21,148,522 (GRCm39)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,312,161 (GRCm39)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,476,809 (GRCm39)	T257A	probably damaging	Het
Lyst	T	C	13: 13,808,989 (GRCm39)	S220P	probably benign	Het
M1ap	A	G	6: 83,005,339 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Myo5b	A	T	18: 74,849,105 (GRCm39)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,839,253 (GRCm39)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Odad2	T	C	18: 7,088,555 (GRCm39)	M1005V	probably benign	Het
Or14c39	A	T	7: 86,344,089 (GRCm39)	M142L	probably benign	Het
Or2ak5	T	A	11: 58,611,776 (GRCm39)	I33F	probably benign	Het
Or5al6	G	T	2: 85,976,877 (GRCm39)	A67E	probably damaging	Het
Or8j3c	C	T	2: 86,253,805 (GRCm39)	G72S	possibly damaging	Het
Otud6b	T	A	4: 14,826,293 (GRCm39)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,448,599 (GRCm39)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,011,158 (GRCm39)	D343V	possibly damaging	Het
Phf11	T	C	14: 59,495,932 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel15	C	A	4: 144,099,878 (GRCm39)	E296*	probably null	Het
Ranbp9	A	T	13: 43,588,331 (GRCm39)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 28,847,832 (GRCm39)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,418,226 (GRCm39)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,289,710 (GRCm39)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm39)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,073,317 (GRCm39)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,688,305 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,008,057 (GRCm39)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,503,907 (GRCm39)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm39)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 44,909,390 (GRCm39)	M185I	probably benign	Het
Stat4	A	G	1: 52,121,729 (GRCm39)	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 127,847,389 (GRCm39)	M1I	probably null	Het
Thoc2l	A	G	5: 104,670,124 (GRCm39)	K1549E	possibly damaging	Het
Tmem225	T	C	9: 40,060,639 (GRCm39)	V66A	probably benign	Het
Tmtc4	T	C	14: 123,178,714 (GRCm39)		probably null	Het
Trpc4	T	A	3: 54,102,217 (GRCm39)	N38K	probably benign	Het
Ttll12	A	T	15: 83,471,314 (GRCm39)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,778,769 (GRCm39)		probably null	Het
Tulp1	A	C	17: 28,570,969 (GRCm39)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,513,746 (GRCm39)	V299A	probably damaging	Het
Washc4	C	A	10: 83,419,200 (GRCm39)	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Zan	A	T	5: 137,460,155 (GRCm39)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,548,866 (GRCm39)	S773A	probably benign	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
R1971:Lpin1	UTSW	12	16,630,724 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGCATATTCTGGCGCAAGG -3'
(R):5'- GTAATGAGGACCTGCCAGAAC -3'

Sequencing Primer
(F):5'- TATTCTGGCGCAAGGAGAAATAAACC -3'
(R):5'- GAGGACCTGCCAGAACAAACATC -3'

Posted On

2016-06-06