Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Lpin1'

194884

Institutional Source

Beutler Lab

Gene Symbol

Lpin1

Ensembl Gene

ENSMUSG00000020593

Gene Name

lipin 1

Synonyms

Lipin1

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

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

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16585670-16696967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16588541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 883 (V883A)

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 damaging
Transcript: ENSMUST00000067124
AA Change: V883A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: V883A

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: V883A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: V883A

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

possibly damaging
Transcript: ENSMUST00000221230
AA Change: V850A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221297
AA Change: V883A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222989
AA Change: V850A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.3762

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cdk12	C	A	11: 98,132,587 (GRCm39)	C1005*	probably null	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfap54	A	T	10: 92,883,923 (GRCm39)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Helb	G	T	10: 119,930,147 (GRCm39)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,318,669 (GRCm39)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,743,207 (GRCm39)	K298E	probably benign	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Sec24a	A	G	11: 51,624,590 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	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
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
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'- GCCCTCCATGCTTAGAAGTGTCAC -3'
(R):5'- GCTGTCTGTTCTTCACGATGCCAG -3'

Sequencing Primer
(F):5'- GAGAAATGCTTCTCTCTTAGGCAG -3'
(R):5'- GGCTTGGCATACCCTGTCTC -3'

Posted On

2014-05-23