Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Lpin3'

65151

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

038539-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160880670-160906002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160905305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 827 (V827A)

Ref Sequence

ENSEMBL: ENSMUSP00000105083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040872] [ENSMUST00000057169] [ENSMUST00000109454] [ENSMUST00000109455] [ENSMUST00000109456] [ENSMUST00000109457]

AlphaFold

Q99PI4

Predicted Effect

probably benign
Transcript: ENSMUST00000040872
AA Change: V817A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: V817A

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	5.8e-52	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	559	569	N/A	INTRINSIC
LNS2	637	793	1.4e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057169

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EMI	55	125	7.3e-18	PFAM
low complexity region	144	161	N/A	INTRINSIC
low complexity region	281	295	N/A	INTRINSIC
low complexity region	359	381	N/A	INTRINSIC
low complexity region	451	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109454

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EMI	54	127	6.4e-22	PFAM
low complexity region	144	161	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
low complexity region	312	334	N/A	INTRINSIC
low complexity region	404	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109455
AA Change: V786A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: V786A

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	2.4e-52	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	528	538	N/A	INTRINSIC
LNS2	606	762	1.4e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109456
AA Change: V817A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: V817A

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	5.8e-52	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	559	569	N/A	INTRINSIC
LNS2	637	793	1.4e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109457
AA Change: V827A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: V827A

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	110	4.1e-48	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
Pfam:Lipin_mid	435	538	9.5e-35	PFAM
low complexity region	569	579	N/A	INTRINSIC
LNS2	647	803	1.4e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124920

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

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 member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
Acaa1b	T	C	9: 119,153,970	N120S	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
AI661453	G	A	17: 47,446,646	R76Q	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap12	T	A	18: 6,039,382	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Arhgef12	A	C	9: 43,020,686	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,642,501	H592R	probably damaging	Het
BC049715	A	G	6: 136,840,037	T92A	possibly damaging	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Capn8	T	A	1: 182,630,138	I689N	probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cep57	G	A	9: 13,816,985	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Chd3	T	G	11: 69,356,333	D1003A	probably damaging	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,915,322	V3A	probably benign	Het
Col17a1	T	C	19: 47,670,432	T413A	probably benign	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Fanca	A	T	8: 123,274,172	C1156*	probably null	Het
Flot2	T	A	11: 78,058,958	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,707,753	V707A	possibly damaging	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,251,886	E518G	probably damaging	Het
Hrasls5	T	A	19: 7,637,298		probably null	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Impg2	A	G	16: 56,252,264	Y353C	probably damaging	Het
Kank1	A	G	19: 25,424,313	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,757,743	C45Y	probably damaging	Het
Kif13b	A	G	14: 64,803,220	T1590A	probably benign	Het
Lrp1b	A	T	2: 40,701,761	C73*	probably null	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly damaging	Het
Med12l	A	G	3: 59,227,702	E757G	probably damaging	Het
Mep1a	A	G	17: 43,497,898		probably null	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myof	A	C	19: 37,935,878	I1297S	probably damaging	Het
Nacad	A	G	11: 6,600,903	S763P	probably benign	Het
Nbea	A	G	3: 55,642,817	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr370	A	G	8: 83,541,513	Y123C	probably damaging	Het
Olfr828	A	G	9: 18,815,641	Y218H	probably damaging	Het
Optn	A	T	2: 5,034,255	N352K	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Plb1	T	A	5: 32,355,357	F1353Y	probably damaging	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pygo2	T	A	3: 89,433,154	N286K	possibly damaging	Het
Rttn	G	A	18: 88,986,080		probably null	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Sidt2	A	G	9: 45,954,902	I2T	probably benign	Het
Slc12a3	A	T	8: 94,346,346	N699I	possibly damaging	Het
Slc25a30	G	A	14: 75,762,672	Q285*	probably null	Het
Slc4a9	A	T	18: 36,535,539	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stac3	C	A	10: 127,507,747		probably null	Het
Stk32a	A	G	18: 43,313,501	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,158,729		probably null	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Trappc12	A	G	12: 28,747,260	V91A	probably benign	Het
Trim46	G	T	3: 89,236,513	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,043,066	I336L	probably benign	Het
Xylb	T	C	9: 119,381,587	S379P	probably damaging	Het
Zbtb37	T	C	1: 161,032,496	T80A	probably benign	Het
Zfhx3	A	G	8: 108,948,957	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,771,029	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,771,994	N356K	possibly damaging	Het

Other mutations in Lpin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Lpin3	APN	2	160893998	missense	probably damaging	1.00
IGL01373:Lpin3	APN	2	160903729	missense	probably damaging	1.00
IGL01576:Lpin3	APN	2	160897127	missense	probably benign	0.02
IGL02124:Lpin3	APN	2	160895833	critical splice donor site	probably null
IGL02272:Lpin3	APN	2	160901661	missense	probably benign	0.15
IGL02314:Lpin3	APN	2	160898718	nonsense	probably null
IGL02374:Lpin3	APN	2	160895838	splice site	probably benign
IGL02554:Lpin3	APN	2	160896787	missense	probably damaging	1.00
IGL02693:Lpin3	APN	2	160905055	missense	probably damaging	1.00
IGL02858:Lpin3	APN	2	160898620	splice site	probably benign
IGL03143:Lpin3	APN	2	160903598	splice site	probably benign
R0100:Lpin3	UTSW	2	160905340	missense	probably damaging	1.00
R0100:Lpin3	UTSW	2	160905340	missense	probably damaging	1.00
R0211:Lpin3	UTSW	2	160898681	missense	probably damaging	1.00
R0211:Lpin3	UTSW	2	160898681	missense	probably damaging	1.00
R0329:Lpin3	UTSW	2	160905305	missense	probably benign
R0570:Lpin3	UTSW	2	160904024	splice site	probably benign
R0633:Lpin3	UTSW	2	160903974	missense	probably damaging	0.99
R0781:Lpin3	UTSW	2	160894079	missense	probably benign	0.03
R1109:Lpin3	UTSW	2	160899021	missense	probably damaging	1.00
R1110:Lpin3	UTSW	2	160894079	missense	probably benign	0.03
R1404:Lpin3	UTSW	2	160892390	critical splice donor site	probably null
R1404:Lpin3	UTSW	2	160892390	critical splice donor site	probably null
R1513:Lpin3	UTSW	2	160904548	missense	probably damaging	1.00
R1543:Lpin3	UTSW	2	160895390	missense	possibly damaging	0.69
R1785:Lpin3	UTSW	2	160896809	nonsense	probably null
R1786:Lpin3	UTSW	2	160896809	nonsense	probably null
R1896:Lpin3	UTSW	2	160905298	missense	probably damaging	1.00
R4440:Lpin3	UTSW	2	160898645	missense	probably benign
R4470:Lpin3	UTSW	2	160895434	missense	probably benign	0.00
R4996:Lpin3	UTSW	2	160905287	missense	probably damaging	1.00
R5014:Lpin3	UTSW	2	160904828	missense	probably damaging	1.00
R5124:Lpin3	UTSW	2	160897061	missense	probably benign
R5184:Lpin3	UTSW	2	160897138	missense	probably benign
R5405:Lpin3	UTSW	2	160903929	missense	probably damaging	1.00
R5442:Lpin3	UTSW	2	160905016	missense	probably damaging	1.00
R5666:Lpin3	UTSW	2	160897330	missense	probably benign
R5670:Lpin3	UTSW	2	160897330	missense	probably benign
R5693:Lpin3	UTSW	2	160895400	missense	probably benign	0.00
R6084:Lpin3	UTSW	2	160895801	missense	probably benign	0.38
R6994:Lpin3	UTSW	2	160904883	missense	probably damaging	1.00
R7090:Lpin3	UTSW	2	160896752	missense	probably damaging	0.96
R7157:Lpin3	UTSW	2	160898707	missense	probably benign	0.02
R7207:Lpin3	UTSW	2	160894003	nonsense	probably null
R7430:Lpin3	UTSW	2	160898666	missense	probably benign	0.06
R7459:Lpin3	UTSW	2	160897300	missense	probably benign	0.06
R7603:Lpin3	UTSW	2	160903754	splice site	probably null
R7644:Lpin3	UTSW	2	160896770	missense	probably benign	0.02
R7706:Lpin3	UTSW	2	160905290	missense	probably damaging	1.00
R7803:Lpin3	UTSW	2	160895390	missense	possibly damaging	0.69
R8443:Lpin3	UTSW	2	160895353	missense	probably damaging	1.00
R8985:Lpin3	UTSW	2	160896754	missense	probably benign	0.00
R9288:Lpin3	UTSW	2	160903632	missense	probably damaging	1.00
R9385:Lpin3	UTSW	2	160897073	missense	probably benign
R9455:Lpin3	UTSW	2	160895339	missense	probably benign	0.02
R9482:Lpin3	UTSW	2	160904496	missense	probably damaging	1.00
R9700:Lpin3	UTSW	2	160898645	missense	probably benign	0.11
R9732:Lpin3	UTSW	2	160892276	missense	probably damaging	1.00
X0002:Lpin3	UTSW	2	160903717	missense	probably damaging	1.00
Z1088:Lpin3	UTSW	2	160892231	missense	probably damaging	0.99
Z1176:Lpin3	UTSW	2	160899785	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08