Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Lpin3'

65087

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0329 (G1)

Quality Score

225

Status

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: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

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: 107 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
4931409K22Rik	T	C	5: 24,545,785		probably null	Het
Abca13	A	T	11: 9,399,430	H3668L	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adam28	T	C	14: 68,617,739	K651R	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
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,812,073		probably benign	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
Casp12	T	A	9: 5,345,534		probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,734,801		probably benign	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,441,910	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,188,309	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Crcp	C	A	5: 130,042,242	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,187,411	D414E	probably benign	Het
Ddx28	T	C	8: 106,010,245	T394A	probably benign	Het
Ddx55	T	C	5: 124,559,147	F191L	probably benign	Het
Dnaaf1	T	C	8: 119,596,017		probably benign	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elf5	A	G	2: 103,430,420		probably benign	Het
Emcn	T	A	3: 137,416,814		probably benign	Het
Erbb4	T	C	1: 68,298,280		probably benign	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Etfdh	T	C	3: 79,609,844	I353V	probably benign	Het
Fam172a	T	A	13: 77,761,951		probably benign	Het
Fbxl12	C	T	9: 20,638,480	G316D	probably damaging	Het
Gbf1	G	A	19: 46,272,270		probably null	Het
Gbp2b	T	G	3: 142,608,176	S406A	probably benign	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
Gp1ba	A	G	11: 70,640,409		probably benign	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,259,864	I285T	probably benign	Het
Hrh4	A	G	18: 13,007,245		probably benign	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Hspa13	A	T	16: 75,765,130	D60E	probably damaging	Het
Htt	T	A	5: 34,817,134		probably benign	Het
Ispd	C	T	12: 36,381,838	A22V	possibly damaging	Het
Kif14	G	C	1: 136,496,026		probably benign	Het
Kit	T	G	5: 75,652,829	V888G	probably damaging	Het
Lrriq4	T	C	3: 30,655,724	S406P	probably benign	Het
Man2c1	T	C	9: 57,141,183	V777A	probably benign	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly 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
Myo9a	C	G	9: 59,923,677	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,749,526	F11L	probably benign	Het
Nutf2	T	A	8: 105,876,363	S37T	probably damaging	Het
Obscn	T	A	11: 59,040,441	I5790F	probably damaging	Het
Obscn	A	T	11: 59,052,506	D4833E	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
Olfr39	T	A	9: 20,285,857	S61T	possibly damaging	Het
Olfr955	T	C	9: 39,470,556	T57A	possibly damaging	Het
Pcdhb1	A	G	18: 37,267,024	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Pdk1	T	C	2: 71,895,674		probably benign	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Pidd1	A	T	7: 141,439,561		probably benign	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,831		probably benign	Het
Prdm5	T	C	6: 65,862,903		probably benign	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,361,976	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,373,235	R218*	probably null	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stat4	A	G	1: 52,090,870		probably benign	Het
Steap4	T	C	5: 7,975,829	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tgm4	T	C	9: 123,048,557		probably null	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Tmem145	A	G	7: 25,308,674		probably benign	Het
Tsacc	A	G	3: 88,282,862	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Ugt2b35	A	G	5: 87,003,405	K290R	probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Usp10	T	A	8: 119,936,557	C39*	probably null	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,691,018	C797F	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
Wdr27	A	G	17: 14,934,459		probably benign	Het
Ythdc2	A	G	18: 44,865,060		probably benign	Het
Zcwpw2	C	A	9: 118,014,055		noncoding transcript	Het
Zdhhc1	C	A	8: 105,483,543	A81S	probably benign	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably 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
R0330: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