Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Lpin3'

171897

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

039582-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160880670-160906002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160895390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

Ref Sequence

ENSEMBL: ENSMUSP00000105082 (fasta)

Gene Model

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

AlphaFold

Q99PI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040872
AA Change: D119G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: D119G

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: ENSMUST00000109455
AA Change: D119G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: D119G

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

possibly damaging
Transcript: ENSMUST00000109456
AA Change: D119G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: D119G

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: D119G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: D119G

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

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,968,204	V206I	probably damaging	Het
2610507B11Rik	A	G	11: 78,275,174	T1422A	probably benign	Het
4933425L06Rik	A	T	13: 105,112,369	R364*	probably null	Het
Abca8b	A	C	11: 109,974,674	M319R	probably damaging	Het
Abcc6	T	C	7: 46,016,504	R231G	probably benign	Het
Acadm	A	G	3: 153,929,572	Y302H	probably damaging	Het
Acox3	C	A	5: 35,603,008	R423S	probably damaging	Het
Adam7	T	A	14: 68,521,922		probably benign	Het
Adgrb3	A	C	1: 25,488,088	M589R	probably benign	Het
Adgrl2	A	C	3: 148,859,273	F224V	probably damaging	Het
Adm2	G	C	15: 89,324,079	G74A	probably damaging	Het
Aen	T	A	7: 78,902,622	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,192,516	V22D	possibly damaging	Het
Arap2	T	A	5: 62,606,155	K1549*	probably null	Het
Arhgef11	G	A	3: 87,713,017	R430H	probably benign	Het
Asb17	T	G	3: 153,844,511	L60W	probably damaging	Het
BC035044	T	C	6: 128,890,985		probably benign	Het
Cacna2d1	A	T	5: 16,266,718	M254L	possibly damaging	Het
Celf6	T	C	9: 59,603,877		probably benign	Het
Coro2b	C	T	9: 62,425,841	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,376,194		probably benign	Het
Cyp2c67	C	A	19: 39,643,264		probably benign	Het
Dclk3	A	G	9: 111,468,054	H222R	probably benign	Het
Deaf1	A	G	7: 141,324,147	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,144,448	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,594,211	V605E	probably benign	Het
Frem2	A	T	3: 53,572,455	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,981,587	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,872,424	I304N	probably damaging	Het
Hdac7	G	A	15: 97,809,529		probably benign	Het
Hipk1	T	C	3: 103,778,164	H45R	probably benign	Het
Hyal2	T	C	9: 107,570,187	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,068,521	R479W	probably damaging	Het
Lilr4b	A	G	10: 51,481,421	T118A	probably damaging	Het
Lin7a	C	A	10: 107,412,069	F78L	possibly damaging	Het
Lrp2	G	A	2: 69,500,730	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,720,018	K527E	probably benign	Het
Map10	C	T	8: 125,670,872	P335S	probably benign	Het
Mast3	A	G	8: 70,792,311	S2P	possibly damaging	Het
Mbtps1	A	G	8: 119,542,069		probably benign	Het
Mms22l	T	A	4: 24,591,084	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,812,372	A244D	possibly damaging	Het
Olfr1294	A	G	2: 111,537,797	V164A	probably benign	Het
Olfr3	A	T	2: 36,813,057	F12I	probably damaging	Het
Olfr358	C	A	2: 37,005,127	L162F	probably damaging	Het
Olfr592	T	A	7: 103,187,214	F204L	probably benign	Het
Olfr876	T	A	9: 37,803,947	I12N	possibly damaging	Het
Pcx	A	T	19: 4,602,223	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,683		probably null	Het
Pkd1l1	A	G	11: 8,901,200	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,740,882	L560P	probably damaging	Het
Psmd14	A	T	2: 61,785,530	M248L	probably benign	Het
Ryr1	T	G	7: 29,083,537	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,150,429	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,184,857	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,560,800	V236A	probably benign	Het
Sobp	T	C	10: 43,021,724	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,702,242	R691S	probably benign	Het
Speg	A	G	1: 75,421,951	E2014G	probably damaging	Het
Steap4	A	G	5: 7,975,902		probably benign	Het
Tas2r144	G	A	6: 42,215,603	M92I	probably benign	Het
Tbc1d5	T	C	17: 50,935,532	Q179R	probably benign	Het
Tcf25	T	C	8: 123,388,587	Y188H	probably benign	Het
Tmem2	G	T	19: 21,812,573	A668S	probably benign	Het
Tmem200a	G	A	10: 26,078,620		probably benign	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Tssk5	T	C	15: 76,372,209	T337A	probably benign	Het
Ttc23	T	C	7: 67,678,995	V228A	probably benign	Het
Tulp1	A	T	17: 28,362,671		probably benign	Het
Uqcc3	A	G	19: 8,880,753	F25L	probably damaging	Het
Vmn2r1	G	A	3: 64,089,573	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,522,374	E508K	probably benign	Het
Wdfy3	C	A	5: 101,844,081	V3451L	probably benign	Het
Wdr19	G	A	5: 65,224,690	V418I	probably benign	Het
Wdr60	T	C	12: 116,231,784		probably benign	Het
Xirp2	C	T	2: 67,508,039	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,991,676	V639A	probably benign	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
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
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

PCR Primer
(F):5'- ACTGTGGCATCGCCTCAGTTAGAG -3'
(R):5'- TGTCCAGAGTTGCACAGCATCC -3'

Sequencing Primer
(F):5'- AGTGTAGGCTGCTGCCATC -3'
(R):5'- CATCCGCAGAAGAAATGTTTGG -3'

Posted On

2014-04-13