Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Lpin3'

654283

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160880670-160906002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160895353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 107 (P107S)

Ref Sequence

ENSEMBL: ENSMUSP00000105083 (fasta)

Gene Model

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

AlphaFold

Q99PI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040872
AA Change: P107S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: P107S

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 damaging
Transcript: ENSMUST00000109455
AA Change: P107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: P107S

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 damaging
Transcript: ENSMUST00000109456
AA Change: P107S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: P107S

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 damaging
Transcript: ENSMUST00000109457
AA Change: P107S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: P107S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,613,456	V1090A	probably benign	Het
2410089E03Rik	A	G	15: 8,201,151	I971V	probably benign	Het
Abcc6	C	T	7: 45,980,025	V1293M	probably damaging	Het
Agt	A	G	8: 124,563,798	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,713,099	N457K	probably benign	Het
Bcl3	G	T	7: 19,820,157	H95Q	probably benign	Het
C1d	T	A	11: 17,263,662	N64K	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd300c2	C	T	11: 115,000,640	S136N	probably benign	Het
Cdh8	A	G	8: 99,031,040	V642A	possibly damaging	Het
Cep290	A	T	10: 100,495,844	I180F	possibly damaging	Het
Copz2	A	G	11: 96,854,061	E86G	probably damaging	Het
Csf3r	A	T	4: 126,029,919	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,838,940	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,375,667	Q580R	probably damaging	Het
Dnaic2	A	T	11: 114,754,449	K570M	unknown	Het
Dock8	A	G	19: 25,155,917	K1143E	probably benign	Het
Dxo	T	C	17: 34,839,123	S394P	probably benign	Het
Etl4	A	G	2: 20,806,166	D1388G	probably benign	Het
F13a1	C	A	13: 37,025,718	R91L	probably damaging	Het
Fam35a	A	C	14: 34,267,985	N321K	probably benign	Het
Fam50b	C	T	13: 34,746,873	R111*	probably null	Het
Fat2	T	G	11: 55,311,709	N180H	probably damaging	Het
Fitm2	A	T	2: 163,469,848	H148Q	probably benign	Het
Fjx1	A	T	2: 102,450,811	S260T	possibly damaging	Het
Fos	T	C	12: 85,475,692	L165P	probably damaging	Het
Gm39115	C	A	7: 142,135,973	C21F	unknown	Het
Gucy1a1	C	T	3: 82,097,693	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,329,109	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,928,744	K9N	probably damaging	Het
Ireb2	T	C	9: 54,903,981	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,519,348	V2580I	probably damaging	Het
Kcnu1	G	A	8: 25,892,064	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Klra8	A	G	6: 130,128,093	V23A	probably damaging	Het
Lig4	A	G	8: 9,973,777	M1T	probably null	Het
Lrp1b	T	A	2: 41,375,855	K1100*	probably null	Het
Obscn	G	A	11: 59,038,874	H5172Y	probably damaging	Het
Olfr1181	A	G	2: 88,423,401	I208T	probably benign	Het
Olfr1348	T	A	7: 6,501,735	T170S	probably damaging	Het
Olfr290	C	T	7: 84,916,579	H267Y	probably benign	Het
Olfr512	T	A	7: 108,714,211	M286K	possibly damaging	Het
Olfr892-ps1	A	T	9: 38,190,202	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173	L298P	probably damaging	Het
Otub1	A	G	19: 7,199,995	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,686,642	S156P	probably benign	Het
Pde3b	A	G	7: 114,526,894	M788V	probably damaging	Het
Pias4	A	G	10: 81,157,010		probably null	Het
Polg	A	G	7: 79,464,995	C73R	probably benign	Het
Ptbp2	T	C	3: 119,747,818	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,493,629	F175I	probably damaging	Het
Rfx1	A	G	8: 84,079,886	T108A	probably benign	Het
Ribc2	A	G	15: 85,135,260	D81G	probably benign	Het
Rnf213	T	G	11: 119,449,323	M3460R		Het
Rsf1	T	A	7: 97,616,896	S86T		Het
Rxfp2	C	A	5: 150,049,603	T181N	possibly damaging	Het
Samm50	G	A	15: 84,210,501	E365K	possibly damaging	Het
Slc22a18	T	C	7: 143,497,386	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,133,441	C97S	probably benign	Het
Smchd1	T	A	17: 71,407,249	H873L	probably benign	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Sphkap	T	A	1: 83,278,232	I599F	probably benign	Het
Stox1	A	G	10: 62,665,764	V339A	probably damaging	Het
Tlx1	A	G	19: 45,153,597	E220G	probably damaging	Het
Tmem71	C	A	15: 66,541,572		probably null	Het
Tmprss3	T	C	17: 31,195,002	D56G	possibly damaging	Het
Trabd	A	G	15: 89,085,904	R368G	probably benign	Het
Trf	A	G	9: 103,217,476	I461T	probably damaging	Het
Trpm3	A	G	19: 22,698,862	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,295,383	V667I	possibly damaging	Het
Ttc30a1	T	C	2: 75,981,175	D188G	probably benign	Het
Vps13b	T	A	15: 35,455,100	N718K	probably benign	Het
Zdbf2	T	C	1: 63,306,007	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,576,892	D235G	probably benign	Het
Zfp407	T	C	18: 84,209,862	E1874G	probably damaging	Het
Zfp503	T	C	14: 21,986,209	K213R	probably benign	Het
Zkscan2	A	G	7: 123,485,428	V491A	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
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
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
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'- GTTCTGATAGAGTTGCCTGGAC -3'
(R):5'- TGCCTCCAACTCTTCAGAAC -3'

Sequencing Primer
(F):5'- GGCATCGCCTCAGTTAGAG -3'
(R):5'- TCTTCAGAACTGGAGTCCACG -3'

Posted On

2020-10-20