Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02374:Lpin3'

291045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02374

Quality Score

Status

Chromosome

Chromosomal Location

160722590-160747920 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 160737758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105083 (fasta)

Gene Model

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

AlphaFold

Q99PI4

Predicted Effect

probably benign
Transcript: ENSMUST00000040872

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412

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

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412

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

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412

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

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,073,003 (GRCm39)	Y35H	probably damaging	Het
Cnksr3	A	G	10: 7,070,335 (GRCm39)	S300P	probably damaging	Het
Col27a1	T	C	4: 63,211,486 (GRCm39)	S1013P	possibly damaging	Het
Cyp39a1	A	G	17: 44,060,872 (GRCm39)		probably benign	Het
Deptor	G	T	15: 55,044,357 (GRCm39)	L174F	probably damaging	Het
Fah	T	C	7: 84,254,909 (GRCm39)	E8G	probably benign	Het
Fastk	C	A	5: 24,649,247 (GRCm39)	A47S	possibly damaging	Het
Foxl2	C	T	9: 98,837,885 (GRCm39)	L58F	probably damaging	Het
Gm57858	T	C	3: 36,074,108 (GRCm39)	Q347R	possibly damaging	Het
Igf2bp2	G	T	16: 21,900,618 (GRCm39)	H106Q	probably benign	Het
Igkv12-47	T	C	6: 69,727,959 (GRCm39)	T71A	probably benign	Het
Ino80d	T	C	1: 63,125,220 (GRCm39)	I81V	possibly damaging	Het
Ints9	G	A	14: 65,276,782 (GRCm39)	E650K	probably benign	Het
Klc2	T	C	19: 5,160,438 (GRCm39)	N408S	possibly damaging	Het
Klhl32	A	T	4: 24,743,856 (GRCm39)		probably null	Het
Ksr1	C	T	11: 78,919,317 (GRCm39)	G504D	probably benign	Het
Lonp2	C	A	8: 87,435,673 (GRCm39)	D636E	probably damaging	Het
Mcmdc2	C	T	1: 9,982,207 (GRCm39)	A56V	possibly damaging	Het
Or10al7	A	T	17: 38,366,412 (GRCm39)	V24D	probably damaging	Het
Or4p8	A	T	2: 88,727,803 (GRCm39)	I46N	probably damaging	Het
Pex1	T	C	5: 3,685,481 (GRCm39)	I1163T	probably benign	Het
Ppp1r3a	C	T	6: 14,718,599 (GRCm39)	V772I	probably damaging	Het
Ptbp2	A	T	3: 119,514,342 (GRCm39)		probably benign	Het
Rell1	A	T	5: 64,095,151 (GRCm39)	I105K	possibly damaging	Het
Sis	A	T	3: 72,832,789 (GRCm39)	S1003T	probably benign	Het
Slc26a3	T	A	12: 31,520,832 (GRCm39)		probably benign	Het
Stap1	G	A	5: 86,244,410 (GRCm39)	G264R	probably damaging	Het
Tmem176b	T	C	6: 48,811,560 (GRCm39)	N30D	possibly damaging	Het
Tmprss15	A	T	16: 78,832,056 (GRCm39)	Y367N	probably benign	Het
Ttc41	A	G	10: 86,611,815 (GRCm39)	D1061G	probably damaging	Het
Ufl1	A	C	4: 25,259,237 (GRCm39)	D460E	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Wdfy2	T	C	14: 63,171,833 (GRCm39)	S194P	probably benign	Het
Zfp408	A	C	2: 91,476,156 (GRCm39)	C333G	probably damaging	Het
Zfp592	T	C	7: 80,674,731 (GRCm39)	V565A	probably damaging	Het

Other mutations in Lpin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Lpin3	APN	2	160,735,918 (GRCm39)	missense	probably damaging	1.00
IGL01373:Lpin3	APN	2	160,745,649 (GRCm39)	missense	probably damaging	1.00
IGL01576:Lpin3	APN	2	160,739,047 (GRCm39)	missense	probably benign	0.02
IGL02124:Lpin3	APN	2	160,737,753 (GRCm39)	critical splice donor site	probably null
IGL02272:Lpin3	APN	2	160,743,581 (GRCm39)	missense	probably benign	0.15
IGL02314:Lpin3	APN	2	160,740,638 (GRCm39)	nonsense	probably null
IGL02554:Lpin3	APN	2	160,738,707 (GRCm39)	missense	probably damaging	1.00
IGL02693:Lpin3	APN	2	160,746,975 (GRCm39)	missense	probably damaging	1.00
IGL02858:Lpin3	APN	2	160,740,540 (GRCm39)	splice site	probably benign
IGL03143:Lpin3	APN	2	160,745,518 (GRCm39)	splice site	probably benign
R0100:Lpin3	UTSW	2	160,747,260 (GRCm39)	missense	probably damaging	1.00
R0100:Lpin3	UTSW	2	160,747,260 (GRCm39)	missense	probably damaging	1.00
R0211:Lpin3	UTSW	2	160,740,601 (GRCm39)	missense	probably damaging	1.00
R0211:Lpin3	UTSW	2	160,740,601 (GRCm39)	missense	probably damaging	1.00
R0329:Lpin3	UTSW	2	160,747,225 (GRCm39)	missense	probably benign
R0330:Lpin3	UTSW	2	160,747,225 (GRCm39)	missense	probably benign
R0570:Lpin3	UTSW	2	160,745,944 (GRCm39)	splice site	probably benign
R0633:Lpin3	UTSW	2	160,745,894 (GRCm39)	missense	probably damaging	0.99
R0781:Lpin3	UTSW	2	160,735,999 (GRCm39)	missense	probably benign	0.03
R1109:Lpin3	UTSW	2	160,740,941 (GRCm39)	missense	probably damaging	1.00
R1110:Lpin3	UTSW	2	160,735,999 (GRCm39)	missense	probably benign	0.03
R1404:Lpin3	UTSW	2	160,734,310 (GRCm39)	critical splice donor site	probably null
R1404:Lpin3	UTSW	2	160,734,310 (GRCm39)	critical splice donor site	probably null
R1513:Lpin3	UTSW	2	160,746,468 (GRCm39)	missense	probably damaging	1.00
R1543:Lpin3	UTSW	2	160,737,310 (GRCm39)	missense	possibly damaging	0.69
R1785:Lpin3	UTSW	2	160,738,729 (GRCm39)	nonsense	probably null
R1786:Lpin3	UTSW	2	160,738,729 (GRCm39)	nonsense	probably null
R1896:Lpin3	UTSW	2	160,747,218 (GRCm39)	missense	probably damaging	1.00
R4440:Lpin3	UTSW	2	160,740,565 (GRCm39)	missense	probably benign
R4470:Lpin3	UTSW	2	160,737,354 (GRCm39)	missense	probably benign	0.00
R4996:Lpin3	UTSW	2	160,747,207 (GRCm39)	missense	probably damaging	1.00
R5014:Lpin3	UTSW	2	160,746,748 (GRCm39)	missense	probably damaging	1.00
R5124:Lpin3	UTSW	2	160,738,981 (GRCm39)	missense	probably benign
R5184:Lpin3	UTSW	2	160,739,058 (GRCm39)	missense	probably benign
R5405:Lpin3	UTSW	2	160,745,849 (GRCm39)	missense	probably damaging	1.00
R5442:Lpin3	UTSW	2	160,746,936 (GRCm39)	missense	probably damaging	1.00
R5666:Lpin3	UTSW	2	160,739,250 (GRCm39)	missense	probably benign
R5670:Lpin3	UTSW	2	160,739,250 (GRCm39)	missense	probably benign
R5693:Lpin3	UTSW	2	160,737,320 (GRCm39)	missense	probably benign	0.00
R6084:Lpin3	UTSW	2	160,737,721 (GRCm39)	missense	probably benign	0.38
R6994:Lpin3	UTSW	2	160,746,803 (GRCm39)	missense	probably damaging	1.00
R7090:Lpin3	UTSW	2	160,738,672 (GRCm39)	missense	probably damaging	0.96
R7157:Lpin3	UTSW	2	160,740,627 (GRCm39)	missense	probably benign	0.02
R7207:Lpin3	UTSW	2	160,735,923 (GRCm39)	nonsense	probably null
R7430:Lpin3	UTSW	2	160,740,586 (GRCm39)	missense	probably benign	0.06
R7459:Lpin3	UTSW	2	160,739,220 (GRCm39)	missense	probably benign	0.06
R7603:Lpin3	UTSW	2	160,745,674 (GRCm39)	splice site	probably null
R7644:Lpin3	UTSW	2	160,738,690 (GRCm39)	missense	probably benign	0.02
R7706:Lpin3	UTSW	2	160,747,210 (GRCm39)	missense	probably damaging	1.00
R7803:Lpin3	UTSW	2	160,737,310 (GRCm39)	missense	possibly damaging	0.69
R8443:Lpin3	UTSW	2	160,737,273 (GRCm39)	missense	probably damaging	1.00
R8985:Lpin3	UTSW	2	160,738,674 (GRCm39)	missense	probably benign	0.00
R9288:Lpin3	UTSW	2	160,745,552 (GRCm39)	missense	probably damaging	1.00
R9385:Lpin3	UTSW	2	160,738,993 (GRCm39)	missense	probably benign
R9455:Lpin3	UTSW	2	160,737,259 (GRCm39)	missense	probably benign	0.02
R9482:Lpin3	UTSW	2	160,746,416 (GRCm39)	missense	probably damaging	1.00
R9700:Lpin3	UTSW	2	160,740,565 (GRCm39)	missense	probably benign	0.11
R9732:Lpin3	UTSW	2	160,734,196 (GRCm39)	missense	probably damaging	1.00
X0002:Lpin3	UTSW	2	160,745,637 (GRCm39)	missense	probably damaging	1.00
Z1088:Lpin3	UTSW	2	160,734,151 (GRCm39)	missense	probably damaging	0.99
Z1176:Lpin3	UTSW	2	160,741,705 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16