Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Lpin3'

35503

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0211 (G1)

Quality Score

134

Status

Not validated

Chromosome

Chromosomal Location

160722590-160747920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160740601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 382 (D382V)

Ref Sequence

ENSEMBL: ENSMUSP00000105081 (fasta)

Gene Model

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

AlphaFold

Q99PI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040872
AA Change: D382V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: D382V

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: D382V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: D382V

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: D382V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: D382V

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: D382V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: D382V

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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	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
IGL02374:Lpin3	APN	2	160,737,758 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGTAGCCATTGATTTATAGGAGGCCAAA -3'
(R):5'- CCATACTCACTGAGGACAAAGAGAGCA -3'

Sequencing Primer
(F):5'- ccacctctctgccacac -3'
(R):5'- AAGAGAGCAGCAATGATATGAATAC -3'

Posted On

2013-05-09