Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Lpin3'

482359

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160722590-160747920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160737721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 197 (Y197C)

Ref Sequence

ENSEMBL: ENSMUSP00000105082 (fasta)

Gene Model

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

AlphaFold

Q99PI4

Predicted Effect

probably benign
Transcript: ENSMUST00000040872
AA Change: Y197C

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: Y197C

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: Y197C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: Y197C

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: Y197C

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: Y197C

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: Y197C

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: Y197C

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,828,297 (GRCm39)	D958G	possibly damaging	Het
Bag4	T	C	8: 26,261,259 (GRCm39)	T161A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,374,720 (GRCm39)		probably null	Het
Cass4	G	T	2: 172,268,832 (GRCm39)	A307S	probably benign	Het
Cbln4	A	T	2: 171,884,016 (GRCm39)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,826,015 (GRCm39)	N2K	probably benign	Het
Ccnf	T	A	17: 24,450,811 (GRCm39)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,578,773 (GRCm39)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,616,812 (GRCm39)	I161V	probably benign	Het
Cfap65	A	G	1: 74,959,564 (GRCm39)	I862T	probably damaging	Het
Cfi	T	A	3: 129,652,019 (GRCm39)	L230Q	probably benign	Het
Chac2	G	A	11: 30,936,159 (GRCm39)	R30W	probably damaging	Het
Cmc2	G	A	8: 117,616,566 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm39)	M1L	probably benign	Het
Cox8a	C	A	19: 7,194,783 (GRCm39)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,435,708 (GRCm39)	N1083Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,504 (GRCm39)	D132G	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,527,212 (GRCm39)	D358G	probably benign	Het
Dysf	T	A	6: 83,996,586 (GRCm39)	F29L	probably damaging	Het
Dysf	T	C	6: 84,089,101 (GRCm39)	L888P	probably damaging	Het
Ebf4	A	G	2: 130,151,643 (GRCm39)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,668,570 (GRCm39)	L91*	probably null	Het
Foxs1	T	C	2: 152,774,762 (GRCm39)	D97G	possibly damaging	Het
Frs2	A	C	10: 116,912,714 (GRCm39)		probably null	Het
Grp	A	T	18: 66,013,008 (GRCm39)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,988,616 (GRCm39)	F537C	probably damaging	Het
Icam4	G	A	9: 20,940,835 (GRCm39)	S29N	probably benign	Het
Itfg1	T	C	8: 86,452,799 (GRCm39)	E523G	probably benign	Het
Jph2	T	C	2: 163,217,600 (GRCm39)	K359E	probably damaging	Het
Katnip	G	A	7: 125,414,037 (GRCm39)	G394R	probably benign	Het
Kcnq2	A	T	2: 180,729,449 (GRCm39)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,257,795 (GRCm39)	M548I	possibly damaging	Het
Lrp1	T	C	10: 127,396,422 (GRCm39)	N2381D	probably benign	Het
Man1a	A	T	10: 53,795,307 (GRCm39)	W649R	probably damaging	Het
Map4	T	C	9: 109,893,360 (GRCm39)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,928,284 (GRCm39)	H52L	probably damaging	Het
Mok	C	G	12: 110,781,380 (GRCm39)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,075,400 (GRCm39)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncoa4-ps	A	G	12: 119,225,386 (GRCm39)		noncoding transcript	Het
Or1j13	A	G	2: 36,369,524 (GRCm39)	V206A	probably benign	Het
Or4g7	A	T	2: 111,309,734 (GRCm39)	N202Y	probably damaging	Het
Or52z1	C	T	7: 103,437,162 (GRCm39)	M107I	probably benign	Het
Or55b4	T	C	7: 102,133,596 (GRCm39)	T244A	probably damaging	Het
Or7d11	A	T	9: 19,966,179 (GRCm39)	H75Q	possibly damaging	Het
Or7g21	A	G	9: 19,032,623 (GRCm39)	D121G	probably damaging	Het
Padi3	G	T	4: 140,523,154 (GRCm39)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,160,420 (GRCm39)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,740,726 (GRCm39)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,819,289 (GRCm39)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,393,829 (GRCm39)	C225*	probably null	Het
Prmt2	G	A	10: 76,046,278 (GRCm39)	T317I	probably benign	Het
Psg22	T	G	7: 18,453,705 (GRCm39)	N172K	probably benign	Het
Ptpn9	C	T	9: 56,940,447 (GRCm39)	R196*	probably null	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,026,622 (GRCm39)		probably null	Het
Rlf	A	T	4: 121,006,412 (GRCm39)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,616,255 (GRCm39)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm39)	E636G	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,738,838 (GRCm39)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,680,110 (GRCm39)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,224,989 (GRCm39)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,492,496 (GRCm39)	V293A	probably benign	Het
Spidr	A	T	16: 15,957,888 (GRCm39)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,298,994 (GRCm39)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,067,889 (GRCm39)	V121I	probably damaging	Het
Synj2	A	T	17: 6,088,373 (GRCm39)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,895,543 (GRCm39)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,861,164 (GRCm39)	I986F	probably benign	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,129,814 (GRCm39)	D283V	probably benign	Het
Ttn	T	A	2: 76,645,123 (GRCm39)	K673*	probably null	Het
Ubqlnl	T	A	7: 103,797,905 (GRCm39)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,832,721 (GRCm39)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,024,467 (GRCm39)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,366,205 (GRCm39)	Q243L	probably damaging	Het
Wdr24	C	A	17: 26,043,504 (GRCm39)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 73,974,672 (GRCm39)	K314*	probably null	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
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
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'- AAACATTTCTTCTGCGGATGCTG -3'
(R):5'- AGTTTGATCCTTAGCCCAAACTG -3'

Posted On

2017-07-14