Mutagenetix > Incidental Mutation

Incidental Mutation 'R7644:Lpin3'

590398

Institutional Source

Beutler Lab

Gene Symbol

Lpin3

Ensembl Gene

ENSMUSG00000027412

Gene Name

lipin 3

Synonyms

9130206L11Rik

MMRRC Submission

045723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160722590-160747920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160738690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 214 (M214K)

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
AA Change: M214K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: M214K

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: M214K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: M214K

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: M214K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: M214K

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: M214K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: M214K

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	C	T	2: 30,687,966 (GRCm39)	R209Q	possibly damaging	Het
Abl2	A	G	1: 156,443,563 (GRCm39)	D24G	probably benign	Het
Adar	C	T	3: 89,652,826 (GRCm39)	A754V	probably benign	Het
Adcy8	C	T	15: 64,571,218 (GRCm39)	V1172I	possibly damaging	Het
Adgrl2	C	T	3: 148,544,789 (GRCm39)	V769M	probably damaging	Het
Akna	T	A	4: 63,313,634 (GRCm39)	Q163L	possibly damaging	Het
Alox15	C	T	11: 70,236,368 (GRCm39)	A511T	probably null	Het
Ano8	C	T	8: 71,937,474 (GRCm39)	G90D	probably damaging	Het
Aqp5	G	A	15: 99,492,107 (GRCm39)	R235H	probably damaging	Het
B3galt4	A	T	17: 34,169,419 (GRCm39)	V273E	probably damaging	Het
Ccdc125	C	T	13: 100,814,884 (GRCm39)		probably null	Het
Ccdc90b	A	G	7: 92,216,868 (GRCm39)	R47G	possibly damaging	Het
Celsr2	G	T	3: 108,320,806 (GRCm39)	L669I	probably damaging	Het
Clasp1	T	G	1: 118,440,480 (GRCm39)		probably null	Het
Clec4a2	C	T	6: 123,101,974 (GRCm39)	P43L	probably benign	Het
Cntn1	T	C	15: 92,207,890 (GRCm39)	I827T	probably benign	Het
Col9a1	G	T	1: 24,224,243 (GRCm39)	V142F	unknown	Het
Cplane1	T	A	15: 8,252,611 (GRCm39)	D1944E	probably benign	Het
Cts7	G	T	13: 61,504,782 (GRCm39)	Y23*	probably null	Het
Dcdc2a	T	A	13: 25,291,674 (GRCm39)	Y220N	probably damaging	Het
Dennd2b	A	T	7: 109,156,000 (GRCm39)	L250*	probably null	Het
Dmxl1	T	G	18: 50,026,619 (GRCm39)	V1909G	probably benign	Het
Ehd2	G	A	7: 15,691,474 (GRCm39)	P286L	possibly damaging	Het
Elf3	G	T	1: 135,184,244 (GRCm39)	A208E	possibly damaging	Het
Eml5	A	G	12: 98,822,203 (GRCm39)	I775T	probably benign	Het
Ephb1	T	C	9: 101,813,393 (GRCm39)	T791A	probably damaging	Het
Fanci	C	A	7: 79,094,219 (GRCm39)	S1105*	probably null	Het
Fastkd1	T	A	2: 69,527,184 (GRCm39)		probably null	Het
Fat4	A	G	3: 39,064,390 (GRCm39)	E4782G	possibly damaging	Het
Fnta	T	C	8: 26,503,516 (GRCm39)	I90V	probably damaging	Het
Fosl1	C	T	19: 5,500,332 (GRCm39)	R84*	probably null	Het
Gdf2	T	C	14: 33,666,847 (GRCm39)	F190L	probably benign	Het
Gzmn	T	A	14: 56,404,776 (GRCm39)	Q88L	probably damaging	Het
Hat1	T	A	2: 71,240,525 (GRCm39)	L73Q	probably damaging	Het
Hdhd2	G	A	18: 77,031,871 (GRCm39)	G109E	possibly damaging	Het
Il22ra1	A	G	4: 135,460,346 (GRCm39)	N34S	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Kdm6b	T	C	11: 69,291,032 (GRCm39)	N1574S	unknown	Het
Kel	T	C	6: 41,667,742 (GRCm39)	E400G	probably benign	Het
Kif22	G	A	7: 126,632,134 (GRCm39)	T350I	probably damaging	Het
Kif26b	A	G	1: 178,506,839 (GRCm39)	N305S	probably benign	Het
Klk12	A	C	7: 43,419,134 (GRCm39)	Q33P	probably damaging	Het
Klk1b24	G	A	7: 43,841,304 (GRCm39)		probably null	Het
Krtap31-1	T	A	11: 99,799,048 (GRCm39)	C84S	possibly damaging	Het
Ky	T	A	9: 102,414,972 (GRCm39)	S295T	probably benign	Het
Mak	T	A	13: 41,183,586 (GRCm39)	N565Y	probably benign	Het
Mphosph6	T	C	8: 118,528,623 (GRCm39)	T7A	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh11	T	C	16: 14,039,688 (GRCm39)	T814A		Het
Nmbr	T	C	10: 14,636,433 (GRCm39)	L134P	probably damaging	Het
Nup107	C	T	10: 117,606,375 (GRCm39)	V456M	probably damaging	Het
Or56b1b	A	G	7: 108,164,649 (GRCm39)	S118P	possibly damaging	Het
Or8g22	C	A	9: 38,958,638 (GRCm39)	D26Y	probably damaging	Het
Pink1	A	T	4: 138,044,683 (GRCm39)	H351Q	probably damaging	Het
Piwil4	A	T	9: 14,645,711 (GRCm39)		probably null	Het
Pkd1l1	C	A	11: 8,825,758 (GRCm39)	V1498F		Het
Polb	A	G	8: 23,130,443 (GRCm39)	I161T	probably benign	Het
Polg	A	T	7: 79,101,416 (GRCm39)	L1097Q	probably damaging	Het
Prelp	T	C	1: 133,842,356 (GRCm39)	N263S	probably benign	Het
Pten	T	C	19: 32,789,234 (GRCm39)	C211R	probably damaging	Het
Ptprc	G	A	1: 137,995,645 (GRCm39)	A1012V	probably benign	Het
Ptprr	T	A	10: 115,884,133 (GRCm39)	H63Q	probably benign	Het
Rapsn	A	T	2: 90,872,299 (GRCm39)	H211L	possibly damaging	Het
Reln	T	C	5: 22,183,929 (GRCm39)	N1690S	probably benign	Het
Rpap2	A	G	5: 107,768,167 (GRCm39)	E335G	probably benign	Het
Rspry1	T	A	8: 95,385,396 (GRCm39)	S567T	probably benign	Het
Sf3b1	G	A	1: 55,036,302 (GRCm39)	R924*	probably null	Het
Sftpb	G	A	6: 72,286,818 (GRCm39)	E241K	probably benign	Het
Smarca4	G	T	9: 21,566,950 (GRCm39)	A677S	probably benign	Het
Srrm2	G	A	17: 24,038,294 (GRCm39)	R1646Q	unknown	Het
Tex15	T	A	8: 34,064,445 (GRCm39)	C1292S	probably benign	Het
Tmem140	A	G	6: 34,849,708 (GRCm39)	I75V	probably benign	Het
Trhr2	T	A	8: 123,084,061 (GRCm39)	Q313L	possibly damaging	Het
Trim35	A	G	14: 66,534,546 (GRCm39)	T10A	unknown	Het
Ttn	T	C	2: 76,750,124 (GRCm39)	I3642V	probably benign	Het
Ugt1a2	T	C	1: 88,128,507 (GRCm39)	L50P	probably damaging	Het
Unc13a	C	A	8: 72,087,182 (GRCm39)	V1522L	probably benign	Het
Usp33	A	G	3: 152,063,589 (GRCm39)	D21G	possibly damaging	Het
Vmn1r90	G	A	7: 14,295,616 (GRCm39)	Q161*	probably null	Het
Vmn2r117	A	T	17: 23,696,265 (GRCm39)	W381R	probably damaging	Het
Vmn2r16	G	C	5: 109,487,837 (GRCm39)	A237P	probably damaging	Het
Vmn2r74	A	G	7: 85,606,746 (GRCm39)	V200A	probably benign	Het
Yjefn3	C	T	8: 70,340,544 (GRCm39)	V227M	probably damaging	Het
Zfp652	T	C	11: 95,640,914 (GRCm39)	F280L	probably damaging	Het
Zfp748	G	A	13: 67,689,568 (GRCm39)	T564I	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
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
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'- ACAGAAGTTACATCTTGCCATCC -3'
(R):5'- TAATCCTGATGCAGAGGGACC -3'

Sequencing Primer
(F):5'- CGCTCCTTATGTGACAGCAGATG -3'
(R):5'- CAGAGGGACCAGGGAGTCC -3'

Posted On

2019-10-24