Incidental Mutation 'R1110:Lpin3'
ID 96562
Institutional Source Beutler Lab
Gene Symbol Lpin3
Ensembl Gene ENSMUSG00000027412
Gene Name lipin 3
Synonyms 9130206L11Rik
MMRRC Submission 039183-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1110 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 160722590-160747920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160735999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 93 (D93G)
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: D93G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: D93G

DomainStartEndE-ValueType
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: D93G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: D93G

DomainStartEndE-ValueType
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: D93G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: D93G

DomainStartEndE-ValueType
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: D93G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: D93G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T A 4: 155,989,856 (GRCm39) probably null Het
Acp2 A G 2: 91,038,767 (GRCm39) probably null Het
Akap13 T G 7: 75,261,125 (GRCm39) S447A possibly damaging Het
Alk G A 17: 72,291,740 (GRCm39) probably benign Het
Arhgef39 T C 4: 43,496,834 (GRCm39) T327A probably benign Het
Calhm5 T G 10: 33,972,013 (GRCm39) I141L probably benign Het
Cdan1 G A 2: 120,551,083 (GRCm39) A1103V probably damaging Het
Cdh18 A G 15: 23,474,403 (GRCm39) T758A probably benign Het
Cdk17 T A 10: 93,074,895 (GRCm39) Y3* probably null Het
Cdon T C 9: 35,367,733 (GRCm39) probably benign Het
Cntn3 T A 6: 102,222,119 (GRCm39) N460I probably benign Het
Cntrl T A 2: 35,050,639 (GRCm39) C985S possibly damaging Het
Col6a2 T C 10: 76,443,574 (GRCm39) E497G probably benign Het
Crybg1 A G 10: 43,875,089 (GRCm39) M673T possibly damaging Het
Cyp2u1 A G 3: 131,087,258 (GRCm39) I441T possibly damaging Het
Disp2 T C 2: 118,620,920 (GRCm39) S551P probably damaging Het
Dock2 A T 11: 34,206,535 (GRCm39) F1354I possibly damaging Het
Dstyk A G 1: 132,381,063 (GRCm39) probably benign Het
Dzip1 T C 14: 119,126,717 (GRCm39) N527S probably benign Het
Eomes A G 9: 118,313,667 (GRCm39) I571V probably benign Het
Fbxl13 T C 5: 21,689,034 (GRCm39) D758G probably benign Het
Frem1 T C 4: 82,868,557 (GRCm39) S1457G probably damaging Het
Gabbr2 C T 4: 46,718,838 (GRCm39) C613Y probably damaging Het
Gm9755 A T 8: 67,967,710 (GRCm39) noncoding transcript Het
Hnrnpul2 A G 19: 8,804,110 (GRCm39) R570G probably damaging Het
Ift70a1 A T 2: 75,810,320 (GRCm39) C588S probably damaging Het
Igdcc4 A G 9: 65,034,208 (GRCm39) H674R possibly damaging Het
Kdm5d T A Y: 910,539 (GRCm39) L250H probably damaging Het
Kif1a T C 1: 92,951,175 (GRCm39) probably benign Het
Kmt2c T C 5: 25,519,360 (GRCm39) N2250S probably benign Het
Kmt2e C T 5: 23,707,653 (GRCm39) H1739Y probably damaging Het
Lmtk3 T A 7: 45,444,427 (GRCm39) probably benign Het
Myh10 T C 11: 68,682,676 (GRCm39) probably benign Het
Myom2 G A 8: 15,172,413 (GRCm39) E1171K probably benign Het
Ncoa6 A T 2: 155,253,440 (GRCm39) probably benign Het
Nup160 A G 2: 90,563,563 (GRCm39) probably benign Het
Oit3 G A 10: 59,264,016 (GRCm39) R373C probably damaging Het
Olfml2a A T 2: 38,849,765 (GRCm39) I494L probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or9r7 A G 10: 129,962,522 (GRCm39) Y135H probably damaging Het
Parp6 G T 9: 59,556,847 (GRCm39) C584F probably damaging Het
Pcgf2 A G 11: 97,582,676 (GRCm39) probably benign Het
Pde3a T C 6: 141,405,042 (GRCm39) probably benign Het
Pibf1 C T 14: 99,350,409 (GRCm39) R186C probably damaging Het
Pitrm1 A G 13: 6,608,280 (GRCm39) D335G probably benign Het
Pkp4 T C 2: 59,169,109 (GRCm39) L752P probably damaging Het
Plcb3 C A 19: 6,939,281 (GRCm39) E566* probably null Het
Prune2 T C 19: 17,102,586 (GRCm39) S2582P probably benign Het
Reln A T 5: 22,239,773 (GRCm39) D831E probably benign Het
Samd9l T A 6: 3,374,267 (GRCm39) D998V probably benign Het
Sardh G A 2: 27,081,931 (GRCm39) T865I possibly damaging Het
Setbp1 G A 18: 78,901,075 (GRCm39) T864I probably damaging Het
Slc9a1 T A 4: 133,097,859 (GRCm39) M2K probably benign Het
Sorbs2 A G 8: 46,248,767 (GRCm39) T593A probably benign Het
Spata31e3 A T 13: 50,402,296 (GRCm39) D83E possibly damaging Het
Svs5 A T 2: 164,175,507 (GRCm39) I120L probably benign Het
Tcl1b1 G T 12: 105,126,074 (GRCm39) V19F probably damaging Het
Urgcp T C 11: 5,666,004 (GRCm39) N778S probably benign Het
Vnn1 A T 10: 23,775,499 (GRCm39) I250F possibly damaging Het
Xntrpc A G 7: 101,732,181 (GRCm39) R365G possibly damaging Het
Zfp84 T A 7: 29,470,797 (GRCm39) M1K probably null Het
Zfyve26 G A 12: 79,326,841 (GRCm39) R761C probably damaging Het
Zp3r A G 1: 130,505,621 (GRCm39) probably null Het
Other mutations in Lpin3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGACCTCGTGATGAGCAAAAGTCC -3'
(R):5'- CCAATAGCTCAGAGCATCAGTGCAG -3'

Sequencing Primer
(F):5'- GTCCACTGACATCTGGAGAG -3'
(R):5'- tcaccctcccccaaccc -3'
Posted On 2014-01-05