Incidental Mutation 'R6994:Lpin3'
ID 544022
Institutional Source Beutler Lab
Gene Symbol Lpin3
Ensembl Gene ENSMUSG00000027412
Gene Name lipin 3
Synonyms 9130206L11Rik
MMRRC Submission 045100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6994 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 160722590-160747920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 160746803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 766 (P766L)
Ref Sequence ENSEMBL: ENSMUSP00000105083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040872] [ENSMUST00000057169] [ENSMUST00000109454] [ENSMUST00000109455] [ENSMUST00000109456] [ENSMUST00000109457]
AlphaFold Q99PI4
Predicted Effect probably damaging
Transcript: ENSMUST00000040872
AA Change: P756L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: P756L

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: ENSMUST00000057169
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EMI 55 125 7.3e-18 PFAM
low complexity region 144 161 N/A INTRINSIC
low complexity region 281 295 N/A INTRINSIC
low complexity region 359 381 N/A INTRINSIC
low complexity region 451 460 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109454
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EMI 54 127 6.4e-22 PFAM
low complexity region 144 161 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
low complexity region 312 334 N/A INTRINSIC
low complexity region 404 413 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109455
AA Change: P725L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: P725L

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 damaging
Transcript: ENSMUST00000109456
AA Change: P756L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: P756L

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 damaging
Transcript: ENSMUST00000109457
AA Change: P766L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: P766L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (82/85)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T G 4: 144,349,849 (GRCm39) W369G probably damaging Het
Abhd16b C T 2: 181,135,461 (GRCm39) T121M possibly damaging Het
Adam5 A T 8: 25,276,262 (GRCm39) C468* probably null Het
Aim2 C T 1: 173,283,152 (GRCm39) A78V possibly damaging Het
Alg9 G A 9: 50,703,422 (GRCm39) W254* probably null Het
Ankrd55 G C 13: 112,504,834 (GRCm39) E499Q probably benign Het
Atp6v0a2 T C 5: 124,791,209 (GRCm39) F546S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bpi A T 2: 158,100,164 (GRCm39) probably benign Het
Bves A G 10: 45,215,514 (GRCm39) H63R probably benign Het
Ccdc183 T C 2: 25,507,057 (GRCm39) M45V probably benign Het
Cfhr4 T A 1: 139,664,668 (GRCm39) I464L possibly damaging Het
Cmklr1 T C 5: 113,752,983 (GRCm39) Y6C probably damaging Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Ctsm T A 13: 61,687,698 (GRCm39) E53D probably damaging Het
Cyp2a22 A G 7: 26,638,606 (GRCm39) probably null Het
Ddx10 A G 9: 53,115,411 (GRCm39) V641A probably damaging Het
Ddx6 T C 9: 44,540,020 (GRCm39) V316A probably damaging Het
Dhx34 T C 7: 15,937,799 (GRCm39) D767G probably benign Het
Dnaaf6rt T C 1: 31,261,990 (GRCm39) probably benign Het
Dtnbp1 T A 13: 45,155,405 (GRCm39) D15V probably damaging Het
Dtx3l C T 16: 35,751,742 (GRCm39) probably null Het
Entpd8 T C 2: 24,973,321 (GRCm39) I162T probably damaging Het
Fam186a G T 15: 99,840,347 (GRCm39) Q1966K probably benign Het
Fbxo27 A C 7: 28,392,785 (GRCm39) D22A probably damaging Het
Fermt3 A T 19: 6,977,095 (GRCm39) I577N probably damaging Het
Frmd8 A T 19: 5,923,209 (GRCm39) S81T probably damaging Het
Gm5108 T A 5: 68,102,012 (GRCm39) probably benign Het
Gm9195 T C 14: 72,718,271 (GRCm39) Y135C probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Kcnh8 A T 17: 53,284,723 (GRCm39) I898F probably benign Het
Kri1 C T 9: 21,199,083 (GRCm39) probably benign Het
Krt32 T A 11: 99,977,271 (GRCm39) I210F probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Macroh2a1 T C 13: 56,237,643 (GRCm39) N206D probably benign Het
Marf1 T C 16: 13,946,721 (GRCm39) T1169A probably damaging Het
Morc1 G A 16: 48,385,984 (GRCm39) V536M probably benign Het
Morc1 A T 16: 48,438,909 (GRCm39) H768L probably benign Het
Mpped2 T A 2: 106,529,878 (GRCm39) H42Q possibly damaging Het
Nfatc1 G T 18: 80,696,779 (GRCm39) probably null Het
Nfkbid G A 7: 30,125,192 (GRCm39) S263N probably benign Het
Npas3 C A 12: 54,115,576 (GRCm39) Q802K probably damaging Het
Or52s1b T C 7: 102,822,119 (GRCm39) T242A probably damaging Het
Or5ac20 T G 16: 59,104,453 (GRCm39) M136L possibly damaging Het
Or5p67 T A 7: 107,922,101 (GRCm39) I261F possibly damaging Het
Pabpc4l C A 3: 46,401,345 (GRCm39) V100L possibly damaging Het
Pagr1a A G 7: 126,615,613 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,553 (GRCm39) N483K probably damaging Het
Pikfyve C A 1: 65,291,689 (GRCm39) P1303T probably damaging Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Pnkd T A 1: 74,332,335 (GRCm39) probably null Het
Pparg A T 6: 115,428,011 (GRCm39) Q166L probably benign Het
Psenen A G 7: 30,262,932 (GRCm39) probably null Het
Rab4a T C 8: 124,557,105 (GRCm39) S142P probably damaging Het
Reg3a T C 6: 78,358,132 (GRCm39) V21A probably benign Het
Relt A C 7: 100,502,321 (GRCm39) probably benign Het
Rftn1 T A 17: 50,344,019 (GRCm39) T90S possibly damaging Het
Ripor3 T G 2: 167,839,186 (GRCm39) D105A probably damaging Het
Rnase10 T A 14: 51,247,138 (GRCm39) I135N probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rttn A G 18: 89,047,023 (GRCm39) E895G probably damaging Het
Serpina3a G A 12: 104,079,089 (GRCm39) probably null Het
Slco5a1 C T 1: 12,951,617 (GRCm39) C562Y probably damaging Het
Spen T C 4: 141,220,770 (GRCm39) T396A unknown Het
Tgfbr3 A G 5: 107,280,892 (GRCm39) S623P probably damaging Het
Tmem8b A G 4: 43,690,192 (GRCm39) I876V probably damaging Het
Tmod3 T C 9: 75,416,669 (GRCm39) K221R probably damaging Het
Tomm40 G T 7: 19,436,831 (GRCm39) D40E probably damaging Het
Trav6d-4 G T 14: 52,991,048 (GRCm39) G28V probably damaging Het
Trav8d-2 G T 14: 53,279,933 (GRCm39) A17S probably benign Het
Triml2 T C 8: 43,643,115 (GRCm39) C158R possibly damaging Het
Trip10 A G 17: 57,562,331 (GRCm39) E283G probably damaging Het
Tubb2b T C 13: 34,311,518 (GRCm39) Y425C probably damaging Het
Ubr1 T C 2: 120,794,074 (GRCm39) T37A probably benign Het
Unc13b A G 4: 43,171,403 (GRCm39) probably benign Het
Unc13b A G 4: 43,173,203 (GRCm39) probably benign Het
Vcan A T 13: 89,841,526 (GRCm39) D379E possibly damaging Het
Vmn1r44 T A 6: 89,871,140 (GRCm39) H295Q probably benign Het
Vmn2r16 A T 5: 109,487,969 (GRCm39) S281C probably damaging Het
Vmn2r84 C T 10: 130,226,876 (GRCm39) A321T possibly damaging Het
Vsig10l A T 7: 43,114,491 (GRCm39) H271L possibly damaging Het
Vwa8 A T 14: 79,145,596 (GRCm39) H91L possibly damaging Het
Zfp957 T A 14: 79,451,130 (GRCm39) E223V probably damaging 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
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
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'- AAGGGCCCCATCTTGCTATC -3'
(R):5'- TGAAGATTCGGGACTCAGGG -3'

Sequencing Primer
(F):5'- TAGCACACATTTGCCCATGGG -3'
(R):5'- ATCCTGCAAGAGGCAGAA -3'
Posted On 2019-05-13