Incidental Mutation 'R5014:Lpin3'
ID 385412
Institutional Source Beutler Lab
Gene Symbol Lpin3
Ensembl Gene ENSMUSG00000027412
Gene Name lipin 3
Synonyms 9130206L11Rik
MMRRC Submission 042605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5014 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 160722590-160747920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 160746748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 748 (F748L)
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: F738L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: F738L

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 possibly damaging
Transcript: ENSMUST00000109455
AA Change: F707L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: F707L

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: F738L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: F738L

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: F748L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: F748L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124920
Meta Mutation Damage Score 0.5314 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.7%
Validation Efficiency 97% (83/86)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,896 (GRCm39) T1353A probably benign Het
Abca8b A T 11: 109,840,957 (GRCm39) I1072N probably damaging Het
Atp1a2 T C 1: 172,112,438 (GRCm39) T517A probably benign Het
Blk T G 14: 63,617,236 (GRCm39) N257T probably benign Het
Brd4 A T 17: 32,417,372 (GRCm39) probably benign Het
Calr4 C T 4: 109,092,994 (GRCm39) Q25* probably null Het
Cbl T C 9: 44,065,696 (GRCm39) probably null Het
Ccdc30 T G 4: 119,250,824 (GRCm39) H6P possibly damaging Het
Cd101 A C 3: 100,911,139 (GRCm39) Y840D probably damaging Het
Cd68 T A 11: 69,556,165 (GRCm39) N178Y probably damaging Het
Cep350 T C 1: 155,803,952 (GRCm39) T1044A probably benign Het
Cfap46 A G 7: 139,207,291 (GRCm39) V1876A probably benign Het
Clec2g T A 6: 128,925,765 (GRCm39) M58K probably benign Het
Clip1 T C 5: 123,755,793 (GRCm39) E860G probably damaging Het
Col18a1 C T 10: 76,906,794 (GRCm39) probably null Het
Cul7 A G 17: 46,966,868 (GRCm39) *650W probably null Het
Dkk4 C T 8: 23,115,315 (GRCm39) A55V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnai7 T C 6: 145,128,992 (GRCm39) E407G probably damaging Het
Dnase1 C A 16: 3,856,880 (GRCm39) Y170* probably null Het
Dnmt1 A C 9: 20,823,550 (GRCm39) I1019S probably benign Het
Epha6 T A 16: 59,486,942 (GRCm39) H1035L probably benign Het
Fam124b T C 1: 80,177,776 (GRCm39) T408A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Galnt7 T C 8: 57,998,414 (GRCm39) E305G probably damaging Het
Garin1b C T 6: 29,326,723 (GRCm39) probably benign Het
Git1 T A 11: 77,389,821 (GRCm39) V28E probably damaging Het
Gm10010 C T 6: 128,177,556 (GRCm39) noncoding transcript Het
Gm4956 T C 1: 21,363,821 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,193,506 (GRCm39) V349G probably benign Het
Gtsf1l C T 2: 162,929,112 (GRCm39) V124I probably damaging Het
Gucy1b1 C G 3: 81,953,974 (GRCm39) G114A probably benign Het
Hk2 T C 6: 82,720,936 (GRCm39) Q166R possibly damaging Het
Hook2 A G 8: 85,718,006 (GRCm39) I44M probably damaging Het
Ildr1 T A 16: 36,541,921 (GRCm39) M222K probably damaging Het
Ints6 A T 14: 62,997,640 (GRCm39) F55Y probably benign Het
Kcnh1 A G 1: 191,959,388 (GRCm39) N314S probably damaging Het
Lrsam1 T C 2: 32,826,407 (GRCm39) probably benign Het
Msh2 A T 17: 88,025,004 (GRCm39) K627N possibly damaging Het
Myrip A G 9: 120,251,534 (GRCm39) Q219R probably damaging Het
Ndufb3 T A 1: 58,630,401 (GRCm39) W51R probably damaging Het
Nfasc A T 1: 132,512,185 (GRCm39) probably benign Het
Or2c1 T A 16: 3,656,912 (GRCm39) I25N probably benign Het
Or2h2 T A 17: 37,396,446 (GRCm39) I204F probably benign Het
Or8s8 T C 15: 98,354,857 (GRCm39) V222A possibly damaging Het
P3h3 T A 6: 124,832,199 (GRCm39) E229V probably damaging Het
Ppfia2 T A 10: 106,701,224 (GRCm39) L837* probably null Het
Ppp2r1a G A 17: 21,179,101 (GRCm39) probably null Het
Rabgap1 T A 2: 37,377,152 (GRCm39) V328E probably damaging Het
Ralgapb G A 2: 158,337,455 (GRCm39) R1138Q probably damaging Het
Ranbp2 A T 10: 58,299,942 (GRCm39) Q498L probably benign Het
Rbx1 T A 15: 81,355,161 (GRCm39) C56S probably damaging Het
Rcan2 T C 17: 44,328,704 (GRCm39) F45S probably damaging Het
Rgs20 T C 1: 4,980,770 (GRCm39) Y185C probably damaging Het
Rorc T G 3: 94,298,460 (GRCm39) L315R probably damaging Het
Skic2 A G 17: 35,066,401 (GRCm39) V194A probably benign Het
Slc13a2 T C 11: 78,290,987 (GRCm39) K406E possibly damaging Het
Slc35g3 T A 11: 69,651,866 (GRCm39) K62* probably null Het
Sox30 T C 11: 45,882,736 (GRCm39) S589P probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Tecta C T 9: 42,284,538 (GRCm39) C849Y probably damaging Het
Thbs1 T A 2: 117,950,518 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tut4 T C 4: 108,384,043 (GRCm39) probably benign Het
Tyk2 C T 9: 21,027,126 (GRCm39) probably null Het
Tyw5 C A 1: 57,446,004 (GRCm39) probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Wdfy4 A T 14: 32,822,897 (GRCm39) C1401S probably benign Het
Wiz T C 17: 32,578,340 (GRCm39) N391D probably damaging Het
Ylpm1 G A 12: 85,061,523 (GRCm39) E475K unknown Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp184 A G 13: 22,142,594 (GRCm39) D100G probably benign Het
Zfp990 T A 4: 145,264,669 (GRCm39) C556S possibly damaging Het
Zkscan16 C T 4: 58,951,892 (GRCm39) P189L 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
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'- AAGGGCCCCATCTTGCTATC -3'
(R):5'- GAAAACATCCTGCAAGAGGC -3'

Sequencing Primer
(F):5'- TCCGCTCTCCACAGGTAAC -3'
(R):5'- CAGAAAGGGTTAGGGCAGTG -3'
Posted On 2016-05-10