Incidental Mutation 'IGL02244:Lpin1'
ID 286104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpin1
Ensembl Gene ENSMUSG00000020593
Gene Name lipin 1
Synonyms Lipin1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # IGL02244
Quality Score
Status
Chromosome 12
Chromosomal Location 16585670-16696967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16591770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 819 (N819I)
Ref Sequence ENSEMBL: ENSMUSP00000152285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067124] [ENSMUST00000111067] [ENSMUST00000221230] [ENSMUST00000221297] [ENSMUST00000222989]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067124
AA Change: N819I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: N819I

DomainStartEndE-ValueType
Pfam:Lipin_N 1 110 1.1e-48 PFAM
low complexity region 153 161 N/A INTRINSIC
low complexity region 230 242 N/A INTRINSIC
Pfam:Lipin_mid 498 591 9.4e-36 PFAM
low complexity region 630 642 N/A INTRINSIC
LNS2 708 864 3.42e-100 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111067
AA Change: N819I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: N819I

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 2.2e-53 PFAM
low complexity region 153 161 N/A INTRINSIC
low complexity region 237 252 N/A INTRINSIC
low complexity region 597 609 N/A INTRINSIC
LNS2 675 831 3.42e-100 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000221230
AA Change: N786I

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000221297
AA Change: N819I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222989
AA Change: N786I

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
PHENOTYPE: ENU-induced mutants show transient hindlimb paralysis, demyelination and myelin sheath defects. Spontaneous mutants show neonatal fatty liver and hypertriglyceridemia, runting, male sterility, peripheral neuropathy, and altered hair growth, myelination, adipogenesis and lipid and glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Lpin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Lpin1 APN 12 16,603,993 (GRCm39) missense probably benign 0.00
IGL00929:Lpin1 APN 12 16,623,700 (GRCm39) missense probably benign 0.05
IGL01485:Lpin1 APN 12 16,612,358 (GRCm39) splice site probably benign
IGL01750:Lpin1 APN 12 16,627,177 (GRCm39) missense probably benign 0.00
IGL01774:Lpin1 APN 12 16,608,477 (GRCm39) missense probably damaging 0.96
IGL02197:Lpin1 APN 12 16,608,408 (GRCm39) critical splice donor site probably null
IGL02272:Lpin1 APN 12 16,597,601 (GRCm39) missense probably damaging 1.00
IGL03366:Lpin1 APN 12 16,594,678 (GRCm39) missense probably damaging 1.00
lipin UTSW 12 16,597,500 (GRCm39) missense probably damaging 1.00
R0044:Lpin1 UTSW 12 16,618,530 (GRCm39) splice site probably benign
R0106:Lpin1 UTSW 12 16,590,980 (GRCm39) missense possibly damaging 0.88
R0106:Lpin1 UTSW 12 16,590,980 (GRCm39) missense possibly damaging 0.88
R0676:Lpin1 UTSW 12 16,590,980 (GRCm39) missense possibly damaging 0.88
R1119:Lpin1 UTSW 12 16,613,722 (GRCm39) missense probably damaging 1.00
R1570:Lpin1 UTSW 12 16,610,999 (GRCm39) missense possibly damaging 0.94
R1611:Lpin1 UTSW 12 16,627,219 (GRCm39) missense probably null 0.64
R1646:Lpin1 UTSW 12 16,623,659 (GRCm39) critical splice donor site probably null
R1756:Lpin1 UTSW 12 16,588,541 (GRCm39) missense probably damaging 0.99
R1870:Lpin1 UTSW 12 16,591,744 (GRCm39) missense probably damaging 1.00
R1912:Lpin1 UTSW 12 16,596,728 (GRCm39) missense probably damaging 0.96
R1971:Lpin1 UTSW 12 16,630,724 (GRCm39) missense probably damaging 1.00
R2484:Lpin1 UTSW 12 16,597,500 (GRCm39) missense probably damaging 1.00
R2901:Lpin1 UTSW 12 16,603,999 (GRCm39) missense probably benign
R3195:Lpin1 UTSW 12 16,615,584 (GRCm39) missense possibly damaging 0.91
R3779:Lpin1 UTSW 12 16,614,569 (GRCm39) missense probably damaging 0.96
R3918:Lpin1 UTSW 12 16,621,190 (GRCm39) missense probably benign 0.00
R4532:Lpin1 UTSW 12 16,603,963 (GRCm39) missense probably benign 0.01
R4857:Lpin1 UTSW 12 16,613,631 (GRCm39) missense possibly damaging 0.86
R4882:Lpin1 UTSW 12 16,588,537 (GRCm39) missense probably damaging 1.00
R5024:Lpin1 UTSW 12 16,604,007 (GRCm39) missense probably benign 0.38
R5084:Lpin1 UTSW 12 16,626,983 (GRCm39) missense probably damaging 1.00
R5108:Lpin1 UTSW 12 16,623,716 (GRCm39) missense probably benign 0.39
R5191:Lpin1 UTSW 12 16,630,829 (GRCm39) missense possibly damaging 0.95
R5377:Lpin1 UTSW 12 16,613,656 (GRCm39) missense probably damaging 1.00
R5587:Lpin1 UTSW 12 16,623,715 (GRCm39) missense
R5659:Lpin1 UTSW 12 16,590,990 (GRCm39) missense probably damaging 1.00
R5924:Lpin1 UTSW 12 16,594,658 (GRCm39) missense possibly damaging 0.91
R6391:Lpin1 UTSW 12 16,614,554 (GRCm39) missense probably benign 0.29
R6746:Lpin1 UTSW 12 16,615,529 (GRCm39) missense probably benign
R6799:Lpin1 UTSW 12 16,611,045 (GRCm39) missense probably damaging 1.00
R6969:Lpin1 UTSW 12 16,630,862 (GRCm39) missense probably damaging 0.99
R7557:Lpin1 UTSW 12 16,630,793 (GRCm39) missense
R7884:Lpin1 UTSW 12 16,612,370 (GRCm39) missense
R8049:Lpin1 UTSW 12 16,613,685 (GRCm39) missense
R8130:Lpin1 UTSW 12 16,629,965 (GRCm39) missense
R8190:Lpin1 UTSW 12 16,599,003 (GRCm39) missense
R8434:Lpin1 UTSW 12 16,613,621 (GRCm39) critical splice donor site probably null
R8691:Lpin1 UTSW 12 16,623,660 (GRCm39) critical splice donor site probably benign
R9077:Lpin1 UTSW 12 16,591,747 (GRCm39) missense
R9085:Lpin1 UTSW 12 16,623,715 (GRCm39) missense
R9209:Lpin1 UTSW 12 16,588,548 (GRCm39) missense
R9227:Lpin1 UTSW 12 16,588,483 (GRCm39) missense unknown
R9230:Lpin1 UTSW 12 16,588,483 (GRCm39) missense unknown
R9799:Lpin1 UTSW 12 16,612,400 (GRCm39) missense
Z1177:Lpin1 UTSW 12 16,629,948 (GRCm39) missense
Posted On 2015-04-16