Incidental Mutation 'IGL02272:Lpin1'
ID 287218
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 # IGL02272
Quality Score
Status
Chromosome 12
Chromosomal Location 16585670-16696967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16597601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 681 (V681A)
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: V681A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: V681A

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: V681A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: V681A

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 probably damaging
Transcript: ENSMUST00000221230
AA Change: V648A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000221297
AA Change: V681A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221789
Predicted Effect probably damaging
Transcript: ENSMUST00000222989
AA Change: V648A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign 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
IGL02244:Lpin1 APN 12 16,591,770 (GRCm39) missense probably damaging 0.99
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