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
Is this an essential gene? Possibly non essential (E-score: 0.418) question?
Stock # IGL02272
Quality Score
Status
Chromosome 12
Chromosomal Location 16535669-16610966 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16547600 bp (GRCm38)
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: 57,450,021 C759* probably null Het
Adgrg6 T A 10: 14,468,829 M127L probably damaging Het
AI314180 A T 4: 58,811,731 N1439K probably benign Het
Anxa9 A G 3: 95,305,894 V47A probably benign Het
Arhgef12 T A 9: 43,001,452 D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 probably benign Het
Ccdc169 A G 3: 55,150,748 E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 probably null Het
Cntnap1 G A 11: 101,178,316 V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 V852E probably damaging Het
Csmd1 A T 8: 16,199,893 S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 probably benign Het
Dusp6 T A 10: 99,266,019 V289D probably damaging Het
Epha6 C T 16: 59,818,937 R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 V152E probably benign Het
Hmces A G 6: 87,917,855 probably null Het
Hsph1 A G 5: 149,617,530 S852P probably benign Het
Kat6b A C 14: 21,626,778 K394Q probably damaging Het
Kdr G A 5: 75,961,840 T475I probably benign Het
Klhl25 A G 7: 75,866,620 T425A probably benign Het
Klk1b8 T A 7: 43,952,793 C50S probably damaging Het
Kri1 T C 9: 21,276,168 Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 S953P probably benign Het
Lpin3 A G 2: 160,901,661 T508A probably benign Het
Moxd1 T A 10: 24,282,700 Y417* probably null Het
Mthfd1l T G 10: 4,041,812 I588S probably damaging Het
Myo5c C A 9: 75,266,160 N543K possibly damaging Het
Myo9a T A 9: 59,884,600 probably benign Het
Nme8 T C 13: 19,658,826 Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 N249T probably damaging Het
Pex11g A G 8: 3,465,898 V45A probably benign Het
Pkhd1 C A 1: 20,209,260 G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 V353A probably damaging Het
Prss16 T A 13: 22,003,035 Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 V524E probably damaging Het
Rap1gap A G 4: 137,716,566 Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 L598F probably damaging Het
Sardh T G 2: 27,224,991 D550A probably benign Het
Serpinc1 T G 1: 160,999,992 I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 T196S probably damaging Het
Slc25a46 T C 18: 31,583,568 T294A probably benign Het
Srrm2 T C 17: 23,815,782 probably benign Het
Steap2 T A 5: 5,677,612 N241I probably benign Het
Tcaf3 T C 6: 42,596,660 Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 Q52K possibly damaging Het
Ttn A G 2: 76,735,028 V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 S99R probably benign Het
Ubxn2b A T 4: 6,216,071 K331N probably damaging Het
Usp50 G A 2: 126,769,944 T232I probably damaging Het
Vmn2r116 G A 17: 23,385,999 M95I probably benign Het
Vmn2r116 T A 17: 23,386,004 L97Q probably damaging Het
Vmn2r24 A T 6: 123,786,884 N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 R383G probably benign Het
Other mutations in Lpin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Lpin1 APN 12 16553992 missense probably benign 0.00
IGL00929:Lpin1 APN 12 16573699 missense probably benign 0.05
IGL01485:Lpin1 APN 12 16562357 splice site probably benign
IGL01750:Lpin1 APN 12 16577176 missense probably benign 0.00
IGL01774:Lpin1 APN 12 16558476 missense probably damaging 0.96
IGL02197:Lpin1 APN 12 16558407 critical splice donor site probably null
IGL02244:Lpin1 APN 12 16541769 missense probably damaging 0.99
IGL03366:Lpin1 APN 12 16544677 missense probably damaging 1.00
lipin UTSW 12 16547499 missense probably damaging 1.00
R0044:Lpin1 UTSW 12 16568529 splice site probably benign
R0106:Lpin1 UTSW 12 16540979 missense possibly damaging 0.88
R0106:Lpin1 UTSW 12 16540979 missense possibly damaging 0.88
R0676:Lpin1 UTSW 12 16540979 missense possibly damaging 0.88
R1119:Lpin1 UTSW 12 16563721 missense probably damaging 1.00
R1570:Lpin1 UTSW 12 16560998 missense possibly damaging 0.94
R1611:Lpin1 UTSW 12 16577218 missense probably null 0.64
R1646:Lpin1 UTSW 12 16573658 critical splice donor site probably null
R1756:Lpin1 UTSW 12 16538540 missense probably damaging 0.99
R1870:Lpin1 UTSW 12 16541743 missense probably damaging 1.00
R1912:Lpin1 UTSW 12 16546727 missense probably damaging 0.96
R1971:Lpin1 UTSW 12 16580723 missense probably damaging 1.00
R2484:Lpin1 UTSW 12 16547499 missense probably damaging 1.00
R2901:Lpin1 UTSW 12 16553998 missense probably benign
R3195:Lpin1 UTSW 12 16565583 missense possibly damaging 0.91
R3779:Lpin1 UTSW 12 16564568 missense probably damaging 0.96
R3918:Lpin1 UTSW 12 16571189 missense probably benign 0.00
R4532:Lpin1 UTSW 12 16553962 missense probably benign 0.01
R4857:Lpin1 UTSW 12 16563630 missense possibly damaging 0.86
R4882:Lpin1 UTSW 12 16538536 missense probably damaging 1.00
R5024:Lpin1 UTSW 12 16554006 missense probably benign 0.38
R5084:Lpin1 UTSW 12 16576982 missense probably damaging 1.00
R5108:Lpin1 UTSW 12 16573715 missense probably benign 0.39
R5191:Lpin1 UTSW 12 16580828 missense possibly damaging 0.95
R5377:Lpin1 UTSW 12 16563655 missense probably damaging 1.00
R5587:Lpin1 UTSW 12 16573714 missense
R5659:Lpin1 UTSW 12 16540989 missense probably damaging 1.00
R5924:Lpin1 UTSW 12 16544657 missense possibly damaging 0.91
R6391:Lpin1 UTSW 12 16564553 missense probably benign 0.29
R6746:Lpin1 UTSW 12 16565528 missense probably benign
R6799:Lpin1 UTSW 12 16561044 missense probably damaging 1.00
R6969:Lpin1 UTSW 12 16580861 missense probably damaging 0.99
R7557:Lpin1 UTSW 12 16580792 missense
R7884:Lpin1 UTSW 12 16562369 missense
R8049:Lpin1 UTSW 12 16563684 missense
R8130:Lpin1 UTSW 12 16579964 missense
R8190:Lpin1 UTSW 12 16549002 missense
R8434:Lpin1 UTSW 12 16563620 critical splice donor site probably null
R8691:Lpin1 UTSW 12 16573659 critical splice donor site probably benign
R9077:Lpin1 UTSW 12 16541746 missense
R9085:Lpin1 UTSW 12 16573714 missense
R9209:Lpin1 UTSW 12 16538547 missense
R9227:Lpin1 UTSW 12 16538482 missense unknown
R9230:Lpin1 UTSW 12 16538482 missense unknown
Z1177:Lpin1 UTSW 12 16579947 missense
Posted On 2015-04-16