Incidental Mutation 'R1870:Lpin1'
ID 210679
Institutional Source Beutler Lab
Gene Symbol Lpin1
Ensembl Gene ENSMUSG00000020593
Gene Name lipin 1
Synonyms Lipin1
MMRRC Submission 039892-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R1870 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 16585670-16696967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16591744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 828 (F828L)
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: F828L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: F828L

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: F828L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: F828L

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: F795L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000221297
AA Change: F828L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000222989
AA Change: F795L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.8744 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 97% (96/99)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abca5 C A 11: 110,220,043 (GRCm39) V8L probably benign Het
Abcc8 C T 7: 45,773,339 (GRCm39) E797K probably benign Het
Acd C A 8: 106,425,039 (GRCm39) probably null Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Antxr2 A T 5: 98,178,297 (GRCm39) S38T probably damaging Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Bcan T C 3: 87,902,908 (GRCm39) Y290C probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Catsper3 A C 13: 55,953,561 (GRCm39) D224A probably damaging Het
Ccar2 A G 14: 70,377,946 (GRCm39) S680P probably damaging Het
Ccdc18 A G 5: 108,368,703 (GRCm39) H1275R possibly damaging Het
Ccdc40 T C 11: 119,150,730 (GRCm39) M1011T possibly damaging Het
Cfap46 T A 7: 139,263,386 (GRCm39) D17V probably damaging Het
Csn1s2a T C 5: 87,926,058 (GRCm39) F45L probably benign Het
Cwf19l2 T G 9: 3,458,802 (GRCm39) N750K possibly damaging Het
Cyb5r4 A G 9: 86,922,462 (GRCm39) D157G probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dennd4a C T 9: 64,804,516 (GRCm39) A1285V probably benign Het
Dlat A G 9: 50,548,874 (GRCm39) S561P probably damaging Het
Dlgap2 T A 8: 14,823,347 (GRCm39) V522E probably damaging Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Dnase2a T C 8: 85,635,392 (GRCm39) probably benign Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fam83f T C 15: 80,574,113 (GRCm39) probably benign Het
Firrm G A 1: 163,792,363 (GRCm39) L545F probably damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Galk2 T C 2: 125,817,183 (GRCm39) L324P probably benign Het
Gdpd4 G A 7: 97,622,162 (GRCm39) V214I probably benign Het
Gfra3 C T 18: 34,844,373 (GRCm39) A56T probably damaging Het
Glyctk A G 9: 106,032,547 (GRCm39) S489P probably damaging Het
Izumo4 A T 10: 80,539,569 (GRCm39) I135F probably damaging Het
Krt87 T A 15: 101,385,071 (GRCm39) T342S probably benign Het
L1td1 T A 4: 98,625,714 (GRCm39) D636E possibly damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,511,431 (GRCm39) D179G unknown Het
Mdn1 T A 4: 32,763,339 (GRCm39) D5146E probably damaging Het
Megf10 T A 18: 57,324,257 (GRCm39) Y99* probably null Het
Men1 A G 19: 6,387,660 (GRCm39) D285G probably damaging Het
Mertk T G 2: 128,643,116 (GRCm39) D838E probably benign Het
Mta1 T C 12: 113,091,694 (GRCm39) S266P possibly damaging Het
Mta3 G A 17: 84,089,397 (GRCm39) V320M probably damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Or2m12 A T 16: 19,105,357 (GRCm39) N45K probably damaging Het
Or51e1 T C 7: 102,358,961 (GRCm39) I165T possibly damaging Het
Or8b38 A T 9: 37,972,646 (GRCm39) K10I probably benign Het
Or8d6 T G 9: 39,854,117 (GRCm39) I187R probably damaging Het
Pbrm1 T A 14: 30,828,132 (GRCm39) L1320I probably damaging Het
Pdzd2 G T 15: 12,457,972 (GRCm39) T297K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Pik3c3 T C 18: 30,426,185 (GRCm39) probably null Het
Pira2 T C 7: 3,847,452 (GRCm39) N79S probably damaging Het
Pkdrej G T 15: 85,700,632 (GRCm39) T1768K probably damaging Het
Plcb3 T C 19: 6,940,353 (GRCm39) I439V probably benign Het
Pold4 T A 19: 4,282,593 (GRCm39) Y58* probably null Het
Ppef2 T G 5: 92,398,371 (GRCm39) Q49P probably damaging Het
Ralgapa1 T A 12: 55,723,817 (GRCm39) I2026F possibly damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf139 T C 15: 58,771,202 (GRCm39) V409A probably benign Het
Rnpc3 T C 3: 113,404,704 (GRCm39) probably benign Het
S100a10 A T 3: 93,468,377 (GRCm39) E36V probably benign Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scaper T A 9: 55,593,222 (GRCm39) I472F probably damaging Het
Sgcg G A 14: 61,477,896 (GRCm39) probably benign Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Shoc1 G A 4: 59,054,142 (GRCm39) probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slc41a2 G A 10: 83,137,029 (GRCm39) Q293* probably null Het
Slc4a7 T C 14: 14,737,509 (GRCm38) probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Ssr2 T C 3: 88,483,949 (GRCm39) probably benign Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Tnfrsf9 T A 4: 151,018,804 (GRCm39) C158* probably null Het
Tradd T C 8: 105,985,792 (GRCm39) E253G possibly damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r27 T C 6: 124,201,170 (GRCm39) I262M probably benign Het
Vps13a A G 19: 16,737,316 (GRCm39) V91A probably damaging Het
Vwf C T 6: 125,619,902 (GRCm39) R1527C probably damaging Het
Wwc1 C T 11: 35,752,772 (GRCm39) G763D probably damaging Het
Zfp526 T G 7: 24,924,594 (GRCm39) D284E possibly damaging Het
Zfp646 T C 7: 127,483,021 (GRCm39) F1733L possibly damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zkscan4 A G 13: 21,668,104 (GRCm39) E185G 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCAAAGAAGACCAGAGGCC -3'
(R):5'- TTTCCTGACAGTTGGGCCAAC -3'

Sequencing Primer
(F):5'- GGCCACACCTGATGGGATTTAATC -3'
(R):5'- TCTGGGGAATACACTCAGGTAGTCC -3'
Posted On 2014-06-30