Incidental Mutation 'R5587:Lpin1'
ID 438839
Institutional Source Beutler Lab
Gene Symbol Lpin1
Ensembl Gene ENSMUSG00000020593
Gene Name lipin 1
Synonyms Lipin1
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 16585670-16696967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16623715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 223 (Y223C)
Ref Sequence ENSEMBL: ENSMUSP00000152285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067124] [ENSMUST00000111067] [ENSMUST00000221146] [ENSMUST00000221230] [ENSMUST00000221297] [ENSMUST00000222989]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: Y223C

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
SMART Domains Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: Y223C

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 benign
Transcript: ENSMUST00000221146
Predicted Effect possibly damaging
Transcript: ENSMUST00000221230
AA Change: Y223C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000222989
AA Change: Y223C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1169 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,170 (GRCm39) R120G probably benign Het
Acad11 A G 9: 103,940,966 (GRCm39) T3A probably benign Het
Adamts18 G A 8: 114,501,992 (GRCm39) Q290* probably null Het
Ahnak A G 19: 8,986,840 (GRCm39) D2708G possibly damaging Het
Asxl3 T A 18: 22,658,304 (GRCm39) C2105S probably benign Het
Atp8b1 A T 18: 64,672,281 (GRCm39) F1028I probably damaging Het
Axdnd1 C G 1: 156,178,982 (GRCm39) W615C probably damaging Het
Bcl3 A T 7: 19,543,559 (GRCm39) Y10* probably null Het
Bmp2 T A 2: 133,396,566 (GRCm39) V74E possibly damaging Het
Ccdc121 G T 5: 31,643,428 (GRCm39) G53W probably benign Het
Ccdc78 C A 17: 26,005,651 (GRCm39) P21Q probably benign Het
Cluap1 T A 16: 3,733,348 (GRCm39) V199E probably damaging Het
Cntnap3 T C 13: 64,894,552 (GRCm39) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm39) W1330R unknown Het
Coq4 A G 2: 29,685,526 (GRCm39) probably null Het
Cwf19l1 G A 19: 44,109,316 (GRCm39) T346I possibly damaging Het
Cyct T C 2: 76,184,547 (GRCm39) Y68C probably damaging Het
Dnah10 T C 5: 124,870,977 (GRCm39) L2368P probably benign Het
Dnah2 A T 11: 69,328,068 (GRCm39) F3346I probably damaging Het
Dpp3 A T 19: 4,968,295 (GRCm39) V259E probably damaging Het
Dpyd A C 3: 118,858,600 (GRCm39) S605R probably damaging Het
Emc1 A G 4: 139,089,459 (GRCm39) E209G probably damaging Het
Esrra A G 19: 6,897,575 (GRCm39) S61P probably benign Het
Garin2 C A 12: 78,761,849 (GRCm39) P171H probably damaging Het
Gbx2 T A 1: 89,860,844 (GRCm39) probably benign Het
Hepacam A G 9: 37,295,980 (GRCm39) H377R probably damaging Het
Igkv12-46 T C 6: 69,741,534 (GRCm39) Y107C probably damaging Het
Intu A G 3: 40,629,738 (GRCm39) D356G probably damaging Het
Izumo4 A T 10: 80,539,054 (GRCm39) N113Y probably damaging Het
Krt86 G A 15: 101,371,474 (GRCm39) A15T probably benign Het
Lhx8 A T 3: 154,017,316 (GRCm39) S275R probably damaging Het
Lingo3 A T 10: 80,671,364 (GRCm39) S189T probably damaging Het
Llgl1 T A 11: 60,601,168 (GRCm39) M702K probably benign Het
Lrit3 G T 3: 129,582,547 (GRCm39) A359E probably benign Het
Lrp2 T C 2: 69,329,607 (GRCm39) E1720G probably benign Het
Mcub A C 3: 129,710,619 (GRCm39) V271G probably benign Het
Nktr C T 9: 121,577,555 (GRCm39) probably benign Het
Or10g9 A T 9: 39,911,917 (GRCm39) I202N possibly damaging Het
Or13p4 T A 4: 118,547,067 (GRCm39) D194V probably damaging Het
Or1j18 A T 2: 36,624,633 (GRCm39) Q100L probably damaging Het
Or4d5 A T 9: 40,012,540 (GRCm39) L82Q probably damaging Het
Or52z12 T A 7: 103,233,738 (GRCm39) Y170N probably benign Het
Or9i1 G A 19: 13,839,940 (GRCm39) R261H probably damaging Het
Pcdha4 T C 18: 37,087,875 (GRCm39) V686A probably benign Het
Pelo A G 13: 115,226,409 (GRCm39) V16A possibly damaging Het
Plcd1 A G 9: 118,902,900 (GRCm39) S539P probably benign Het
Prss1 A G 6: 41,440,199 (GRCm39) I179V possibly damaging Het
Ptgs2 T C 1: 149,981,306 (GRCm39) Y530H probably damaging Het
Rai1 T C 11: 60,080,685 (GRCm39) V1583A probably damaging Het
Raph1 T G 1: 60,537,632 (GRCm39) D508A probably damaging Het
Rmnd5a A G 6: 71,371,603 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,328 (GRCm39) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm39) I1323M possibly damaging Het
Scn1a T C 2: 66,103,425 (GRCm39) N1934S probably benign Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sh3glb2 A G 2: 30,244,863 (GRCm39) probably null Het
Sis A G 3: 72,821,909 (GRCm39) I1384T possibly damaging Het
Spata31d1a A C 13: 59,850,432 (GRCm39) C565W probably damaging Het
Srbd1 T A 17: 86,435,229 (GRCm39) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm39) H345R unknown Het
Suox A T 10: 128,507,694 (GRCm39) D111E probably damaging Het
Taar7a A T 10: 23,868,726 (GRCm39) F218L probably benign Het
Tfcp2l1 C A 1: 118,592,492 (GRCm39) N288K possibly damaging Het
Tmem128 G T 5: 38,417,765 (GRCm39) R7L possibly damaging Het
Tmem266 A G 9: 55,344,850 (GRCm39) N494S probably damaging Het
Tmprss3 T A 17: 31,412,966 (GRCm39) H80L probably benign Het
Tnrc6c C T 11: 117,640,097 (GRCm39) Q1211* probably null Het
Tns1 T A 1: 73,959,755 (GRCm39) D1671V possibly damaging Het
Trmt1l T A 1: 151,311,455 (GRCm39) probably benign Het
Tshz2 A T 2: 169,726,262 (GRCm39) D286V probably damaging Het
Ttyh2 A G 11: 114,566,485 (GRCm39) E39G probably benign Het
Vmn2r125 G A 4: 156,702,433 (GRCm39) C73Y probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r61 T C 7: 41,949,911 (GRCm39) F777S probably damaging Het
Vmn2r9 T C 5: 108,995,427 (GRCm39) E407G probably damaging Het
Vwa3a A G 7: 120,379,458 (GRCm39) N521S probably damaging Het
Zan C G 5: 137,390,024 (GRCm39) S4816T unknown Het
Zc3h7b T C 15: 81,656,059 (GRCm39) Y136H possibly damaging Het
Zfp101 T C 17: 33,600,295 (GRCm39) K487R 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
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
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
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'- CAATTCAGCGCAGGTCTGAG -3'
(R):5'- AGGACATGCTAATTAGTGAGGTCC -3'

Sequencing Primer
(F):5'- CGCAGGTCTGAGATTCATTTGCC -3'
(R):5'- ATTAGTGAGGTCCTTAGATGTAAGC -3'
Posted On 2016-10-26