Incidental Mutation 'R6391:Lpin1'
ID 515777
Institutional Source Beutler Lab
Gene Symbol Lpin1
Ensembl Gene ENSMUSG00000020593
Gene Name lipin 1
Synonyms Lipin1
MMRRC Submission 044540-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R6391 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 16585670-16696967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16614554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 409 (E409G)
Ref Sequence ENSEMBL: ENSMUSP00000152276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067124] [ENSMUST00000111067] [ENSMUST00000221230] [ENSMUST00000221297] [ENSMUST00000222989]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067124
AA Change: E442G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: E442G

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 benign
Transcript: ENSMUST00000111067
AA Change: E442G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: E442G

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: ENSMUST00000221230
AA Change: E409G

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000221297
AA Change: E442G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221789
Predicted Effect probably benign
Transcript: ENSMUST00000222989
AA Change: E409G

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223129
Meta Mutation Damage Score 0.1182 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl7b G T 5: 135,208,879 (GRCm39) S114I probably damaging Het
Cct8 A T 16: 87,284,566 (GRCm39) M207K probably benign Het
Cnga1 A G 5: 72,769,702 (GRCm39) probably null Het
Cst13 T C 2: 148,670,111 (GRCm39) C94R probably damaging Het
Cyp8b1 G T 9: 121,744,864 (GRCm39) S156* probably null Het
Dip2b T C 15: 100,049,157 (GRCm39) S184P probably damaging Het
Dmbt1 T C 7: 130,659,984 (GRCm39) W516R probably damaging Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Drosha T A 15: 12,889,803 (GRCm39) C890* probably null Het
Eed A G 7: 89,626,149 (GRCm39) S75P probably benign Het
Efcab3 T C 11: 104,885,143 (GRCm39) L4134S possibly damaging Het
Etaa1 A C 11: 17,896,833 (GRCm39) I428S probably benign Het
F5 A T 1: 164,021,062 (GRCm39) D1179V probably damaging Het
Fat1 T C 8: 45,405,379 (GRCm39) V710A possibly damaging Het
Fmo4 G A 1: 162,621,538 (GRCm39) Q558* probably null Het
Gm7361 A G 5: 26,463,960 (GRCm39) I72V probably benign Het
Grm4 A G 17: 27,654,294 (GRCm39) V552A probably benign Het
Krt13 T A 11: 100,010,202 (GRCm39) I260F probably damaging Het
Krtap3-3 T C 11: 99,441,490 (GRCm39) D49G probably damaging Het
Ly9 A G 1: 171,428,576 (GRCm39) V238A possibly damaging Het
Map2k6 T C 11: 110,381,703 (GRCm39) probably null Het
Mylk2 T C 2: 152,759,315 (GRCm39) L362P probably damaging Het
Or4c120 T A 2: 89,000,942 (GRCm39) I205F probably benign Het
Or4c3 A G 2: 89,851,975 (GRCm39) V145A probably benign Het
Or51a6 T A 7: 102,604,622 (GRCm39) Y69F possibly damaging Het
Pcdha9 G A 18: 37,130,972 (GRCm39) V14M probably benign Het
Pdzrn4 A T 15: 92,578,418 (GRCm39) E380D probably damaging Het
Piezo2 A G 18: 63,239,364 (GRCm39) Y739H possibly damaging Het
Pigk A G 3: 152,446,486 (GRCm39) H195R probably benign Het
Plin2 T C 4: 86,580,236 (GRCm39) D175G probably null Het
Plk4 T A 3: 40,763,408 (GRCm39) H526Q probably benign Het
Pom121l12 A T 11: 14,549,489 (GRCm39) D65V probably damaging Het
Prb1a T C 6: 132,184,139 (GRCm39) Y498C unknown Het
Sh3bp2 G A 5: 34,718,947 (GRCm39) V495I probably damaging Het
Slx4ip T A 2: 136,888,669 (GRCm39) C117S probably damaging Het
Tmtc2 A T 10: 105,409,551 (GRCm39) S20R probably benign Het
Unc79 A G 12: 102,987,269 (GRCm39) Y186C probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r26 T C 6: 124,038,348 (GRCm39) L641P probably damaging Het
Wdr17 A T 8: 55,114,495 (GRCm39) S674T probably benign Het
Zfp959 T C 17: 56,202,854 (GRCm39) F10L probably 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
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
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'- AACTGGCCCTTCTCAGACTAC -3'
(R):5'- TGCACTTGTTGGCATCTCG -3'

Sequencing Primer
(F):5'- aggaccaccacgattcaa -3'
(R):5'- CATCTCGGTGTGTGGCTCATG -3'
Posted On 2018-05-04