Incidental Mutation 'R8888:Lipi'
ID 677520
Institutional Source Beutler Lab
Gene Symbol Lipi
Ensembl Gene ENSMUSG00000032948
Gene Name lipase, member I
Synonyms D930038D03Rik, lpd1
MMRRC Submission 068692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8888 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 75337402-75382949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75352710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 376 (L376I)
Ref Sequence ENSEMBL: ENSMUSP00000053447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062721]
AlphaFold F6YQT7
Predicted Effect probably benign
Transcript: ENSMUST00000062721
AA Change: L376I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit postnatal lethality, tremors, abnormal gait, decreased body weight, retarded hair growth, and a defect in triglyceride metabolism resulting in hypertriglyceridemia and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 A G 4: 116,498,260 (GRCm39) L95P probably damaging Het
Amigo2 G T 15: 97,143,389 (GRCm39) N344K probably damaging Het
Ankrd11 T C 8: 123,621,014 (GRCm39) D946G possibly damaging Het
Ankrd12 T C 17: 66,338,568 (GRCm39) probably null Het
Atp8b5 A G 4: 43,304,687 (GRCm39) N66S Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Birc6 G A 17: 74,835,533 (GRCm39) S24N probably null Het
Bzw2 A T 12: 36,173,982 (GRCm39) C97* probably null Het
Capn12 T A 7: 28,585,949 (GRCm39) probably benign Het
Cdh1 T A 8: 107,330,971 (GRCm39) F34Y probably damaging Het
Cdh5 T C 8: 104,852,092 (GRCm39) I69T possibly damaging Het
Celsr2 G A 3: 108,320,880 (GRCm39) T644I possibly damaging Het
Cep85l A T 10: 53,224,911 (GRCm39) L226Q possibly damaging Het
Clasp2 T A 9: 113,732,936 (GRCm39) M924K possibly damaging Het
Col3a1 G A 1: 45,379,139 (GRCm39) A850T unknown Het
Cped1 C T 6: 22,016,962 (GRCm39) P104S possibly damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyp2c69 T C 19: 39,869,910 (GRCm39) D104G possibly damaging Het
Daw1 T A 1: 83,187,011 (GRCm39) C274S probably damaging Het
Dmtn T C 14: 70,850,144 (GRCm39) T267A probably benign Het
Dock5 A G 14: 68,055,112 (GRCm39) Y585H possibly damaging Het
Dop1a A G 9: 86,403,587 (GRCm39) I132V probably benign Het
Dpysl5 C T 5: 30,902,687 (GRCm39) R40C probably benign Het
Dsg2 T G 18: 20,723,126 (GRCm39) V384G probably damaging Het
Elmo1 C T 13: 20,748,630 (GRCm39) L492F probably damaging Het
Epg5 C A 18: 78,056,086 (GRCm39) D1753E possibly damaging Het
Ext1 T C 15: 52,955,723 (GRCm39) Y458C probably damaging Het
Folr2 C T 7: 101,489,408 (GRCm39) V244M unknown Het
Frmd6 C A 12: 70,940,646 (GRCm39) H430Q possibly damaging Het
Galnt18 T C 7: 111,378,709 (GRCm39) I16V possibly damaging Het
Gm10036 C A 18: 15,966,207 (GRCm39) Y119* probably null Het
Gria4 A G 9: 4,664,951 (GRCm39) S102P probably damaging Het
Hc A T 2: 34,890,861 (GRCm39) N1318K probably benign Het
Htr2a C T 14: 74,882,617 (GRCm39) T201I possibly damaging Het
Ifitm1 T C 7: 140,549,499 (GRCm39) L94P probably damaging Het
Iqca1l T C 5: 24,755,628 (GRCm39) D298G probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank4 C T 4: 98,653,747 (GRCm39) V894I possibly damaging Het
Kcnip2 T A 19: 45,785,100 (GRCm39) probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Lamb1 A G 12: 31,352,953 (GRCm39) T885A possibly damaging Het
Ldc1 T C 4: 130,105,223 (GRCm39) K316E probably benign Het
Lrrc37 T A 11: 103,509,656 (GRCm39) T771S unknown Het
Malrd1 A T 2: 15,850,038 (GRCm39) N1219I unknown Het
Mrc1 A C 2: 14,312,760 (GRCm39) N894T probably damaging Het
Mrpl35 C T 6: 71,793,271 (GRCm39) A127T possibly damaging Het
Naip2 T C 13: 100,325,644 (GRCm39) H88R probably benign Het
Nek5 C T 8: 22,580,495 (GRCm39) probably null Het
Nlrc5 G A 8: 95,252,118 (GRCm39) V1880I probably benign Het
Noc3l T A 19: 38,798,751 (GRCm39) K282N probably damaging Het
Nwd2 T C 5: 63,963,241 (GRCm39) Y942H probably damaging Het
Or10ag2 T C 2: 87,248,659 (GRCm39) V87A probably benign Het
Or4f62 G A 2: 111,986,974 (GRCm39) R226H probably benign Het
Or52d1 T A 7: 103,756,302 (GRCm39) I272N probably damaging Het
Osbpl9 C A 4: 108,930,333 (GRCm39) A221S probably benign Het
Paip1 T C 13: 119,566,801 (GRCm39) L45S probably benign Het
Pccb A T 9: 100,905,305 (GRCm39) probably benign Het
Pgap3 A G 11: 98,281,602 (GRCm39) F199L possibly damaging Het
Pik3c2g A T 6: 139,676,092 (GRCm39) K79* probably null Het
Pou3f1 C G 4: 124,552,152 (GRCm39) A218G possibly damaging Het
Ptk2b T A 14: 66,412,242 (GRCm39) N383I probably benign Het
Rad52 C T 6: 119,890,041 (GRCm39) R56C probably damaging Het
Rdh7 A T 10: 127,724,430 (GRCm39) F18Y probably benign Het
Scart2 C T 7: 139,841,532 (GRCm39) P279S possibly damaging Het
Septin5 A G 16: 18,441,861 (GRCm39) M315T possibly damaging Het
Slc27a6 A G 18: 58,715,306 (GRCm39) Y303C probably damaging Het
Slc7a7 T A 14: 54,607,293 (GRCm39) M495L probably benign Het
Sntg1 T A 1: 8,748,074 (GRCm39) probably null Het
Spdye4a T G 5: 143,211,418 (GRCm39) S49R probably benign Het
Spred2 T A 11: 19,951,019 (GRCm39) I72N probably benign Het
Stox1 A T 10: 62,495,386 (GRCm39) H962Q probably benign Het
Susd2 G T 10: 75,475,452 (GRCm39) A484D possibly damaging Het
Syt14 A G 1: 192,579,866 (GRCm39) S473P probably damaging Het
Tpx2 T C 2: 152,724,255 (GRCm39) Y344H probably damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Ttf2 A T 3: 100,870,028 (GRCm39) F348L probably benign Het
Ttn A T 2: 76,663,650 (GRCm39) V11675E unknown Het
Usp2 G T 9: 43,986,894 (GRCm39) R64L probably benign Het
Other mutations in Lipi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Lipi APN 16 75,347,254 (GRCm39) splice site probably benign
IGL01863:Lipi APN 16 75,347,114 (GRCm39) missense probably damaging 1.00
R1690:Lipi UTSW 16 75,338,013 (GRCm39) missense probably damaging 1.00
R2045:Lipi UTSW 16 75,347,087 (GRCm39) missense probably damaging 0.98
R4001:Lipi UTSW 16 75,370,759 (GRCm39) nonsense probably null
R4387:Lipi UTSW 16 75,370,843 (GRCm39) missense probably damaging 1.00
R4613:Lipi UTSW 16 75,357,689 (GRCm39) missense probably benign 0.01
R4680:Lipi UTSW 16 75,362,417 (GRCm39) critical splice donor site probably null
R5420:Lipi UTSW 16 75,352,757 (GRCm39) missense possibly damaging 0.82
R5503:Lipi UTSW 16 75,370,864 (GRCm39) missense probably benign 0.11
R5773:Lipi UTSW 16 75,370,813 (GRCm39) missense probably damaging 1.00
R5813:Lipi UTSW 16 75,370,798 (GRCm39) missense possibly damaging 0.91
R6312:Lipi UTSW 16 75,370,803 (GRCm39) missense probably damaging 1.00
R6559:Lipi UTSW 16 75,337,982 (GRCm39) missense probably benign 0.31
R7587:Lipi UTSW 16 75,347,103 (GRCm39) missense probably benign 0.00
R7639:Lipi UTSW 16 75,357,743 (GRCm39) missense probably benign 0.03
R8079:Lipi UTSW 16 75,362,418 (GRCm39) critical splice donor site probably null
R8256:Lipi UTSW 16 75,370,950 (GRCm39) missense probably benign 0.00
R8475:Lipi UTSW 16 75,370,862 (GRCm39) missense probably benign 0.00
R8855:Lipi UTSW 16 75,355,481 (GRCm39) missense probably damaging 1.00
R8895:Lipi UTSW 16 75,352,710 (GRCm39) missense probably benign 0.05
R9112:Lipi UTSW 16 75,359,159 (GRCm39) missense probably damaging 1.00
R9182:Lipi UTSW 16 75,357,673 (GRCm39) nonsense probably null
R9198:Lipi UTSW 16 75,362,461 (GRCm39) missense possibly damaging 0.60
R9601:Lipi UTSW 16 75,352,706 (GRCm39) missense possibly damaging 0.94
R9658:Lipi UTSW 16 75,357,689 (GRCm39) missense probably benign 0.01
X0017:Lipi UTSW 16 75,347,243 (GRCm39) missense probably benign 0.00
X0019:Lipi UTSW 16 75,352,703 (GRCm39) missense probably benign
Z1177:Lipi UTSW 16 75,347,175 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGCCCTACGGAATGAGAGAC -3'
(R):5'- TCTGTACTCAGTGAGGAGGAG -3'

Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCAAGCC -3'
(R):5'- GGAAAACTCAAAGTTCACTGATTGAG -3'
Posted On 2021-08-02