Incidental Mutation 'R7090:Lipn'
ID 550186
Institutional Source Beutler Lab
Gene Symbol Lipn
Ensembl Gene ENSMUSG00000024770
Gene Name lipase, family member N
Synonyms 2210418G03Rik, Lipl4
MMRRC Submission 045184-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7090 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34044758-34062318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34049180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 115 (D115E)
Ref Sequence ENSEMBL: ENSMUSP00000025682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025682] [ENSMUST00000126710] [ENSMUST00000148821]
AlphaFold Q3U4B4
Predicted Effect possibly damaging
Transcript: ENSMUST00000025682
AA Change: D115E

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: D115E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Abhydro_lipase 38 100 1.4e-22 PFAM
Pfam:Abhydrolase_5 81 376 1.6e-10 PFAM
Pfam:Abhydrolase_1 81 382 1.2e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126710
AA Change: D115E

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: D115E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Abhydro_lipase 38 100 6.4e-23 PFAM
Pfam:Abhydrolase_1 114 181 4.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148821
SMART Domains Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Abhydro_lipase 38 83 2.6e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calm3 A T 7: 16,651,004 (GRCm39) Y139* probably null Het
Ccdc27 T C 4: 154,112,523 (GRCm39) N584S probably benign Het
Cdh24 C G 14: 54,876,964 (GRCm39) G13A probably damaging Het
Chd8 T C 14: 52,452,677 (GRCm39) K1281E probably damaging Het
Clasp1 G T 1: 118,409,816 (GRCm39) G4C probably benign Het
Cul9 G T 17: 46,811,765 (GRCm39) P2488T probably damaging Het
Daam2 A G 17: 49,789,973 (GRCm39) V428A probably damaging Het
Dcaf8 A G 1: 172,016,535 (GRCm39) S441G probably damaging Het
Dchs2 A G 3: 83,255,581 (GRCm39) T2426A probably benign Het
Dnai3 C A 3: 145,746,582 (GRCm39) K881N possibly damaging Het
Dpys A G 15: 39,690,279 (GRCm39) V358A probably damaging Het
Efhd1 A G 1: 87,217,219 (GRCm39) D112G probably damaging Het
Exoc1 T C 5: 76,714,800 (GRCm39) S120P unknown Het
Fyco1 A G 9: 123,626,784 (GRCm39) L1309S probably damaging Het
Gm14403 A G 2: 177,201,114 (GRCm39) N111S possibly damaging Het
Gm5901 A G 7: 105,026,555 (GRCm39) T108A probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Itgb5 T G 16: 33,705,464 (GRCm39) D251E probably damaging Het
Kcnk15 T C 2: 163,700,637 (GRCm39) V292A probably benign Het
Kdm2a A T 19: 4,369,169 (GRCm39) Y1149N probably damaging Het
Kdm3a T C 6: 71,572,529 (GRCm39) T1011A possibly damaging Het
Krt35 A T 11: 99,986,498 (GRCm39) probably null Het
Lpin3 T G 2: 160,738,672 (GRCm39) L208R probably damaging Het
Ltf C A 9: 110,855,048 (GRCm39) Q354K probably benign Het
Marf1 C A 16: 13,929,566 (GRCm39) C1680F possibly damaging Het
Mtss2 T A 8: 111,456,656 (GRCm39) V242E probably damaging Het
Myo7b T C 18: 32,131,765 (GRCm39) Y477C probably damaging Het
Nbn T A 4: 15,981,350 (GRCm39) S481T probably benign Het
Ncoa2 A G 1: 13,257,062 (GRCm39) Y146H probably damaging Het
Ntng1 A T 3: 109,842,496 (GRCm39) C92* probably null Het
Or10ad1b C T 15: 98,125,083 (GRCm39) V150I probably benign Het
Or2n1b G A 17: 38,460,385 (GRCm39) G302D probably benign Het
Or8k18 T A 2: 86,085,420 (GRCm39) N206Y probably damaging Het
Or8k31-ps1 T C 2: 86,356,471 (GRCm39) I17V probably benign Het
Os9 A T 10: 126,935,547 (GRCm39) S308T probably benign Het
Otx2 T A 14: 48,896,192 (GRCm39) T289S probably benign Het
Pakap C T 4: 57,648,042 (GRCm39) A60V probably benign Het
Pigg A G 5: 108,484,378 (GRCm39) T675A possibly damaging Het
Pink1 C T 4: 138,042,912 (GRCm39) E461K probably damaging Het
Pip5k1a A G 3: 94,967,809 (GRCm39) S543P possibly damaging Het
Prkaa1 A G 15: 5,206,611 (GRCm39) T454A probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rab31 C T 17: 66,005,012 (GRCm39) V83I possibly damaging Het
Rabggtb G T 3: 153,615,986 (GRCm39) D117E probably benign Het
Rbl1 T C 2: 156,994,820 (GRCm39) H951R probably benign Het
Sapcd2 A G 2: 25,266,091 (GRCm39) S314G probably benign Het
Septin4 T C 11: 87,475,264 (GRCm39) L164P probably damaging Het
Shroom1 A G 11: 53,356,760 (GRCm39) E541G probably damaging Het
Slc26a7 C A 4: 14,565,460 (GRCm39) G208* probably null Het
Smco2 A G 6: 146,772,711 (GRCm39) I304M probably damaging Het
Spg7 T C 8: 123,818,491 (GRCm39) probably null Het
Spocd1 T C 4: 129,847,691 (GRCm39) F552L Het
St6galnac2 T C 11: 116,568,461 (GRCm39) D334G probably damaging Het
Sub1 A G 15: 11,986,572 (GRCm39) S92P probably benign Het
Syne2 T C 12: 75,989,125 (GRCm39) F1829L probably benign Het
Tdrd1 T C 19: 56,839,833 (GRCm39) V631A probably benign Het
Tdrd9 T C 12: 111,958,904 (GRCm39) S113P probably benign Het
Tgfbrap1 A C 1: 43,110,725 (GRCm39) V260G probably damaging Het
Tyw3 G C 3: 154,299,426 (GRCm39) S94R probably benign Het
Urb2 T C 8: 124,757,338 (GRCm39) V1015A probably benign Het
Usp5 A G 6: 124,806,357 (GRCm39) M1T probably null Het
Utrn T C 10: 12,560,260 (GRCm39) D1343G possibly damaging Het
Vmn2r56 T C 7: 12,449,254 (GRCm39) Y328C probably damaging Het
Vmn2r99 A T 17: 19,613,972 (GRCm39) E564V possibly damaging Het
Zc3h8 T C 2: 128,777,241 (GRCm39) T133A possibly damaging Het
Other mutations in Lipn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Lipn APN 19 34,056,435 (GRCm39) missense probably benign 0.06
IGL01320:Lipn APN 19 34,062,040 (GRCm39) missense probably benign 0.07
IGL01827:Lipn APN 19 34,046,880 (GRCm39) missense probably damaging 1.00
IGL02252:Lipn APN 19 34,049,157 (GRCm39) missense probably benign 0.01
IGL02422:Lipn APN 19 34,046,063 (GRCm39) missense probably benign 0.00
R0081:Lipn UTSW 19 34,054,376 (GRCm39) missense probably benign 0.00
R0284:Lipn UTSW 19 34,058,106 (GRCm39) missense possibly damaging 0.87
R0539:Lipn UTSW 19 34,062,003 (GRCm39) unclassified probably benign
R0749:Lipn UTSW 19 34,054,379 (GRCm39) missense probably damaging 1.00
R1170:Lipn UTSW 19 34,049,158 (GRCm39) missense probably benign 0.23
R1528:Lipn UTSW 19 34,046,070 (GRCm39) missense probably damaging 0.96
R1621:Lipn UTSW 19 34,046,113 (GRCm39) missense probably benign
R1675:Lipn UTSW 19 34,058,110 (GRCm39) missense probably damaging 1.00
R1869:Lipn UTSW 19 34,058,139 (GRCm39) missense possibly damaging 0.93
R3236:Lipn UTSW 19 34,046,138 (GRCm39) missense probably benign 0.17
R3237:Lipn UTSW 19 34,046,138 (GRCm39) missense probably benign 0.17
R3832:Lipn UTSW 19 34,046,933 (GRCm39) critical splice donor site probably null
R3876:Lipn UTSW 19 34,046,828 (GRCm39) missense probably benign 0.00
R4084:Lipn UTSW 19 34,056,340 (GRCm39) missense probably benign 0.04
R4595:Lipn UTSW 19 34,058,750 (GRCm39) missense probably damaging 1.00
R5963:Lipn UTSW 19 34,058,700 (GRCm39) missense probably damaging 0.97
R6018:Lipn UTSW 19 34,054,335 (GRCm39) missense probably damaging 1.00
R6797:Lipn UTSW 19 34,058,160 (GRCm39) missense probably benign
R7157:Lipn UTSW 19 34,054,390 (GRCm39) nonsense probably null
R7458:Lipn UTSW 19 34,049,242 (GRCm39) missense probably benign 0.10
R8824:Lipn UTSW 19 34,062,116 (GRCm39) missense probably benign 0.04
R8894:Lipn UTSW 19 34,062,248 (GRCm39) makesense probably null
R8933:Lipn UTSW 19 34,046,880 (GRCm39) missense probably damaging 0.98
R9054:Lipn UTSW 19 34,054,376 (GRCm39) missense possibly damaging 0.56
R9117:Lipn UTSW 19 34,046,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATGCTATAGTGCGTCCTC -3'
(R):5'- TGGACTGTCTAAGAGGAAAGGTTTG -3'

Sequencing Primer
(F):5'- TCCTCTGGCAGGGGTGATATAAATAC -3'
(R):5'- TTTTCTTTCTGAATTCTACGTCAGG -3'
Posted On 2019-05-15