Incidental Mutation 'R9054:Lipn'
ID 688590
Institutional Source Beutler Lab
Gene Symbol Lipn
Ensembl Gene ENSMUSG00000024770
Gene Name lipase, family member N
Synonyms 2210418G03Rik, Lipl4
MMRRC Submission 068880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9054 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34044758-34062318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34054376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 205 (I205F)
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: I205F

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I205F

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 probably benign
Transcript: ENSMUST00000126710
SMART Domains Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (51/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankef1 T A 2: 136,395,594 (GRCm39) D641E probably benign Het
Anln A G 9: 22,272,116 (GRCm39) probably null Het
Areg A T 5: 91,292,217 (GRCm39) E172D probably damaging Het
Ccdc51 A T 9: 108,918,482 (GRCm39) T24S probably benign Het
Cckar A T 5: 53,860,424 (GRCm39) I135N probably damaging Het
Cdca7 CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA CGAGGAAGAGGAGGAGGAAGAGGA 2: 72,313,821 (GRCm39) probably benign Het
Cep295 T C 9: 15,235,551 (GRCm39) H2056R possibly damaging Het
Chrnb2 T C 3: 89,664,562 (GRCm39) K451E probably damaging Het
Ctnna2 C T 6: 76,919,249 (GRCm39) R663Q probably benign Het
Cyp4f37 A T 17: 32,853,253 (GRCm39) I406F probably benign Het
Eml4 T A 17: 83,734,640 (GRCm39) probably benign Het
Fkrp G T 7: 16,544,569 (GRCm39) T431K probably damaging Het
Fsip2 A T 2: 82,806,180 (GRCm39) Y833F possibly damaging Het
Galnt2 T C 8: 125,058,837 (GRCm39) probably null Het
Gm8180 T A 14: 44,019,806 (GRCm39) probably null Het
Hcn1 T C 13: 118,108,171 (GRCm39) S552P unknown Het
Ifit1 A C 19: 34,625,887 (GRCm39) E341A possibly damaging Het
Iyd A G 10: 3,490,250 (GRCm39) probably benign Het
Krt72 A T 15: 101,694,836 (GRCm39) S20T probably damaging Het
Lemd2 G T 17: 27,423,069 (GRCm39) D108E probably benign Het
Nat1 G T 8: 67,943,723 (GRCm39) R36L probably benign Het
Nebl A T 2: 17,415,907 (GRCm39) M334K possibly damaging Het
Nectin4 A T 1: 171,214,351 (GRCm39) N502I probably damaging Het
Nrp1 G A 8: 129,214,389 (GRCm39) V626I probably benign Het
Oprm1 G A 10: 6,773,914 (GRCm39) probably benign Het
Or52w1 A G 7: 105,017,680 (GRCm39) Y49C probably damaging Het
Or8a1b C T 9: 37,623,204 (GRCm39) V124M probably damaging Het
Pde2a A G 7: 101,156,927 (GRCm39) Y637C probably damaging Het
Pde4d T C 13: 110,071,924 (GRCm39) V306A probably damaging Het
Pdzd9 G A 7: 120,269,498 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,947,017 (GRCm39) D810V probably damaging Het
Pkd1l3 A T 8: 110,392,304 (GRCm39) H1966L probably benign Het
Pmfbp1 C T 8: 110,247,661 (GRCm39) T319I possibly damaging Het
Pramel28 T C 4: 143,692,314 (GRCm39) Q229R probably benign Het
Prb1c G C 6: 132,338,856 (GRCm39) Q121E unknown Het
Psg18 T A 7: 18,087,450 (GRCm39) R69S possibly damaging Het
Ptprg A T 14: 12,213,638 (GRCm38) Q1002L possibly damaging Het
Ptprj T C 2: 90,290,984 (GRCm39) Y585C probably damaging Het
Rad51c T C 11: 87,293,542 (GRCm39) T105A probably benign Het
Rbm12 A T 2: 155,937,481 (GRCm39) D930E unknown Het
Rlf A C 4: 121,007,784 (GRCm39) S509A possibly damaging Het
Slc39a3 C A 10: 80,869,499 (GRCm39) G53C probably damaging Het
Smchd1 G A 17: 71,670,017 (GRCm39) Q1685* probably null Het
Sprr2d A C 3: 92,247,715 (GRCm39) E52A unknown Het
Stat1 A G 1: 52,182,086 (GRCm39) N355S probably damaging Het
Tmem30b T C 12: 73,592,923 (GRCm39) E64G probably benign Het
Ttll11 A T 2: 35,869,392 (GRCm39) V82D probably benign Het
Ttn T A 2: 76,570,977 (GRCm39) T26639S probably damaging Het
Usp53 A T 3: 122,727,725 (GRCm39) N952K probably benign Het
Vmn1r199 T A 13: 22,567,724 (GRCm39) H339Q possibly damaging Het
Vps13b G A 15: 35,422,537 (GRCm39) D166N probably damaging Het
Zfp954 C A 7: 7,119,097 (GRCm39) C149F probably benign 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
R7090:Lipn UTSW 19 34,049,180 (GRCm39) missense possibly damaging 0.72
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
R9117:Lipn UTSW 19 34,046,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGAAGCCGAAGTACAATGTTG -3'
(R):5'- CACGTTGAAGTACATCCTCATGG -3'

Sequencing Primer
(F):5'- CGAAGTACAATGTTGCAGAAACC -3'
(R):5'- GTACATCCTCATGGACTCTGATTTC -3'
Posted On 2021-11-19