Incidental Mutation 'R9117:Lipn'
ID 692630
Institutional Source Beutler Lab
Gene Symbol Lipn
Ensembl Gene ENSMUSG00000024770
Gene Name lipase, family member N
Synonyms 2210418G03Rik, Lipl4
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9117 (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 C at 34046041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 5 (W5R)
Ref Sequence ENSEMBL: ENSMUSP00000025682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025682] [ENSMUST00000126710] [ENSMUST00000148821]
AlphaFold Q3U4B4
Predicted Effect probably damaging
Transcript: ENSMUST00000025682
AA Change: W5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: W5R

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 damaging
Transcript: ENSMUST00000126710
AA Change: W5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: W5R

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 damaging
Transcript: ENSMUST00000148821
AA Change: W5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: W5R

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: 98.9%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Agfg1 T G 1: 82,872,216 (GRCm39) F516L possibly damaging Het
Akap5 T A 12: 76,374,592 (GRCm39) M8K possibly damaging Het
Aldh1l2 C T 10: 83,342,545 (GRCm39) V535I probably benign Het
Atg3 T C 16: 45,006,564 (GRCm39) V277A probably damaging Het
Bloc1s6 C T 2: 122,588,534 (GRCm39) P168L probably damaging Het
Ccr7 A G 11: 99,036,086 (GRCm39) Y279H probably damaging Het
Cfap210 G T 2: 69,612,103 (GRCm39) S175* probably null Het
Clint1 A G 11: 45,781,562 (GRCm39) T211A probably damaging Het
Dchs2 T G 3: 83,176,662 (GRCm39) D873E probably benign Het
Dhx30 A G 9: 109,926,164 (GRCm39) L149P probably damaging Het
Dnah1 T C 14: 31,033,581 (GRCm39) probably benign Het
Dtx1 A G 5: 120,848,356 (GRCm39) V8A probably benign Het
Enpp3 T A 10: 24,702,078 (GRCm39) K91N possibly damaging Het
Fcho1 C T 8: 72,164,712 (GRCm39) G523E possibly damaging Het
Ffar2 T C 7: 30,518,616 (GRCm39) E308G probably damaging Het
Foxb2 T C 19: 16,850,758 (GRCm39) K83E unknown Het
Git2 A G 5: 114,887,621 (GRCm39) probably null Het
Gm10024 T C 10: 77,547,339 (GRCm39) S17P unknown Het
Greb1l A T 18: 10,542,422 (GRCm39) Y1339F probably benign Het
Grhl2 T A 15: 37,270,912 (GRCm39) D33E probably damaging Het
Herc4 C A 10: 63,126,300 (GRCm39) L551I probably benign Het
Igfn1 T A 1: 135,902,528 (GRCm39) T390S probably benign Het
Ighv3-1 T A 12: 113,928,089 (GRCm39) H90L probably benign Het
Jag2 G T 12: 112,877,279 (GRCm39) Y697* probably null Het
Kif1c T C 11: 70,595,798 (GRCm39) V168A probably damaging Het
Mavs G A 2: 131,087,245 (GRCm39) A248T probably benign Het
Megf10 G A 18: 57,392,773 (GRCm39) G390D probably damaging Het
Mib1 A G 18: 10,793,023 (GRCm39) H653R probably benign Het
Mrps9 T G 1: 42,942,537 (GRCm39) S332A probably benign Het
Muc5b T C 7: 141,423,070 (GRCm39) C4498R possibly damaging Het
Myo15b T A 11: 115,778,743 (GRCm39) I1157N possibly damaging Het
Myo9b C T 8: 71,800,451 (GRCm39) T1002M probably benign Het
Nav3 T A 10: 109,520,100 (GRCm39) M2328L probably benign Het
Or5h18 T C 16: 58,847,653 (GRCm39) I206V probably benign Het
Or8b52 T A 9: 38,577,106 (GRCm39) E11D probably benign Het
Pawr T C 10: 108,169,140 (GRCm39) S155P probably damaging Het
Pcdhb15 G T 18: 37,608,090 (GRCm39) V441F probably damaging Het
Plekhg3 A G 12: 76,624,905 (GRCm39) D1250G probably benign Het
Ptprs T A 17: 56,742,853 (GRCm39) M430L possibly damaging Het
Raly T A 2: 154,703,785 (GRCm39) S119T probably damaging Het
Serpinb6a A T 13: 34,109,412 (GRCm39) S128T probably benign Het
Sirt3 C T 7: 140,449,362 (GRCm39) probably benign Het
Slc22a7 A G 17: 46,748,029 (GRCm39) F210L probably damaging Het
Speg G T 1: 75,364,444 (GRCm39) S275I probably damaging Het
Stk32c C T 7: 138,768,141 (GRCm39) D47N unknown Het
Stra6 T G 9: 58,059,822 (GRCm39) S594R probably benign Het
Sun2 T C 15: 79,614,517 (GRCm39) H295R probably benign Het
Syne1 T C 10: 5,053,667 (GRCm39) Q7470R probably damaging Het
Syt14 A T 1: 192,666,126 (GRCm39) H259Q unknown Het
Toporsl A T 4: 52,609,943 (GRCm39) probably benign Het
Trim50 A G 5: 135,382,537 (GRCm39) S130G possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Wdr18 T C 10: 79,801,154 (GRCm39) V189A probably benign Het
Zfat C A 15: 68,058,918 (GRCm39) A206S probably 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
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
R9054:Lipn UTSW 19 34,054,376 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- ACTGCGTTGGATGAATAAGACTCC -3'
(R):5'- TCAGTCAAAGAATTCAGCTTGACAC -3'

Sequencing Primer
(F):5'- CAAGTAACTTCCCCTGTATTTGG -3'
(R):5'- TTATCTAAGAGTTTTGCTATTGGACC -3'
Posted On 2021-12-30