Incidental Mutation 'R4321:Lonp2'
ID 323831
Institutional Source Beutler Lab
Gene Symbol Lonp2
Ensembl Gene ENSMUSG00000047866
Gene Name lon peptidase 2, peroxisomal
Synonyms 1300002A08Rik
MMRRC Submission 041662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R4321 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 87350672-87443264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87392356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 474 (H474R)
Ref Sequence ENSEMBL: ENSMUSP00000118737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034141] [ENSMUST00000121673] [ENSMUST00000122188] [ENSMUST00000155433] [ENSMUST00000163987]
AlphaFold Q9DBN5
Predicted Effect probably damaging
Transcript: ENSMUST00000034141
AA Change: H474R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: H474R

DomainStartEndE-ValueType
Pfam:LON_substr_bdg 12 220 1e-24 PFAM
low complexity region 243 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
AAA 367 512 1.59e-10 SMART
low complexity region 538 545 N/A INTRINSIC
Pfam:Lon_C 628 837 1.6e-83 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121673
AA Change: H54R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: H54R

DomainStartEndE-ValueType
Pfam:AAA 1 93 8.7e-10 PFAM
low complexity region 118 125 N/A INTRINSIC
Pfam:Lon_C 208 417 3.2e-85 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000122188
AA Change: H332R
SMART Domains Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: H332R

DomainStartEndE-ValueType
Pfam:LON 12 224 9e-17 PFAM
AAA 225 370 1.59e-10 SMART
low complexity region 396 403 N/A INTRINSIC
Pfam:Lon_C 486 695 1.5e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124911
Predicted Effect probably damaging
Transcript: ENSMUST00000155433
AA Change: H474R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: H474R

DomainStartEndE-ValueType
Pfam:LON 12 220 3.3e-26 PFAM
low complexity region 243 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
AAA 367 512 1.59e-10 SMART
low complexity region 538 545 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163987
AA Change: H54R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: H54R

DomainStartEndE-ValueType
Pfam:AAA 1 93 8.7e-10 PFAM
low complexity region 118 125 N/A INTRINSIC
Pfam:Lon_C 208 417 3.2e-85 PFAM
Meta Mutation Damage Score 0.9393 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (56/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,100,887 (GRCm39) D420V probably damaging Het
Als2 A C 1: 59,206,613 (GRCm39) probably benign Het
Ankrd9 A G 12: 110,943,074 (GRCm39) L287P probably damaging Het
Aoc1l1 T A 6: 48,953,456 (GRCm39) D460E probably damaging Het
Bbof1 A T 12: 84,473,902 (GRCm39) R411* probably null Het
Camta2 A T 11: 70,569,151 (GRCm39) L598Q probably damaging Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Cep85 G A 4: 133,859,596 (GRCm39) T689I probably damaging Het
Clvs1 T C 4: 9,282,029 (GRCm39) probably benign Het
Cpped1 T C 16: 11,705,610 (GRCm39) T65A probably benign Het
Daxx T C 17: 34,130,380 (GRCm39) Y132H possibly damaging Het
Dock7 T C 4: 98,960,691 (GRCm39) E279G probably damaging Het
Dok7 A T 5: 35,237,141 (GRCm39) probably benign Het
Dthd1 A T 5: 62,976,033 (GRCm39) I236F probably damaging Het
Egf A G 3: 129,499,783 (GRCm39) C285R probably damaging Het
Epha4 T A 1: 77,483,850 (GRCm39) probably null Het
Fbxw13 A C 9: 109,010,503 (GRCm39) I378M probably benign Het
Gaa A T 11: 119,160,963 (GRCm39) N2I probably benign Het
Gad1 G A 2: 70,420,174 (GRCm39) D353N probably damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm2663 G T 6: 40,974,530 (GRCm39) Q87K probably damaging Het
Golga4 A G 9: 118,385,503 (GRCm39) E847G probably damaging Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Ibtk T C 9: 85,617,125 (GRCm39) D149G possibly damaging Het
Ice1 A T 13: 70,751,229 (GRCm39) V1619E possibly damaging Het
Itpr3 A G 17: 27,330,948 (GRCm39) E1752G probably benign Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Lama1 G A 17: 68,078,078 (GRCm39) G1171D probably benign Het
Mark1 G T 1: 184,630,871 (GRCm39) D746E possibly damaging Het
Mlxipl C T 5: 135,164,304 (GRCm39) Q167* probably null Het
Myo3a A T 2: 22,271,966 (GRCm39) N162Y probably damaging Het
Myo5a T G 9: 75,124,812 (GRCm39) V1787G probably damaging Het
Myorg C T 4: 41,498,767 (GRCm39) V288I probably benign Het
Nrxn3 A T 12: 90,166,005 (GRCm39) E227V probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy2 A G 10: 62,818,459 (GRCm39) D5G probably damaging Het
Rufy4 A T 1: 74,171,943 (GRCm39) D222V possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Slamf1 T C 1: 171,602,694 (GRCm39) probably null Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Spef2 A T 15: 9,679,429 (GRCm39) I636K possibly damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Txnl1 T C 18: 63,812,561 (GRCm39) T78A possibly damaging Het
Ulk4 T G 9: 120,903,062 (GRCm39) R1138S probably benign Het
Vamp8 A C 6: 72,362,536 (GRCm39) V88G possibly damaging Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp850 A C 7: 27,688,825 (GRCm39) F461C probably damaging Het
Other mutations in Lonp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Lonp2 APN 8 87,360,600 (GRCm39) missense probably damaging 1.00
IGL00990:Lonp2 APN 8 87,368,161 (GRCm39) splice site probably benign
IGL01654:Lonp2 APN 8 87,440,714 (GRCm39) missense probably damaging 1.00
IGL02021:Lonp2 APN 8 87,435,599 (GRCm39) missense probably benign 0.00
IGL02165:Lonp2 APN 8 87,435,654 (GRCm39) missense probably damaging 1.00
IGL02309:Lonp2 APN 8 87,361,491 (GRCm39) missense probably damaging 1.00
IGL02355:Lonp2 APN 8 87,350,874 (GRCm39) missense probably benign 0.17
IGL02362:Lonp2 APN 8 87,350,874 (GRCm39) missense probably benign 0.17
IGL02365:Lonp2 APN 8 87,442,993 (GRCm39) missense possibly damaging 0.69
IGL02374:Lonp2 APN 8 87,435,673 (GRCm39) missense probably damaging 0.97
IGL02440:Lonp2 APN 8 87,350,813 (GRCm39) start codon destroyed probably null 0.98
Furcht UTSW 8 87,358,130 (GRCm39) missense probably benign 0.09
Horror UTSW 8 87,350,876 (GRCm39) missense probably damaging 1.00
Shellshock UTSW 8 87,435,641 (GRCm39) missense probably damaging 1.00
R0083:Lonp2 UTSW 8 87,442,983 (GRCm39) missense probably benign 0.13
R0108:Lonp2 UTSW 8 87,442,983 (GRCm39) missense probably benign 0.13
R0108:Lonp2 UTSW 8 87,442,983 (GRCm39) missense probably benign 0.13
R0129:Lonp2 UTSW 8 87,361,518 (GRCm39) missense probably damaging 0.99
R0302:Lonp2 UTSW 8 87,364,619 (GRCm39) missense possibly damaging 0.94
R0433:Lonp2 UTSW 8 87,360,582 (GRCm39) missense probably damaging 1.00
R1148:Lonp2 UTSW 8 87,363,168 (GRCm39) missense probably benign 0.00
R1148:Lonp2 UTSW 8 87,363,168 (GRCm39) missense probably benign 0.00
R1413:Lonp2 UTSW 8 87,368,212 (GRCm39) missense probably damaging 1.00
R1589:Lonp2 UTSW 8 87,399,700 (GRCm39) splice site probably benign
R1635:Lonp2 UTSW 8 87,440,078 (GRCm39) missense possibly damaging 0.78
R1654:Lonp2 UTSW 8 87,358,078 (GRCm39) missense probably damaging 0.99
R2033:Lonp2 UTSW 8 87,435,570 (GRCm39) missense possibly damaging 0.77
R2062:Lonp2 UTSW 8 87,392,403 (GRCm39) missense probably damaging 0.99
R2065:Lonp2 UTSW 8 87,392,403 (GRCm39) missense probably damaging 0.99
R2066:Lonp2 UTSW 8 87,392,403 (GRCm39) missense probably damaging 0.99
R2068:Lonp2 UTSW 8 87,392,403 (GRCm39) missense probably damaging 0.99
R4713:Lonp2 UTSW 8 87,439,943 (GRCm39) missense probably damaging 0.98
R4750:Lonp2 UTSW 8 87,358,130 (GRCm39) missense probably benign 0.09
R5790:Lonp2 UTSW 8 87,358,118 (GRCm39) missense probably benign 0.24
R5854:Lonp2 UTSW 8 87,399,699 (GRCm39) critical splice donor site probably null
R5884:Lonp2 UTSW 8 87,368,254 (GRCm39) missense probably damaging 1.00
R6025:Lonp2 UTSW 8 87,440,001 (GRCm39) missense probably damaging 1.00
R6236:Lonp2 UTSW 8 87,363,215 (GRCm39) nonsense probably null
R6481:Lonp2 UTSW 8 87,361,536 (GRCm39) missense possibly damaging 0.69
R6534:Lonp2 UTSW 8 87,443,086 (GRCm39) missense probably benign 0.00
R6805:Lonp2 UTSW 8 87,435,724 (GRCm39) missense probably benign
R6983:Lonp2 UTSW 8 87,350,876 (GRCm39) missense probably damaging 1.00
R7330:Lonp2 UTSW 8 87,358,022 (GRCm39) missense probably damaging 1.00
R7641:Lonp2 UTSW 8 87,392,386 (GRCm39) missense probably benign 0.02
R7674:Lonp2 UTSW 8 87,392,386 (GRCm39) missense probably benign 0.02
R7711:Lonp2 UTSW 8 87,440,636 (GRCm39) missense probably damaging 0.99
R7826:Lonp2 UTSW 8 87,435,641 (GRCm39) missense probably damaging 1.00
R7999:Lonp2 UTSW 8 87,361,537 (GRCm39) missense probably benign 0.02
R8057:Lonp2 UTSW 8 87,440,717 (GRCm39) missense probably damaging 1.00
R8193:Lonp2 UTSW 8 87,358,091 (GRCm39) missense probably damaging 1.00
R8716:Lonp2 UTSW 8 87,442,933 (GRCm39) missense probably benign 0.20
R8766:Lonp2 UTSW 8 87,363,198 (GRCm39) missense probably benign 0.00
R8813:Lonp2 UTSW 8 87,358,073 (GRCm39) missense probably damaging 1.00
R9049:Lonp2 UTSW 8 87,435,735 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGACAATAGAATGTGTGGCATG -3'
(R):5'- GCATGACTGACTTTAAAGGGTG -3'

Sequencing Primer
(F):5'- AGGATTTAGAATATGAGGTGGTCAG -3'
(R):5'- CTGACTTTAAAGGGTGTGCTCAAAAG -3'
Posted On 2015-06-24