Incidental Mutation 'R4713:Lonp2'
ID 353375
Institutional Source Beutler Lab
Gene Symbol Lonp2
Ensembl Gene ENSMUSG00000047866
Gene Name lon peptidase 2, peroxisomal
Synonyms 1300002A08Rik
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 87350672-87443264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87439943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 648 (S648P)
Ref Sequence ENSEMBL: ENSMUSP00000034141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034141] [ENSMUST00000121673] [ENSMUST00000122188] [ENSMUST00000155433] [ENSMUST00000163987]
AlphaFold Q9DBN5
Predicted Effect probably damaging
Transcript: ENSMUST00000034141
AA Change: S648P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: S648P

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 probably damaging
Transcript: ENSMUST00000121673
AA Change: S228P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113381
Gene: ENSMUSG00000047866
AA Change: S228P

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: S506P
SMART Domains Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: S506P

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 probably benign
Transcript: ENSMUST00000155433
SMART Domains Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866

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 probably damaging
Transcript: ENSMUST00000163987
AA Change: S228P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127938
Gene: ENSMUSG00000047866
AA Change: S228P

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I 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
R4321:Lonp2 UTSW 8 87,392,356 (GRCm39) missense probably damaging 1.00
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'- CAGTTCCTCACCCATGTGTAGAG -3'
(R):5'- CCATGTACCATTAGTCAGGTGG -3'

Sequencing Primer
(F):5'- CTCACCCATGTGTAGAGCTATATAC -3'
(R):5'- ATGTACCATTAGTCAGGTGGTATTTC -3'
Posted On 2015-10-21