Incidental Mutation 'R5790:Lonp2'
ID 448278
Institutional Source Beutler Lab
Gene Symbol Lonp2
Ensembl Gene ENSMUSG00000047866
Gene Name lon peptidase 2, peroxisomal
Synonyms 1300002A08Rik
MMRRC Submission 043384-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R5790 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 87350672-87443264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87358118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 113 (V113A)
Ref Sequence ENSEMBL: ENSMUSP00000118737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034141] [ENSMUST00000122188] [ENSMUST00000155433]
AlphaFold Q9DBN5
Predicted Effect probably benign
Transcript: ENSMUST00000034141
AA Change: V113A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034141
Gene: ENSMUSG00000047866
AA Change: V113A

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 benign
Transcript: ENSMUST00000122188
AA Change: V113A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113834
Gene: ENSMUSG00000047866
AA Change: V113A

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 benign
Transcript: ENSMUST00000155433
AA Change: V113A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866
AA Change: V113A

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 noncoding transcript
Transcript: ENSMUST00000155501
Meta Mutation Damage Score 0.0970 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (73/74)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A T 5: 31,051,702 (GRCm39) R633* probably null Het
Ahnak T C 19: 8,992,612 (GRCm39) V4632A probably damaging Het
Asap1 T A 15: 63,966,114 (GRCm39) D997V probably damaging Het
Atad2 T C 15: 57,989,990 (GRCm39) Y162C probably damaging Het
Atp2b2 G T 6: 113,736,270 (GRCm39) S936R probably damaging Het
Bcl11a T A 11: 24,113,650 (GRCm39) L331Q probably damaging Het
C6 T A 15: 4,792,968 (GRCm39) F358I probably damaging Het
Capn15 C T 17: 26,183,521 (GRCm39) S386N probably benign Het
Ccdc66 G A 14: 27,222,404 (GRCm39) T113I possibly damaging Het
Cd200 G T 16: 45,217,621 (GRCm39) H23Q possibly damaging Het
Cdh17 A G 4: 11,814,945 (GRCm39) probably null Het
Ces2b C T 8: 105,560,568 (GRCm39) P128S probably damaging Het
Ces3b A T 8: 105,819,270 (GRCm39) Q442L probably damaging Het
Chil4 T C 3: 106,109,894 (GRCm39) H373R probably benign Het
Ciapin1 C A 8: 95,551,811 (GRCm39) probably benign Het
Cnot10 A C 9: 114,454,985 (GRCm39) probably null Het
Cpq A G 15: 33,250,143 (GRCm39) K167E probably damaging Het
Dennd4b T A 3: 90,184,757 (GRCm39) D1118E probably damaging Het
Dnah8 T A 17: 31,093,978 (GRCm39) C4691S probably damaging Het
Dnajc1 A G 2: 18,311,898 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,304,981 (GRCm39) R341H probably damaging Het
Dock10 G T 1: 80,482,887 (GRCm39) T2145K probably benign Het
Eif3b T C 5: 140,427,886 (GRCm39) V736A probably benign Het
Eno1 G T 4: 150,329,710 (GRCm39) V195L probably benign Het
Ewsr1 C T 11: 5,032,263 (GRCm39) probably benign Het
Fbn2 T C 18: 58,209,768 (GRCm39) T1038A probably benign Het
Gabrb1 T C 5: 72,293,827 (GRCm39) I367T possibly damaging Het
Gigyf1 C T 5: 137,522,517 (GRCm39) probably benign Het
Glp2r T A 11: 67,655,625 (GRCm39) Y39F probably damaging Het
Gm10036 T A 18: 15,966,243 (GRCm39) Y131* probably null Het
Gm38706 T C 6: 130,461,961 (GRCm39) noncoding transcript Het
Gna15 G A 10: 81,345,218 (GRCm39) R216C probably damaging Het
Grin3a A G 4: 49,792,717 (GRCm39) F339L probably damaging Het
Grk3 T G 5: 113,114,842 (GRCm39) K126T possibly damaging Het
Hspa1l T C 17: 35,196,216 (GRCm39) V85A probably benign Het
Iqsec1 A T 6: 90,666,862 (GRCm39) L525* probably null Het
Irx3 T C 8: 92,526,304 (GRCm39) T467A probably benign Het
Itga2 G A 13: 115,004,742 (GRCm39) T530I probably benign Het
Msx3 C T 7: 139,628,866 (GRCm39) R16H possibly damaging Het
Nek3 C A 8: 22,621,313 (GRCm39) Q405H probably damaging Het
Nek3 T A 8: 22,621,314 (GRCm39) Q403L probably damaging Het
Or2b6 T C 13: 21,823,046 (GRCm39) T216A probably benign Het
Or6c66 A G 10: 129,461,757 (GRCm39) Y58H probably damaging Het
P4ha1 A G 10: 59,190,184 (GRCm39) N367S probably benign Het
Padi6 C A 4: 140,459,569 (GRCm39) G429C probably damaging Het
Pidd1 T C 7: 141,021,305 (GRCm39) probably benign Het
Plekhg5 T C 4: 152,198,392 (GRCm39) V847A probably benign Het
Polr3e A G 7: 120,527,190 (GRCm39) D56G probably damaging Het
Pomt2 T G 12: 87,174,152 (GRCm39) N347T probably damaging Het
Ppp1r9a T C 6: 5,134,363 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,296 (GRCm39) D184V probably damaging Het
Rims2 A T 15: 39,544,441 (GRCm39) T1431S probably damaging Het
Saal1 T C 7: 46,351,352 (GRCm39) D208G probably damaging Het
Sis T C 3: 72,835,507 (GRCm39) I952V probably benign Het
Slc30a1 T A 1: 191,640,997 (GRCm39) D214E probably benign Het
Slc30a8 T C 15: 52,197,043 (GRCm39) V318A possibly damaging Het
Smarca2 A G 19: 26,654,124 (GRCm39) T770A probably damaging Het
Sptbn4 T A 7: 27,065,853 (GRCm39) H2031L probably damaging Het
Ssbp1 A G 6: 40,457,804 (GRCm39) S141G probably benign Het
Tgm4 A G 9: 122,890,808 (GRCm39) E45G probably damaging Het
Thra T A 11: 98,653,777 (GRCm39) S203T probably benign Het
Tle2 T C 10: 81,426,149 (GRCm39) Y763H probably damaging Het
Tmem141 T A 2: 25,511,087 (GRCm39) I102L probably benign Het
Tmem63c C T 12: 87,104,410 (GRCm39) T77I probably benign Het
Tspo2 C A 17: 48,756,047 (GRCm39) probably null Het
Ttc19 T A 11: 62,172,340 (GRCm39) M1K probably null Het
Ucp1 A G 8: 84,024,520 (GRCm39) N282D possibly damaging Het
Vmn1r33 A T 6: 66,589,198 (GRCm39) F119I probably benign Het
Vmn2r24 A T 6: 123,792,499 (GRCm39) M609L probably benign Het
Vwc2l A T 1: 70,790,142 (GRCm39) H146L 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
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
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'- CTGGCCAAATCAGCACTTTT -3'
(R):5'- GCTTCATTACCCAACAGAGTCATC -3'

Sequencing Primer
(F):5'- GCCAAATCAGCACTTTTTGAAGGG -3'
(R):5'- GAGTCATCTGACCTCAAGACAG -3'
Posted On 2016-12-15