Incidental Mutation 'R4859:Lonp1'
ID 372367
Institutional Source Beutler Lab
Gene Symbol Lonp1
Ensembl Gene ENSMUSG00000041168
Gene Name lon peptidase 1, mitochondrial
Synonyms 1200017E13Rik, Prss15, LON
MMRRC Submission 042470-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4859 (G1)
Quality Score 184
Status Not validated
Chromosome 17
Chromosomal Location 56921297-56933887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56933587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 96 (V96A)
Ref Sequence ENSEMBL: ENSMUSP00000041814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047226] [ENSMUST00000112979]
AlphaFold Q8CGK3
Predicted Effect probably benign
Transcript: ENSMUST00000047226
AA Change: V96A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: V96A

DomainStartEndE-ValueType
LON 111 357 3.95e-62 SMART
low complexity region 389 404 N/A INTRINSIC
AAA 504 649 1.81e-14 SMART
Pfam:Lon_C 725 938 1e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112979
SMART Domains Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:CATSPERD 38 766 N/A PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.5%
Validation Efficiency 100% (112/112)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality with embryonic growth retardation, small size and decreased mitochondrial DNA content. Mice heterozygous for this allele exhibit reduced chemically-induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,580 (GRCm39) V282E probably benign Het
Adam26b T C 8: 43,973,296 (GRCm39) T569A possibly damaging Het
Adam6a A G 12: 113,509,609 (GRCm39) N661D probably damaging Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adhfe1 A G 1: 9,628,438 (GRCm39) Y270C probably damaging Het
Aldh16a1 C T 7: 44,796,731 (GRCm39) R256H probably benign Het
Ap5z1 T C 5: 142,459,748 (GRCm39) M466T possibly damaging Het
Aspm C T 1: 139,397,131 (GRCm39) L908F probably damaging Het
Atp8b2 T A 3: 89,853,287 (GRCm39) T743S probably benign Het
Bag2 G T 1: 33,786,022 (GRCm39) T100K probably damaging Het
Camk2a A G 18: 61,076,246 (GRCm39) probably benign Het
Ccdc158 A G 5: 92,781,262 (GRCm39) Y848H probably damaging Het
Ccp110 T G 7: 118,324,653 (GRCm39) V725G possibly damaging Het
Cdh6 A G 15: 13,051,418 (GRCm39) V405A probably benign Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cfap157 A G 2: 32,667,554 (GRCm39) F510L probably benign Het
Chd3 A T 11: 69,250,722 (GRCm39) M669K possibly damaging Het
Cnot10 C T 9: 114,456,532 (GRCm39) A168T probably damaging Het
Crybg1 A G 10: 43,868,565 (GRCm39) V1371A probably damaging Het
Dars2 A G 1: 160,872,560 (GRCm39) L547P probably damaging Het
Dis3 A G 14: 99,325,226 (GRCm39) C483R probably damaging Het
Dnah7b T A 1: 46,395,762 (GRCm39) L3888Q probably damaging Het
Dpysl2 A T 14: 67,066,888 (GRCm39) Y182N probably damaging Het
Eif4g1 T A 16: 20,500,923 (GRCm39) F509L probably benign Het
Evc T C 5: 37,458,253 (GRCm39) T85A probably damaging Het
Farsb T C 1: 78,444,609 (GRCm39) T283A probably benign Het
Fem1al G T 11: 29,775,178 (GRCm39) A93E probably damaging Het
Fgf14 C A 14: 124,429,845 (GRCm39) R30L possibly damaging Het
Gbe1 T C 16: 70,275,289 (GRCm39) L363P probably damaging Het
Gcg A G 2: 62,307,189 (GRCm39) V124A probably damaging Het
Glb1l A G 1: 75,176,963 (GRCm39) probably benign Het
Gm5431 T C 11: 48,780,409 (GRCm39) E449G probably damaging Het
Gon4l T C 3: 88,802,655 (GRCm39) S1089P probably benign Het
Hgd T C 16: 37,409,111 (GRCm39) L25P probably damaging Het
Hnf1a T C 5: 115,093,311 (GRCm39) H318R possibly damaging Het
Hsd17b7 A C 1: 169,794,826 (GRCm39) V71G possibly damaging Het
Hydin T C 8: 111,233,126 (GRCm39) S1742P possibly damaging Het
Insyn2b A G 11: 34,353,154 (GRCm39) S399G probably benign Het
Kank2 T C 9: 21,691,078 (GRCm39) E552G probably benign Het
Kcnq4 C A 4: 120,573,810 (GRCm39) R217L probably damaging Het
Klrg2 T C 6: 38,604,540 (GRCm39) *201W probably null Het
Kndc1 T C 7: 139,501,821 (GRCm39) S953P probably benign Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Mgat4e T C 1: 134,469,478 (GRCm39) K189E possibly damaging Het
Msantd5f8 A G 4: 73,805,457 (GRCm39) S351P probably damaging Het
Msh2 G A 17: 88,026,187 (GRCm39) V722I possibly damaging Het
Mtcl3 A C 10: 29,026,390 (GRCm39) M491L probably benign Het
N4bp2 T C 5: 65,982,641 (GRCm39) Y1632H probably damaging Het
Nlrc4 T G 17: 74,743,032 (GRCm39) K862T probably damaging Het
Notch4 A T 17: 34,806,154 (GRCm39) Q1750L probably damaging Het
Obscn C T 11: 58,972,849 (GRCm39) V2066I possibly damaging Het
Or2v2 T C 11: 49,003,993 (GRCm39) K187E probably damaging Het
Or4c15 T A 2: 88,760,627 (GRCm39) I11L probably benign Het
Or4f14b A T 2: 111,775,156 (GRCm39) I215N probably damaging Het
Or52d13 A T 7: 103,110,243 (GRCm39) Y57* probably null Het
Or5m8 T C 2: 85,823,075 (GRCm39) S305P probably damaging Het
Pde7a T A 3: 19,295,655 (GRCm39) probably benign Het
Pign A T 1: 105,575,892 (GRCm39) Y249* probably null Het
Ppp1r17 A T 6: 56,003,449 (GRCm39) E87D probably damaging Het
Prss3 T A 6: 41,350,857 (GRCm39) Q211L probably damaging Het
Rapgef6 A G 11: 54,526,989 (GRCm39) E413G probably benign Het
Rnf150 A G 8: 83,590,712 (GRCm39) H25R probably damaging Het
Scamp2 T C 9: 57,488,934 (GRCm39) probably null Het
Scap T A 9: 110,203,410 (GRCm39) probably benign Het
Sdc2 A C 15: 33,032,602 (GRCm39) K175N probably damaging Het
Serpinb6d T A 13: 33,851,547 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,146,164 (GRCm39) N1181S probably benign Het
Slc44a2 T C 9: 21,259,441 (GRCm39) I46T probably damaging Het
Slfn8 A G 11: 82,908,540 (GRCm39) M1T probably null Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
Tbck T G 3: 132,507,288 (GRCm39) S753R probably benign Het
Tdp1 A G 12: 99,876,070 (GRCm39) I340M probably benign Het
Tmprss6 T A 15: 78,330,877 (GRCm39) Y50F probably damaging Het
Trank1 T A 9: 111,194,078 (GRCm39) S701T probably benign Het
Trbv17 A T 6: 41,140,223 (GRCm39) N26I probably benign Het
Trip12 A T 1: 84,771,531 (GRCm39) S248T probably damaging Het
Vmn2r53 T G 7: 12,335,330 (GRCm39) Q110P probably damaging Het
Vmn2r75 A G 7: 85,797,611 (GRCm39) V734A probably benign Het
Wfdc11 A T 2: 164,507,415 (GRCm39) M14K probably null Het
Xcr1 T A 9: 123,685,712 (GRCm39) M17L probably benign Het
Zbtb40 A G 4: 136,716,070 (GRCm39) I965T probably damaging Het
Zfp760 A T 17: 21,942,511 (GRCm39) H562L probably damaging Het
Zfp760 A T 17: 21,942,516 (GRCm39) R564* probably null Het
Znf41-ps T A 4: 145,555,283 (GRCm39) noncoding transcript Het
Zyg11a A T 4: 108,067,387 (GRCm39) I41N probably damaging Het
Other mutations in Lonp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Lonp1 APN 17 56,926,265 (GRCm39) missense probably damaging 1.00
IGL00934:Lonp1 APN 17 56,921,683 (GRCm39) missense probably benign 0.21
IGL01065:Lonp1 APN 17 56,922,500 (GRCm39) unclassified probably benign
IGL01343:Lonp1 APN 17 56,922,586 (GRCm39) missense possibly damaging 0.93
IGL01734:Lonp1 APN 17 56,923,026 (GRCm39) missense probably damaging 1.00
IGL02141:Lonp1 APN 17 56,922,086 (GRCm39) missense probably benign 0.19
IGL02979:Lonp1 APN 17 56,928,940 (GRCm39) missense probably benign 0.02
chaney UTSW 17 56,929,515 (GRCm39) missense probably damaging 1.00
Karloff UTSW 17 56,925,406 (GRCm39) missense probably benign
R0015:Lonp1 UTSW 17 56,925,406 (GRCm39) missense probably benign
R0015:Lonp1 UTSW 17 56,925,406 (GRCm39) missense probably benign
R0863:Lonp1 UTSW 17 56,925,331 (GRCm39) missense probably damaging 1.00
R1343:Lonp1 UTSW 17 56,927,272 (GRCm39) missense probably damaging 1.00
R1735:Lonp1 UTSW 17 56,921,956 (GRCm39) missense probably damaging 1.00
R1975:Lonp1 UTSW 17 56,922,068 (GRCm39) missense possibly damaging 0.69
R1976:Lonp1 UTSW 17 56,922,068 (GRCm39) missense possibly damaging 0.69
R1977:Lonp1 UTSW 17 56,922,068 (GRCm39) missense possibly damaging 0.69
R2484:Lonp1 UTSW 17 56,921,659 (GRCm39) missense probably damaging 1.00
R2895:Lonp1 UTSW 17 56,922,562 (GRCm39) missense probably damaging 1.00
R3123:Lonp1 UTSW 17 56,933,488 (GRCm39) missense possibly damaging 0.79
R3125:Lonp1 UTSW 17 56,933,488 (GRCm39) missense possibly damaging 0.79
R3429:Lonp1 UTSW 17 56,925,337 (GRCm39) missense probably damaging 1.00
R3726:Lonp1 UTSW 17 56,925,310 (GRCm39) unclassified probably benign
R3767:Lonp1 UTSW 17 56,928,952 (GRCm39) missense possibly damaging 0.80
R4618:Lonp1 UTSW 17 56,929,511 (GRCm39) missense probably benign 0.03
R4951:Lonp1 UTSW 17 56,927,335 (GRCm39) missense possibly damaging 0.64
R5208:Lonp1 UTSW 17 56,924,793 (GRCm39) missense probably damaging 1.00
R5620:Lonp1 UTSW 17 56,927,263 (GRCm39) missense probably benign 0.05
R5621:Lonp1 UTSW 17 56,927,263 (GRCm39) missense probably benign 0.05
R5622:Lonp1 UTSW 17 56,927,263 (GRCm39) missense probably benign 0.05
R6131:Lonp1 UTSW 17 56,921,457 (GRCm39) missense probably benign 0.01
R6377:Lonp1 UTSW 17 56,928,961 (GRCm39) missense possibly damaging 0.90
R6692:Lonp1 UTSW 17 56,926,230 (GRCm39) missense probably damaging 1.00
R7052:Lonp1 UTSW 17 56,933,549 (GRCm39) missense probably benign 0.31
R7131:Lonp1 UTSW 17 56,924,814 (GRCm39) missense probably damaging 1.00
R7295:Lonp1 UTSW 17 56,929,495 (GRCm39) missense possibly damaging 0.70
R7739:Lonp1 UTSW 17 56,933,620 (GRCm39) missense probably benign
R7792:Lonp1 UTSW 17 56,929,515 (GRCm39) missense probably damaging 1.00
R8307:Lonp1 UTSW 17 56,933,573 (GRCm39) missense probably benign 0.01
R8546:Lonp1 UTSW 17 56,933,702 (GRCm39) missense probably benign 0.00
R9257:Lonp1 UTSW 17 56,927,516 (GRCm39) nonsense probably null
R9586:Lonp1 UTSW 17 56,924,839 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCTTAGACGCGAGGGAGC -3'
(R):5'- AGAACATCCTTCATCGGGCC -3'

Sequencing Primer
(F):5'- AGCTGAGAGACCACTCGG -3'
(R):5'- TCTGAGCCTTGAACCACGC -3'
Posted On 2016-03-01