Incidental Mutation 'R6695:Lonrf2'
ID 528519
Institutional Source Beutler Lab
Gene Symbol Lonrf2
Ensembl Gene ENSMUSG00000048814
Gene Name LON peptidase N-terminal domain and ring finger 2
Synonyms 2900060P06Rik
MMRRC Submission 044813-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6695 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 38832750-38875768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38852470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000117600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039612] [ENSMUST00000147695]
AlphaFold F6ZE64
Predicted Effect probably benign
Transcript: ENSMUST00000039612
AA Change: D127G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047372
Gene: ENSMUSG00000048814
AA Change: D127G

DomainStartEndE-ValueType
Blast:TPR 22 55 2e-14 BLAST
low complexity region 72 87 N/A INTRINSIC
RING 213 250 1.54e-5 SMART
Pfam:LON 301 498 4.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147695
AA Change: D127G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117600
Gene: ENSMUSG00000048814
AA Change: D127G

DomainStartEndE-ValueType
Blast:TPR 22 55 2e-14 BLAST
low complexity region 72 87 N/A INTRINSIC
RING 213 250 1.54e-5 SMART
Pfam:LON_substr_bdg 301 498 2.6e-27 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,497 (GRCm39) L179H probably benign Het
Cacna1h C A 17: 25,612,714 (GRCm39) A370S probably damaging Het
Cc2d2a A T 5: 43,876,019 (GRCm39) I1053F probably damaging Het
Csmd3 A G 15: 47,721,230 (GRCm39) V1467A probably damaging Het
Cyp4f15 T A 17: 32,911,586 (GRCm39) L156* probably null Het
Dmwd T A 7: 18,814,652 (GRCm39) L434Q probably damaging Het
Dtx4 T A 19: 12,450,599 (GRCm39) R538* probably null Het
Fcgbp T A 7: 27,785,695 (GRCm39) C377* probably null Het
Galntl6 G T 8: 58,880,804 (GRCm39) H116Q probably damaging Het
Herc1 T A 9: 66,391,148 (GRCm39) probably null Het
Hydin T G 8: 111,053,092 (GRCm39) S255A probably benign Het
Knstrn G A 2: 118,644,723 (GRCm39) A48T probably damaging Het
Luzp1 T C 4: 136,272,609 (GRCm39) S12P possibly damaging Het
Man2c1 A T 9: 57,048,875 (GRCm39) H822L probably benign Het
Map3k13 G T 16: 21,741,028 (GRCm39) G785V probably benign Het
Mia2 A G 12: 59,219,366 (GRCm39) H454R probably damaging Het
Mib2 G A 4: 155,745,629 (GRCm39) R61C probably damaging Het
Muc15 A T 2: 110,561,616 (GRCm39) L17F probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nav2 A G 7: 49,114,652 (GRCm39) I879V probably benign Het
Nomo1 T A 7: 45,715,885 (GRCm39) S751T probably benign Het
Or1j10 A T 2: 36,267,117 (GRCm39) S110C probably benign Het
Or5b24 A T 19: 12,912,764 (GRCm39) I221L possibly damaging Het
Or5g27 A G 2: 85,409,793 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,256 (GRCm39) N412S probably benign Het
Plk5 T C 10: 80,196,035 (GRCm39) S235P probably benign Het
Ppm1j A G 3: 104,692,802 (GRCm39) D437G probably damaging Het
Rab11fip1 T C 8: 27,633,262 (GRCm39) E1148G probably damaging Het
Rad9b T C 5: 122,489,754 (GRCm39) N43S probably damaging Het
Rc3h2 A C 2: 37,304,673 (GRCm39) I29S possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spta1 A T 1: 174,071,608 (GRCm39) probably null Het
Stk32c A T 7: 138,702,880 (GRCm39) V53E probably damaging Het
Strc A T 2: 121,207,705 (GRCm39) F555L probably benign Het
Sugct T G 13: 17,497,815 (GRCm39) N286T possibly damaging Het
Swsap1 A T 9: 21,867,971 (GRCm39) probably null Het
Thbs2 T A 17: 14,894,426 (GRCm39) D807V possibly damaging Het
Tnrc6b A G 15: 80,763,974 (GRCm39) D492G probably damaging Het
Tonsl A T 15: 76,514,018 (GRCm39) S1184T possibly damaging Het
Tpp2 T A 1: 44,022,436 (GRCm39) Y945N probably benign Het
Usp54 G T 14: 20,610,937 (GRCm39) A1293D possibly damaging Het
Vps52 A T 17: 34,182,173 (GRCm39) K516* probably null Het
Zbtb17 T A 4: 141,189,110 (GRCm39) V10D probably damaging Het
Zfp607b T C 7: 27,403,464 (GRCm39) V640A probably benign Het
Other mutations in Lonrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Lonrf2 APN 1 38,851,616 (GRCm39) splice site probably benign
IGL02369:Lonrf2 APN 1 38,850,913 (GRCm39) splice site probably benign
IGL02526:Lonrf2 APN 1 38,839,791 (GRCm39) missense probably benign 0.02
gorged UTSW 1 38,843,417 (GRCm39) missense probably benign 0.05
Swollen UTSW 1 38,852,470 (GRCm39) missense probably benign
R1450:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1527:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1541:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1655:Lonrf2 UTSW 1 38,850,905 (GRCm39) missense probably damaging 0.98
R1679:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1681:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1711:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1732:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1758:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1768:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1795:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1831:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1832:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R1833:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R2044:Lonrf2 UTSW 1 38,846,131 (GRCm39) missense probably benign 0.17
R2054:Lonrf2 UTSW 1 38,852,357 (GRCm39) missense probably benign 0.14
R2656:Lonrf2 UTSW 1 38,855,041 (GRCm39) splice site probably null
R4084:Lonrf2 UTSW 1 38,860,232 (GRCm39) missense probably benign 0.00
R4775:Lonrf2 UTSW 1 38,857,140 (GRCm39) splice site probably null
R4796:Lonrf2 UTSW 1 38,855,119 (GRCm39) missense probably benign 0.00
R5445:Lonrf2 UTSW 1 38,846,234 (GRCm39) missense probably benign 0.05
R5875:Lonrf2 UTSW 1 38,846,128 (GRCm39) missense probably benign 0.01
R5902:Lonrf2 UTSW 1 38,846,174 (GRCm39) missense probably benign 0.17
R6441:Lonrf2 UTSW 1 38,857,204 (GRCm39) missense possibly damaging 0.76
R6533:Lonrf2 UTSW 1 38,852,349 (GRCm39) missense probably benign 0.08
R6930:Lonrf2 UTSW 1 38,843,417 (GRCm39) missense probably benign 0.05
R7923:Lonrf2 UTSW 1 38,839,843 (GRCm39) missense probably benign 0.30
R8237:Lonrf2 UTSW 1 38,839,854 (GRCm39) missense probably benign 0.00
R9072:Lonrf2 UTSW 1 38,850,867 (GRCm39) missense probably damaging 1.00
R9073:Lonrf2 UTSW 1 38,850,867 (GRCm39) missense probably damaging 1.00
R9433:Lonrf2 UTSW 1 38,875,538 (GRCm39) start gained probably benign
R9468:Lonrf2 UTSW 1 38,839,839 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTGGGAATCTTCTCAGGGG -3'
(R):5'- GTCTCCCTGGTACTAAGGTTAC -3'

Sequencing Primer
(F):5'- AATCTTCTCAGGGGTATTCGC -3'
(R):5'- GGCCTCACAAATGTTCAGCAGG -3'
Posted On 2018-07-24