Incidental Mutation 'R2289:Loxl2'
ID 244231
Institutional Source Beutler Lab
Gene Symbol Loxl2
Ensembl Gene ENSMUSG00000034205
Gene Name lysyl oxidase-like 2
Synonyms 9430067E15Rik, 1110004B06Rik
MMRRC Submission 040288-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R2289 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 69846517-69933283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69930524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 763 (E763K)
Ref Sequence ENSEMBL: ENSMUSP00000097987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022660] [ENSMUST00000100420] [ENSMUST00000118374] [ENSMUST00000121142] [ENSMUST00000216152]
AlphaFold P58022
Predicted Effect probably benign
Transcript: ENSMUST00000022660
AA Change: E763K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022660
Gene: ENSMUSG00000034205
AA Change: E763K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SR 61 162 4.4e-53 SMART
SR 189 305 8.41e-18 SMART
SR 329 428 2.29e-51 SMART
SR 438 546 4.6e-33 SMART
Pfam:Lysyl_oxidase 550 753 1.9e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100420
AA Change: E763K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097987
Gene: ENSMUSG00000034205
AA Change: E763K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SR 61 162 4.4e-53 SMART
SR 189 305 8.41e-18 SMART
SR 329 428 2.29e-51 SMART
SR 438 546 4.6e-33 SMART
Pfam:Lysyl_oxidase 550 750 1.1e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118374
SMART Domains Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121142
SMART Domains Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184438
Predicted Effect probably benign
Transcript: ENSMUST00000216152
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show partial perinatal lethality associated with cardiac defects and distended liver blood vessels. Overexpressing mice display male sterility, testis degeneration, epididymal dysfunction, and increased tumor burden and malignant progression after DMBA-TPA treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp12a G A 14: 56,610,719 (GRCm39) V288I possibly damaging Het
Cntn6 C T 6: 104,545,989 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cplx3 T A 9: 57,520,941 (GRCm39) E220V possibly damaging Het
Cracdl T C 1: 37,651,342 (GRCm39) K1175R possibly damaging Het
Dcaf10 T A 4: 45,359,816 (GRCm39) W244R probably damaging Het
Dixdc1 A G 9: 50,595,172 (GRCm39) probably null Het
Dlg4 T A 11: 69,917,752 (GRCm39) Y12N probably damaging Het
Fsd1l T A 4: 53,696,931 (GRCm39) Y442N possibly damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hcrt C A 11: 100,652,745 (GRCm39) A90S probably damaging Het
Itga6 T A 2: 71,648,873 (GRCm39) V119D probably damaging Het
Klrh1 T C 6: 129,745,140 (GRCm39) N152S probably null Het
Lmtk2 T A 5: 144,112,924 (GRCm39) S1215T possibly damaging Het
Mcrip1 T C 11: 120,435,530 (GRCm39) E35G probably damaging Het
Nle1 T A 11: 82,793,879 (GRCm39) I386F probably benign Het
Nqo1 T C 8: 108,119,630 (GRCm39) I8V probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Pax8 T C 2: 24,330,752 (GRCm39) D227G probably benign Het
Phf14 T C 6: 12,047,845 (GRCm39) C885R probably damaging Het
Rhobtb3 A C 13: 76,059,046 (GRCm39) C251G probably damaging Het
Samd13 C T 3: 146,368,446 (GRCm39) A49T probably damaging Het
Snrpa1 T A 7: 65,713,586 (GRCm39) V101E probably benign Het
Styx A G 14: 45,592,404 (GRCm39) E20G possibly damaging Het
Thoc1 T C 18: 9,984,488 (GRCm39) Y325H probably damaging Het
Tmem163 T A 1: 127,423,477 (GRCm39) T262S possibly damaging Het
Tsr1 T G 11: 74,790,111 (GRCm39) L102R probably damaging Het
Vash1 G C 12: 86,726,952 (GRCm39) R64P probably damaging Het
Vps13b A C 15: 35,572,251 (GRCm39) D956A probably damaging Het
Vrk1 G A 12: 106,024,120 (GRCm39) G199S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp870 A T 17: 33,102,334 (GRCm39) S333T probably benign Het
Zranb1 T C 7: 132,551,768 (GRCm39) Y140H probably damaging Het
Zscan4b A G 7: 10,635,789 (GRCm39) probably null Het
Other mutations in Loxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0020:Loxl2 UTSW 14 69,898,242 (GRCm39) missense probably damaging 0.99
R0149:Loxl2 UTSW 14 69,930,527 (GRCm39) missense probably benign 0.34
R1448:Loxl2 UTSW 14 69,930,489 (GRCm39) missense probably damaging 1.00
R1471:Loxl2 UTSW 14 69,930,546 (GRCm39) missense probably benign 0.02
R1743:Loxl2 UTSW 14 69,929,851 (GRCm39) missense possibly damaging 0.90
R2124:Loxl2 UTSW 14 69,929,859 (GRCm39) missense probably benign 0.08
R9189:Loxl2 UTSW 14 69,929,859 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGCCTCATCCCTGATAGCAG -3'
(R):5'- TCTTCTCAGCTGGATCTGGC -3'

Sequencing Primer
(F):5'- TCCCTGATAGCAGTGAAAACTG -3'
(R):5'- TATTCCCCCAGGAGTCAGTAAGTG -3'
Posted On 2014-10-30