Incidental Mutation 'R8278:Loxl3'
ID 638064
Institutional Source Beutler Lab
Gene Symbol Loxl3
Ensembl Gene ENSMUSG00000000693
Gene Name lysyl oxidase-like 3
Synonyms Lor2
MMRRC Submission 067701-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 83011186-83029547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83025697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 352 (G352C)
Ref Sequence ENSEMBL: ENSMUSP00000000707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000089645] [ENSMUST00000101257] [ENSMUST00000113962] [ENSMUST00000113963] [ENSMUST00000122955] [ENSMUST00000134606]
AlphaFold Q9Z175
Predicted Effect probably damaging
Transcript: ENSMUST00000000707
AA Change: G352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: G352C

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 408 3.72e-51 SMART
SR 418 526 8.5e-37 SMART
Pfam:Lysyl_oxidase 530 730 3.9e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089645
SMART Domains Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 341 1.1e-14 PFAM
Pfam:Trypsin_2 182 320 1.2e-34 PFAM
PDZ 371 445 2.86e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101257
AA Change: G352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: G352C

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 396 5.46e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113962
SMART Domains Protein: ENSMUSP00000109595
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin_2 182 237 2.7e-12 PFAM
Pfam:Trypsin 212 277 4.5e-6 PFAM
PDZ 285 348 4.89e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113963
SMART Domains Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 342 6.8e-15 PFAM
Pfam:Trypsin_2 182 320 7.1e-24 PFAM
PDZ 350 413 4.89e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122955
SMART Domains Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 321 2.1e-10 PFAM
Pfam:Trypsin_2 182 317 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132099
Predicted Effect probably benign
Transcript: ENSMUST00000134606
SMART Domains Protein: ENSMUSP00000115547
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
Pfam:Trypsin 7 180 2.7e-15 PFAM
Pfam:Trypsin_2 20 158 3.1e-24 PFAM
PDZ 209 283 2.86e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150217
SMART Domains Protein: ENSMUSP00000118234
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Pfam:Trypsin 41 215 1.6e-11 PFAM
Pfam:Trypsin_2 53 190 1.8e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality shortly after birth, craniofacial and vertebral abnormalities associated with collagen deformities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,040 (GRCm39) Q477L probably benign Het
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Chit1 G A 1: 134,078,332 (GRCm39) R380Q probably benign Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
Fgf6 A T 6: 126,992,781 (GRCm39) Y78F probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nck2 T C 1: 43,593,740 (GRCm39) S316P probably damaging Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Sgsm1 A G 5: 113,407,958 (GRCm39) F898L probably damaging Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wdr33 G A 18: 31,960,405 (GRCm39) R23Q possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V possibly damaging Het
Other mutations in Loxl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Loxl3 APN 6 83,025,747 (GRCm39) unclassified probably benign
IGL01370:Loxl3 APN 6 83,026,468 (GRCm39) missense probably damaging 1.00
IGL02126:Loxl3 APN 6 83,025,628 (GRCm39) missense probably damaging 1.00
IGL02128:Loxl3 APN 6 83,027,564 (GRCm39) missense probably damaging 1.00
R0241:Loxl3 UTSW 6 83,027,114 (GRCm39) missense probably damaging 1.00
R0241:Loxl3 UTSW 6 83,027,114 (GRCm39) missense probably damaging 1.00
R1725:Loxl3 UTSW 6 83,012,574 (GRCm39) missense probably benign 0.00
R1771:Loxl3 UTSW 6 83,026,890 (GRCm39) missense probably damaging 1.00
R2017:Loxl3 UTSW 6 83,025,958 (GRCm39) missense probably damaging 0.99
R2291:Loxl3 UTSW 6 83,014,469 (GRCm39) missense probably benign 0.07
R3731:Loxl3 UTSW 6 83,027,652 (GRCm39) critical splice donor site probably null
R4179:Loxl3 UTSW 6 83,014,565 (GRCm39) missense probably benign 0.00
R5230:Loxl3 UTSW 6 83,012,775 (GRCm39) missense probably benign 0.16
R5385:Loxl3 UTSW 6 83,027,593 (GRCm39) missense probably damaging 0.99
R5591:Loxl3 UTSW 6 83,025,018 (GRCm39) missense probably damaging 1.00
R5664:Loxl3 UTSW 6 83,026,863 (GRCm39) missense probably benign 0.12
R5769:Loxl3 UTSW 6 83,027,581 (GRCm39) missense probably damaging 0.98
R5771:Loxl3 UTSW 6 83,012,780 (GRCm39) splice site probably null
R5802:Loxl3 UTSW 6 83,026,270 (GRCm39) missense possibly damaging 0.67
R5831:Loxl3 UTSW 6 83,025,999 (GRCm39) missense probably benign 0.01
R5945:Loxl3 UTSW 6 83,014,492 (GRCm39) missense probably damaging 1.00
R6542:Loxl3 UTSW 6 83,025,147 (GRCm39) missense probably benign 0.00
R6687:Loxl3 UTSW 6 83,027,645 (GRCm39) missense probably damaging 1.00
R7961:Loxl3 UTSW 6 83,027,790 (GRCm39) missense possibly damaging 0.88
R8009:Loxl3 UTSW 6 83,027,790 (GRCm39) missense possibly damaging 0.88
R8122:Loxl3 UTSW 6 83,026,240 (GRCm39) missense probably damaging 1.00
R8373:Loxl3 UTSW 6 83,025,872 (GRCm39) missense possibly damaging 0.89
R8411:Loxl3 UTSW 6 83,027,605 (GRCm39) missense probably damaging 1.00
R8539:Loxl3 UTSW 6 83,026,507 (GRCm39) missense probably benign
R8684:Loxl3 UTSW 6 83,012,566 (GRCm39) missense probably benign 0.23
R8782:Loxl3 UTSW 6 83,025,051 (GRCm39) missense probably benign
R8801:Loxl3 UTSW 6 83,025,629 (GRCm39) missense probably damaging 1.00
R8859:Loxl3 UTSW 6 83,014,526 (GRCm39) missense probably damaging 1.00
R8864:Loxl3 UTSW 6 83,012,739 (GRCm39) missense probably damaging 0.99
R9031:Loxl3 UTSW 6 83,012,503 (GRCm39) missense probably damaging 1.00
R9081:Loxl3 UTSW 6 83,025,638 (GRCm39) missense possibly damaging 0.67
R9176:Loxl3 UTSW 6 83,026,292 (GRCm39) missense probably damaging 0.99
R9369:Loxl3 UTSW 6 83,027,393 (GRCm39) missense probably benign 0.26
R9634:Loxl3 UTSW 6 83,027,835 (GRCm39) missense probably benign 0.10
V1024:Loxl3 UTSW 6 83,012,719 (GRCm39) missense probably damaging 1.00
X0009:Loxl3 UTSW 6 83,015,461 (GRCm39) missense probably damaging 1.00
Z1177:Loxl3 UTSW 6 83,025,141 (GRCm39) missense probably benign 0.00
Z1177:Loxl3 UTSW 6 83,015,559 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCTTTGGGCATGGCATGTC -3'
(R):5'- ATGTTCTTGGACGGGCATCTC -3'

Sequencing Primer
(F):5'- ATGGCATGTCTCTCTTCTACAGG -3'
(R):5'- CCGAACTTCACTCAAGTGGATGG -3'
Posted On 2020-07-28