Incidental Mutation 'IGL02588:Plod1'
ID 299598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plod1
Ensembl Gene ENSMUSG00000019055
Gene Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Synonyms 2410042F05Rik, LH1, lysyl hydroxylase 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02588
Quality Score
Chromosome 4
Chromosomal Location 147994210-148021224 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 147997747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 654 (L654*)
Ref Sequence ENSEMBL: ENSMUSP00000019199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019199]
AlphaFold Q9R0E2
Predicted Effect probably null
Transcript: ENSMUST00000019199
AA Change: L654*
SMART Domains Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055
AA Change: L654*

signal peptide 1 18 N/A INTRINSIC
low complexity region 301 313 N/A INTRINSIC
Blast:P4Hc 444 492 1e-8 BLAST
P4Hc 554 727 4.87e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149129
SMART Domains Protein: ENSMUSP00000118857
Gene: ENSMUSG00000019055

Blast:P4Hc 31 136 5e-33 BLAST
Blast:P4Hc 141 269 4e-47 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,933,282 (GRCm39) W258* probably null Het
Ankmy2 T C 12: 36,226,685 (GRCm39) probably benign Het
Arhgap26 G T 18: 38,734,670 (GRCm39) probably benign Het
Aspscr1 A G 11: 120,568,357 (GRCm39) D60G possibly damaging Het
Cdh15 C A 8: 123,583,291 (GRCm39) Y31* probably null Het
Cnih3 A G 1: 181,237,269 (GRCm39) R76G probably benign Het
Cplx1 C A 5: 108,673,289 (GRCm39) R44L possibly damaging Het
Dhx57 T A 17: 80,576,300 (GRCm39) I597F probably damaging Het
Dnah17 G T 11: 117,916,479 (GRCm39) F4231L possibly damaging Het
Dst T G 1: 34,156,565 (GRCm39) L173R probably damaging Het
Fezf2 A T 14: 12,343,687 (GRCm38) Y353N probably damaging Het
Ghrhr T A 6: 55,360,395 (GRCm39) L247Q probably damaging Het
Gm10912 C T 2: 103,897,197 (GRCm39) probably benign Het
Gpcpd1 A T 2: 132,376,673 (GRCm39) L541H probably damaging Het
Gpld1 C T 13: 25,127,682 (GRCm39) T28I probably damaging Het
Lmf2 A T 15: 89,239,609 (GRCm39) probably null Het
Lratd2 T C 15: 60,694,999 (GRCm39) D249G probably damaging Het
Mex3c A G 18: 73,723,116 (GRCm39) N403S probably damaging Het
Nlrp1b A T 11: 71,073,105 (GRCm39) L246* probably null Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Nlrp4c A T 7: 6,087,647 (GRCm39) D760V probably benign Het
Nlrp4g T C 9: 124,348,843 (GRCm38) noncoding transcript Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Nuggc T A 14: 65,855,226 (GRCm39) probably benign Het
Or4c122 T C 2: 89,080,042 (GRCm39) probably benign Het
Or52d1 C T 7: 103,756,260 (GRCm39) T258I possibly damaging Het
Papolg T A 11: 23,840,252 (GRCm39) I75F probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pdp2 A G 8: 105,321,536 (GRCm39) K462E possibly damaging Het
Ppp4r3b G T 11: 29,148,853 (GRCm39) G25* probably null Het
Ptch1 T C 13: 63,659,732 (GRCm39) D1307G probably benign Het
Ranbp17 A G 11: 33,167,361 (GRCm39) V1034A probably benign Het
Rbl2 T A 8: 91,813,712 (GRCm39) L319Q probably damaging Het
Retnlg A G 16: 48,693,255 (GRCm39) T11A probably benign Het
Rfc3 A T 5: 151,566,381 (GRCm39) F356Y possibly damaging Het
Rnf213 G T 11: 119,307,362 (GRCm39) C674F probably benign Het
Shcbp1l A G 1: 153,304,411 (GRCm39) K157E probably benign Het
Slc22a17 A G 14: 55,145,451 (GRCm39) C233R probably damaging Het
Slc38a9 A G 13: 112,834,511 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St14 C A 9: 31,001,329 (GRCm39) probably benign Het
Sympk G A 7: 18,776,550 (GRCm39) V481M probably benign Het
Timeless T A 10: 128,079,203 (GRCm39) L350Q probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ugt3a1 A T 15: 9,361,542 (GRCm39) H106L probably benign Het
Zbtb45 A T 7: 12,740,204 (GRCm39) C470* probably null Het
Other mutations in Plod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Plod1 APN 4 148,017,211 (GRCm39) missense probably benign 0.12
IGL02312:Plod1 APN 4 148,010,614 (GRCm39) missense probably benign 0.09
IGL02712:Plod1 APN 4 148,003,344 (GRCm39) missense possibly damaging 0.95
IGL02976:Plod1 APN 4 147,997,778 (GRCm39) missense probably damaging 0.99
IGL03244:Plod1 APN 4 148,007,580 (GRCm39) critical splice donor site probably null
R0393:Plod1 UTSW 4 148,003,298 (GRCm39) missense probably null 0.35
R1216:Plod1 UTSW 4 148,005,584 (GRCm39) missense probably damaging 0.98
R1897:Plod1 UTSW 4 148,010,657 (GRCm39) missense probably damaging 0.97
R3776:Plod1 UTSW 4 148,015,734 (GRCm39) missense possibly damaging 0.75
R3923:Plod1 UTSW 4 148,000,280 (GRCm39) missense possibly damaging 0.62
R4718:Plod1 UTSW 4 148,000,701 (GRCm39) intron probably benign
R4897:Plod1 UTSW 4 148,004,736 (GRCm39) missense probably benign
R5173:Plod1 UTSW 4 148,000,758 (GRCm39) intron probably benign
R5657:Plod1 UTSW 4 148,003,238 (GRCm39) missense possibly damaging 0.46
R6298:Plod1 UTSW 4 148,000,772 (GRCm39) intron probably benign
R6995:Plod1 UTSW 4 148,000,675 (GRCm39) intron probably benign
R7176:Plod1 UTSW 4 147,997,744 (GRCm39) missense probably benign 0.00
R7632:Plod1 UTSW 4 148,011,481 (GRCm39) missense probably damaging 1.00
R8059:Plod1 UTSW 4 148,012,941 (GRCm39) missense probably damaging 1.00
R8167:Plod1 UTSW 4 148,004,658 (GRCm39) missense probably damaging 1.00
R8804:Plod1 UTSW 4 147,997,778 (GRCm39) missense probably damaging 0.99
R8909:Plod1 UTSW 4 148,011,563 (GRCm39) nonsense probably null
R8986:Plod1 UTSW 4 147,997,734 (GRCm39) missense probably damaging 0.99
R9245:Plod1 UTSW 4 148,010,626 (GRCm39) missense possibly damaging 0.86
R9646:Plod1 UTSW 4 148,016,112 (GRCm39) missense probably benign 0.03
X0013:Plod1 UTSW 4 148,011,499 (GRCm39) missense possibly damaging 0.70
Y5406:Plod1 UTSW 4 148,015,644 (GRCm39) missense probably damaging 1.00
Y5408:Plod1 UTSW 4 148,015,644 (GRCm39) missense probably damaging 1.00
Z1176:Plod1 UTSW 4 148,007,657 (GRCm39) missense probably damaging 0.99
Z1177:Plod1 UTSW 4 148,016,178 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16