Incidental Mutation 'R4897:Plod1'
ID 375807
Institutional Source Beutler Lab
Gene Symbol Plod1
Ensembl Gene ENSMUSG00000019055
Gene Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Synonyms 2410042F05Rik, LH1, lysyl hydroxylase 1
MMRRC Submission 042501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4897 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 147994210-148021224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148004736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 455 (I455V)
Ref Sequence ENSEMBL: ENSMUSP00000019199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019199]
AlphaFold Q9R0E2
Predicted Effect probably benign
Transcript: ENSMUST00000019199
AA Change: I455V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055
AA Change: I455V

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000124041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124292
Predicted Effect unknown
Transcript: ENSMUST00000149129
AA Change: I41V
SMART Domains Protein: ENSMUSP00000118857
Gene: ENSMUSG00000019055
AA Change: I41V

DomainStartEndE-ValueType
Blast:P4Hc 31 136 5e-33 BLAST
Blast:P4Hc 141 269 4e-47 BLAST
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C A 2: 35,266,309 (GRCm39) M120I probably damaging Het
4933427D14Rik A T 11: 72,082,342 (GRCm39) L328Q probably damaging Het
Adgrv1 A C 13: 81,709,704 (GRCm39) probably null Het
Ankrd46 A T 15: 36,484,279 (GRCm39) probably benign Het
Arhgef18 A T 8: 3,494,979 (GRCm39) M413L probably benign Het
Atp6v1e1 G A 6: 120,781,044 (GRCm39) T87M probably null Het
Bap1 T C 14: 30,980,402 (GRCm39) probably benign Het
Brf1 A G 12: 112,929,507 (GRCm39) L385P probably benign Het
C1qtnf1 A T 11: 118,338,938 (GRCm39) N203Y probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Ccnjl A C 11: 43,470,718 (GRCm39) D162A probably damaging Het
Cd248 A C 19: 5,119,195 (GRCm39) I348L probably benign Het
Cdc20 T C 4: 118,293,029 (GRCm39) T265A probably benign Het
Cdca5 T A 19: 6,140,427 (GRCm39) L196* probably null Het
Cdk4 T A 10: 126,900,444 (GRCm39) probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Clec4b2 G T 6: 123,177,999 (GRCm39) E105* probably null Het
Dapk1 T A 13: 60,909,600 (GRCm39) D1404E probably benign Het
Dnah1 T C 14: 30,989,496 (GRCm39) Y3308C probably damaging Het
Dnah17 A C 11: 117,969,419 (GRCm39) Y2260D probably damaging Het
Dock8 T G 19: 25,159,001 (GRCm39) S1720A probably benign Het
Erc1 A G 6: 119,754,947 (GRCm39) probably null Het
Ergic1 A G 17: 26,848,597 (GRCm39) I66V probably benign Het
Fam186a T C 15: 99,843,158 (GRCm39) T1029A possibly damaging Het
Fat4 A T 3: 39,034,781 (GRCm39) Y2811F probably damaging Het
Flt3 A G 5: 147,306,110 (GRCm39) M310T probably damaging Het
Ganab T A 19: 8,892,355 (GRCm39) C844S probably benign Het
Gas2l2 C A 11: 83,320,041 (GRCm39) V72F probably damaging Het
Gm14401 T A 2: 176,778,573 (GRCm39) C220S probably damaging Het
Hmmr A T 11: 40,619,261 (GRCm39) V73E probably benign Het
Idi2l T G 13: 8,990,637 (GRCm39) probably benign Het
Ifih1 G T 2: 62,465,358 (GRCm39) probably benign Het
Jak3 A G 8: 72,138,048 (GRCm39) E833G probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Ldb1 G A 19: 46,023,132 (GRCm39) A217V probably benign Het
Lrrc8c A G 5: 105,755,955 (GRCm39) T577A probably benign Het
Mfn1 T A 3: 32,600,711 (GRCm39) probably benign Het
Mki67 G A 7: 135,298,474 (GRCm39) P2187S probably damaging Het
Mrc1 T A 2: 14,323,952 (GRCm39) D1096E probably benign Het
Msi1 A G 5: 115,573,654 (GRCm39) probably benign Het
Msto1 T A 3: 88,819,559 (GRCm39) I152F probably benign Het
Myo9a A G 9: 59,803,800 (GRCm39) R2060G probably benign Het
Nnt A T 13: 119,541,107 (GRCm39) C44* probably null Het
Nup210l A G 3: 90,100,378 (GRCm39) D1468G probably damaging Het
Or1j16 T C 2: 36,530,906 (GRCm39) L285P probably damaging Het
Or4c10b A G 2: 89,711,476 (GRCm39) E102G probably benign Het
Or5d46 C A 2: 88,174,686 (GRCm39) C129F possibly damaging Het
Or7a40 T C 16: 16,491,482 (GRCm39) D121G probably damaging Het
P2rx3 G A 2: 84,855,270 (GRCm39) T62I probably damaging Het
Pabpc4l G T 3: 46,401,578 (GRCm39) T22K probably damaging Het
Pcdha7 A G 18: 37,108,646 (GRCm39) D557G probably damaging Het
Pcdhb20 A G 18: 37,639,298 (GRCm39) K608R possibly damaging Het
Pcnx1 A G 12: 81,964,939 (GRCm39) S369G probably damaging Het
Prune2 A T 19: 17,099,219 (GRCm39) E1574D probably benign Het
Ptar1 T A 19: 23,680,472 (GRCm39) L96H probably damaging Het
Rabgap1 T C 2: 37,450,583 (GRCm39) S904P probably benign Het
Rps6ka4 C T 19: 6,815,467 (GRCm39) V176I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Runx1t1 T A 4: 13,771,459 (GRCm39) M1K probably null Het
Serinc4 T A 2: 121,282,905 (GRCm39) Y419F probably damaging Het
Serpina12 A T 12: 104,004,056 (GRCm39) M192K possibly damaging Het
Spata21 T A 4: 140,832,261 (GRCm39) M474K probably damaging Het
Stpg1 T C 4: 135,246,676 (GRCm39) S135P possibly damaging Het
Tdrkh A G 3: 94,336,671 (GRCm39) D481G probably damaging Het
Ube2e1 A C 14: 18,285,268 (GRCm38) S68R probably damaging Het
Vcpip1 A C 1: 9,817,572 (GRCm39) N270K probably damaging Het
Vmn2r79 T C 7: 86,650,675 (GRCm39) F154L probably benign Het
Vwa3b A G 1: 37,153,684 (GRCm39) probably benign Het
Xdh C A 17: 74,207,703 (GRCm39) V885L probably benign Het
Zfp141 A T 7: 42,125,629 (GRCm39) V281D probably benign Het
Zfp317 T A 9: 19,558,143 (GRCm39) I119N probably benign Het
Zfp345 G A 2: 150,314,608 (GRCm39) R310C probably benign Het
Zfp760 G A 17: 21,942,229 (GRCm39) C468Y probably benign 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
IGL02588:Plod1 APN 4 147,997,747 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTACAGTGACAAGATGGCTGG -3'
(R):5'- ACTGACTCAGGTTCAATAGACTC -3'

Sequencing Primer
(F):5'- ATGGCTGGAGGACCACACTC -3'
(R):5'- TGACTCAGGTTCAATAGACTCAACTC -3'
Posted On 2016-03-17