Incidental Mutation 'R7632:Plod1'
ID 589680
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 045720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7632 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 147994210-148021224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148011481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 248 (K248R)
Ref Sequence ENSEMBL: ENSMUSP00000019199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019199] [ENSMUST00000105712]
AlphaFold Q9R0E2
Predicted Effect probably damaging
Transcript: ENSMUST00000019199
AA Change: K248R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055
AA Change: K248R

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: ENSMUST00000105712
SMART Domains Protein: ENSMUSP00000101337
Gene: ENSMUSG00000019055

signal peptide 1 18 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,211,236 (GRCm39) D924G probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
B3gnt8 A G 7: 25,327,860 (GRCm39) I97V possibly damaging Het
Bach1 A G 16: 87,517,031 (GRCm39) D524G probably benign Het
Caprin2 T C 6: 148,784,954 (GRCm39) S107G probably damaging Het
Ccnb1 A G 13: 100,918,209 (GRCm39) I207T probably benign Het
Cdh11 T C 8: 103,400,515 (GRCm39) D151G probably damaging Het
Cdh9 A G 15: 16,851,115 (GRCm39) probably null Het
Cep83 A T 10: 94,586,502 (GRCm39) R433W probably damaging Het
Cspg4b C A 13: 113,457,420 (GRCm39) S1155R Het
D3Ertd751e A G 3: 41,708,163 (GRCm39) E100G probably benign Het
Dchs2 C T 3: 83,255,357 (GRCm39) A2351V probably benign Het
Dhx40 T C 11: 86,690,263 (GRCm39) T253A probably benign Het
Dqx1 A G 6: 83,036,680 (GRCm39) D228G probably benign Het
Dync1h1 T C 12: 110,627,327 (GRCm39) M4002T probably benign Het
Flcn C T 11: 59,686,625 (GRCm39) W376* probably null Het
Flnc A T 6: 29,446,984 (GRCm39) Y1037F probably damaging Het
Fut11 T A 14: 20,745,096 (GRCm39) V9E probably benign Het
Fv1 T A 4: 147,954,392 (GRCm39) N319K possibly damaging Het
Ghrhr G T 6: 55,361,727 (GRCm39) G298V probably benign Het
Gm5800 T A 14: 51,953,905 (GRCm39) probably null Het
Grin2b A G 6: 135,709,553 (GRCm39) M1331T probably benign Het
Hyou1 A G 9: 44,292,433 (GRCm39) probably null Het
Igkv1-117 C A 6: 68,098,792 (GRCm39) Q114K probably damaging Het
Igkv4-68 A G 6: 69,282,048 (GRCm39) V41A possibly damaging Het
Inpp4b A G 8: 82,772,968 (GRCm39) N754S probably damaging Het
Isl2 G A 9: 55,448,440 (GRCm39) probably null Het
Kat2a G A 11: 100,599,422 (GRCm39) Q523* probably null Het
Lypd3 T C 7: 24,337,865 (GRCm39) F77S possibly damaging Het
Map4k2 T C 19: 6,394,084 (GRCm39) L297P probably benign Het
Naca T C 10: 127,876,375 (GRCm39) V469A unknown Het
Notch3 C T 17: 32,377,480 (GRCm39) V199I probably benign Het
Or4k44 T C 2: 111,368,521 (GRCm39) I38V possibly damaging Het
Or5b119 T C 19: 13,456,795 (GRCm39) M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,598,212 (GRCm39) probably null Het
Pcdhb8 A T 18: 37,488,648 (GRCm39) I109L probably benign Het
Pde2a A G 7: 101,133,801 (GRCm39) D104G possibly damaging Het
Phip A G 9: 82,785,243 (GRCm39) V824A probably benign Het
Plekhg4 T C 8: 106,106,782 (GRCm39) Y853H probably damaging Het
Plxnd1 A T 6: 115,953,600 (GRCm39) Y656N probably benign Het
Pogz G A 3: 94,763,517 (GRCm39) probably null Het
Ppp1r3e T A 14: 55,114,526 (GRCm39) S79C probably damaging Het
Pprc1 T A 19: 46,060,721 (GRCm39) D1595E probably damaging Het
Ptprq A G 10: 107,547,783 (GRCm39) V205A probably benign Het
Rad51ap2 T C 12: 11,507,116 (GRCm39) V346A possibly damaging Het
Rgs12 T A 5: 35,122,934 (GRCm39) L239H probably damaging Het
Rrp8 T C 7: 105,385,727 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scaf1 A T 7: 44,656,503 (GRCm39) V792D unknown Het
Scrn2 G T 11: 96,923,968 (GRCm39) R284L possibly damaging Het
Sgsm1 T A 5: 113,423,948 (GRCm39) Q461L possibly damaging Het
Slc18b1 A G 10: 23,702,080 (GRCm39) T434A probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,702 (GRCm39) D122E probably damaging Het
Srebf2 G T 15: 82,069,497 (GRCm39) V680L probably benign Het
Tecpr1 C T 5: 144,155,544 (GRCm39) V5M probably benign Het
Tfg A G 16: 56,532,997 (GRCm39) V54A possibly damaging Het
Tmem237 C T 1: 59,156,060 (GRCm39) C30Y probably benign Het
Tmem245 T C 4: 56,916,787 (GRCm39) K444R probably benign Het
Trim25 T G 11: 88,906,602 (GRCm39) L446R probably null Het
Usp37 T C 1: 74,507,533 (GRCm39) T495A probably benign Het
Vmn1r94 T G 7: 19,901,696 (GRCm39) T203P probably damaging Het
Ywhah T A 5: 33,184,010 (GRCm39) M71K 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
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
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

Sequencing Primer
Posted On 2019-10-24