Incidental Mutation 'R8804:Plod1'
ID671907
Institutional Source Beutler Lab
Gene Symbol Plod1
Ensembl Gene ENSMUSG00000019055
Gene Nameprocollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
SynonymsLH1, 2410042F05Rik, lysyl hydroxylase 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8804 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location147909753-147936767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 147913321 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 644 (V644I)
Ref Sequence ENSEMBL: ENSMUSP00000019199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019199]
Predicted Effect probably damaging
Transcript: ENSMUST00000019199
AA Change: V644I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055
AA Change: V644I

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 probably benign
Transcript: ENSMUST00000149129
SMART Domains Protein: ENSMUSP00000118857
Gene: ENSMUSG00000019055

DomainStartEndE-ValueType
Blast:P4Hc 31 136 5e-33 BLAST
Blast:P4Hc 141 269 4e-47 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,628,656 probably benign Het
Adamts1 A G 16: 85,802,412 F100S probably damaging Het
Adamts5 A G 16: 85,869,912 probably benign Het
Adgrb2 T A 4: 130,005,419 W309R probably damaging Het
Adgrl2 A T 3: 148,847,016 V617E probably damaging Het
Akt1 T C 12: 112,658,607 E169G probably damaging Het
Arhgap40 A G 2: 158,547,706 T600A probably benign Het
B4galt3 C T 1: 171,276,374 H395Y probably benign Het
BC024139 T G 15: 76,124,084 T376P possibly damaging Het
Bin3 A G 14: 70,123,847 R22G probably damaging Het
Cadps2 A T 6: 23,496,806 I480N probably damaging Het
Camsap3 A G 8: 3,602,624 T401A probably benign Het
Cdhr5 T C 7: 141,269,407 T747A probably benign Het
Chn2 A G 6: 54,273,076 I193V probably benign Het
Clca3b T C 3: 144,839,137 N363S probably benign Het
Clec7a T C 6: 129,465,555 T125A probably benign Het
Cys1 A T 12: 24,668,611 L81Q unknown Het
Dcbld2 G A 16: 58,461,049 probably benign Het
Ddx60 T A 8: 61,958,606 D497E probably benign Het
Dnah2 T C 11: 69,465,685 I2117V probably benign Het
Dnah6 G A 6: 73,065,773 S3274F probably benign Het
Dock9 A T 14: 121,605,183 I1225N probably damaging Het
Egfr A G 11: 16,869,339 T290A probably benign Het
Elmod2 T A 8: 83,319,521 K142N probably benign Het
Ephx2 T C 14: 66,087,020 T441A probably benign Het
Fam234a A G 17: 26,216,557 probably benign Het
Fer1l4 C A 2: 156,051,994 E102D probably benign Het
Fermt3 A G 19: 7,014,326 probably benign Het
Fgd5 C T 6: 91,987,526 R247C probably benign Het
Gm14443 G A 2: 175,169,859 H265Y probably damaging Het
Gm8251 T C 1: 44,056,649 N1763S probably benign Het
Gykl1 A G 18: 52,694,536 D272G probably benign Het
Hip1r T C 5: 124,001,512 S952P possibly damaging Het
Hmcn2 A G 2: 31,425,381 N3714S probably benign Het
Hrasls T A 16: 29,220,453 V95E probably benign Het
Ighv1-36 G T 12: 114,879,961 T93K probably benign Het
Igsf10 T G 3: 59,336,455 T153P probably damaging Het
Kif13b T C 14: 64,750,342 C773R probably damaging Het
Lipf T A 19: 33,964,798 Y43N probably damaging Het
Mlh1 T C 9: 111,264,904 D90G probably damaging Het
Msh5 A T 17: 35,032,854 I410K probably benign Het
Mylk3 T C 8: 85,359,245 D220G probably benign Het
Ncdn G A 4: 126,750,105 A308V probably benign Het
Nup153 A G 13: 46,687,159 V991A probably benign Het
Nup188 T A 2: 30,330,879 H960Q probably benign Het
Parp4 G T 14: 56,616,443 E839* probably null Het
Pfas T C 11: 68,991,082 N30D Het
Pitpnc1 T A 11: 107,212,605 N223Y probably damaging Het
Pou2f1 T C 1: 165,880,470 T548A unknown Het
Psg20 A T 7: 18,682,659 N177K possibly damaging Het
Psmb8 T A 17: 34,200,251 I173N probably damaging Het
Rimkla G A 4: 119,468,076 Q379* probably null Het
Rnasel G T 1: 153,753,915 G59V probably damaging Het
Rptn A T 3: 93,395,843 D161V probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,926 probably benign Het
Scrt1 C A 15: 76,519,211 C193F unknown Het
Sdk2 G T 11: 113,873,152 Y269* probably null Het
Sfxn2 G C 19: 46,585,804 probably benign Het
Slc17a4 G T 13: 23,903,262 T264K probably benign Het
Slfn8 T A 11: 83,016,813 Q301H possibly damaging Het
Sntb1 G A 15: 55,792,127 S231F probably benign Het
Spag17 T A 3: 99,967,190 S137T probably benign Het
Srd5a2 A T 17: 74,047,634 V65E possibly damaging Het
Stk11ip A G 1: 75,535,256 H967R probably benign Het
Sun1 A G 5: 139,231,165 T320A probably benign Het
Svep1 A G 4: 58,206,043 S112P possibly damaging Het
Tacc2 T C 7: 130,692,963 L15P probably benign Het
Tas2r140 T A 6: 133,055,363 N144I probably damaging Het
Thpo T A 16: 20,725,957 R174S probably damaging Het
Tnik A T 3: 28,594,053 Q418L unknown Het
Tnr A T 1: 159,858,312 Q371L probably benign Het
Tulp2 G A 7: 45,520,974 R439Q probably damaging Het
Uchl4 G T 9: 64,235,324 W29L probably damaging Het
Vrk3 T A 7: 44,757,846 C80* probably null Het
Washc4 T C 10: 83,572,151 L540P probably damaging Het
Wscd1 T C 11: 71,784,335 F356S probably damaging Het
Wwc1 A T 11: 35,883,317 M372K probably benign Het
Zfhx2 A G 14: 55,074,734 F168L probably benign Het
Zfp28 A G 7: 6,390,400 D175G probably damaging Het
Other mutations in Plod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Plod1 APN 4 147932754 missense probably benign 0.12
IGL02312:Plod1 APN 4 147926157 missense probably benign 0.09
IGL02588:Plod1 APN 4 147913290 nonsense probably null
IGL02712:Plod1 APN 4 147918887 missense possibly damaging 0.95
IGL02976:Plod1 APN 4 147913321 missense probably damaging 0.99
IGL03244:Plod1 APN 4 147923123 critical splice donor site probably null
R0393:Plod1 UTSW 4 147918841 missense probably null 0.35
R1216:Plod1 UTSW 4 147921127 missense probably damaging 0.98
R1897:Plod1 UTSW 4 147926200 missense probably damaging 0.97
R3776:Plod1 UTSW 4 147931277 missense possibly damaging 0.75
R3923:Plod1 UTSW 4 147915823 missense possibly damaging 0.62
R4718:Plod1 UTSW 4 147916244 intron probably benign
R4897:Plod1 UTSW 4 147920279 missense probably benign
R5173:Plod1 UTSW 4 147916301 intron probably benign
R5657:Plod1 UTSW 4 147918781 missense possibly damaging 0.46
R6298:Plod1 UTSW 4 147916315 intron probably benign
R6995:Plod1 UTSW 4 147916218 intron probably benign
R7176:Plod1 UTSW 4 147913287 missense probably benign 0.00
R7632:Plod1 UTSW 4 147927024 missense probably damaging 1.00
R8059:Plod1 UTSW 4 147928484 missense probably damaging 1.00
R8167:Plod1 UTSW 4 147920201 missense probably damaging 1.00
R8909:Plod1 UTSW 4 147927106 nonsense probably null
X0013:Plod1 UTSW 4 147927042 missense possibly damaging 0.70
Y5406:Plod1 UTSW 4 147931187 missense probably damaging 1.00
Y5408:Plod1 UTSW 4 147931187 missense probably damaging 1.00
Z1176:Plod1 UTSW 4 147923200 missense probably damaging 0.99
Z1177:Plod1 UTSW 4 147931721 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCATAGCCACTGGGTTTTGCTC -3'
(R):5'- TCCTGAGATTCTTCTGTGCCAG -3'

Sequencing Primer
(F):5'- CACTGGGTTTTGCTCACCAGAG -3'
(R):5'- TGCCAGCTGTGATTCCAG -3'
Posted On2021-04-30