Incidental Mutation 'IGL02699:Plod2'
ID 304071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plod2
Ensembl Gene ENSMUSG00000032374
Gene Name procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
Synonyms Plod-2, LH2, lysyl hydroxylase 2, D530025C14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02699
Quality Score
Status
Chromosome 9
Chromosomal Location 92424276-92490481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92489195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 709 (M709K)
Ref Sequence ENSEMBL: ENSMUSP00000068611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070522] [ENSMUST00000160359]
AlphaFold Q9R0B9
Predicted Effect probably damaging
Transcript: ENSMUST00000070522
AA Change: M709K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068611
Gene: ENSMUSG00000032374
AA Change: M709K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Blast:P4Hc 453 500 1e-22 BLAST
P4Hc 563 736 6.38e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160359
AA Change: M730K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125373
Gene: ENSMUSG00000032374
AA Change: M730K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Blast:P4Hc 453 500 1e-22 BLAST
P4Hc 584 757 6.38e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190075
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough 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 VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,157,853 (GRCm39) D198G probably benign Het
Casq1 T C 1: 172,047,263 (GRCm39) probably benign Het
Cd109 T A 9: 78,579,271 (GRCm39) probably benign Het
Col15a1 T G 4: 47,284,471 (GRCm39) probably benign Het
Ctdp1 T C 18: 80,493,400 (GRCm39) D365G probably benign Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dalrd3 T A 9: 108,448,088 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,139,105 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo8 A G 8: 57,043,223 (GRCm39) T236A possibly damaging Het
Ighv1-12 C A 12: 114,579,736 (GRCm39) E29* probably null Het
Il17re A G 6: 113,445,880 (GRCm39) D397G probably damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Ipo11 T C 13: 107,025,905 (GRCm39) E395G possibly damaging Het
Letm1 T C 5: 33,902,492 (GRCm39) E599G possibly damaging Het
Mansc1 T C 6: 134,587,317 (GRCm39) T287A probably benign Het
Med1 T C 11: 98,070,851 (GRCm39) N131D possibly damaging Het
Or10ak13 G T 4: 118,639,349 (GRCm39) C144* probably null Het
Or13p3 T C 4: 118,567,395 (GRCm39) S264P probably benign Het
Or6c2b T G 10: 128,947,640 (GRCm39) Y218S probably benign Het
Or8k38 A T 2: 86,488,691 (GRCm39) I37N probably benign Het
Osm T C 11: 4,189,723 (GRCm39) V169A possibly damaging Het
Phkg2 C T 7: 127,181,722 (GRCm39) A278V probably benign Het
Pzp A T 6: 128,464,364 (GRCm39) probably null Het
Ric1 T C 19: 29,499,957 (GRCm39) L12P possibly damaging Het
Skor1 C A 9: 63,047,328 (GRCm39) probably benign Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Syncrip A G 9: 88,338,607 (GRCm39) probably benign Het
Tex2 T C 11: 106,459,259 (GRCm39) E57G possibly damaging Het
Tmc1 C T 19: 20,809,714 (GRCm39) probably null Het
Tmem59 T C 4: 107,049,735 (GRCm39) M140T probably benign Het
Ttn T C 2: 76,774,433 (GRCm39) T2158A probably damaging Het
Other mutations in Plod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Plod2 APN 9 92,480,667 (GRCm39) missense probably damaging 0.99
IGL00945:Plod2 APN 9 92,466,549 (GRCm39) missense probably benign 0.08
IGL01386:Plod2 APN 9 92,488,655 (GRCm39) missense probably damaging 0.99
IGL01519:Plod2 APN 9 92,477,348 (GRCm39) missense probably benign 0.00
IGL01836:Plod2 APN 9 92,488,551 (GRCm39) splice site probably benign
IGL02490:Plod2 APN 9 92,468,895 (GRCm39) missense probably benign 0.00
IGL02496:Plod2 APN 9 92,489,147 (GRCm39) missense probably damaging 1.00
IGL02735:Plod2 APN 9 92,477,442 (GRCm39) splice site probably benign
IGL03106:Plod2 APN 9 92,455,620 (GRCm39) missense probably damaging 0.98
R0270:Plod2 UTSW 9 92,466,574 (GRCm39) missense probably benign 0.10
R0546:Plod2 UTSW 9 92,477,388 (GRCm39) missense probably damaging 1.00
R0589:Plod2 UTSW 9 92,475,799 (GRCm39) missense probably benign
R0707:Plod2 UTSW 9 92,487,480 (GRCm39) missense possibly damaging 0.91
R1491:Plod2 UTSW 9 92,488,637 (GRCm39) missense probably benign 0.00
R1572:Plod2 UTSW 9 92,485,120 (GRCm39) splice site probably benign
R1731:Plod2 UTSW 9 92,466,657 (GRCm39) critical splice donor site probably null
R1895:Plod2 UTSW 9 92,489,188 (GRCm39) missense probably damaging 1.00
R1917:Plod2 UTSW 9 92,463,310 (GRCm39) missense probably benign
R1946:Plod2 UTSW 9 92,489,188 (GRCm39) missense probably damaging 1.00
R3850:Plod2 UTSW 9 92,424,598 (GRCm39) missense probably benign 0.28
R3973:Plod2 UTSW 9 92,480,672 (GRCm39) nonsense probably null
R3974:Plod2 UTSW 9 92,480,672 (GRCm39) nonsense probably null
R4289:Plod2 UTSW 9 92,485,041 (GRCm39) missense possibly damaging 0.89
R4423:Plod2 UTSW 9 92,484,042 (GRCm39) missense probably benign 0.00
R4647:Plod2 UTSW 9 92,487,503 (GRCm39) nonsense probably null
R4754:Plod2 UTSW 9 92,488,584 (GRCm39) nonsense probably null
R4769:Plod2 UTSW 9 92,477,325 (GRCm39) missense probably damaging 1.00
R5279:Plod2 UTSW 9 92,463,376 (GRCm39) missense probably damaging 1.00
R5535:Plod2 UTSW 9 92,488,622 (GRCm39) missense probably damaging 1.00
R5654:Plod2 UTSW 9 92,475,876 (GRCm39) missense probably benign
R5764:Plod2 UTSW 9 92,485,074 (GRCm39) missense probably damaging 0.97
R5885:Plod2 UTSW 9 92,488,709 (GRCm39) critical splice donor site probably null
R5940:Plod2 UTSW 9 92,473,450 (GRCm39) missense probably benign 0.39
R6917:Plod2 UTSW 9 92,475,823 (GRCm39) missense possibly damaging 0.87
R7109:Plod2 UTSW 9 92,455,650 (GRCm39) missense probably damaging 1.00
R7221:Plod2 UTSW 9 92,466,580 (GRCm39) missense probably damaging 1.00
R7311:Plod2 UTSW 9 92,466,611 (GRCm39) missense probably damaging 1.00
R7963:Plod2 UTSW 9 92,487,499 (GRCm39) missense probably benign 0.07
R8205:Plod2 UTSW 9 92,424,371 (GRCm39) start gained probably benign
R8794:Plod2 UTSW 9 92,482,801 (GRCm39) missense probably damaging 0.98
R8873:Plod2 UTSW 9 92,489,112 (GRCm39) intron probably benign
R9044:Plod2 UTSW 9 92,489,273 (GRCm39) missense probably damaging 0.97
R9071:Plod2 UTSW 9 92,485,048 (GRCm39) missense probably benign 0.09
R9120:Plod2 UTSW 9 92,424,380 (GRCm39) start gained probably benign
Z1088:Plod2 UTSW 9 92,485,088 (GRCm39) missense probably benign
Posted On 2015-04-16