Incidental Mutation 'IGL01386:Plod2'
ID 79042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plod2
Ensembl Gene ENSMUSG00000032374
Gene Name procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
Synonyms D530025C14Rik, Plod-2, LH2, lysyl hydroxylase 2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01386
Quality Score
Status
Chromosome 9
Chromosomal Location 92542223-92608428 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92606602 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 627 (R627Q)
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: R627Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068611
Gene: ENSMUSG00000032374
AA Change: R627Q

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 benign
Transcript: ENSMUST00000160359
AA Change: R648Q

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125373
Gene: ENSMUSG00000032374
AA Change: R648Q

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,193,672 R214G probably benign Het
Cacna1e T A 1: 154,472,377 K817N probably benign Het
Cyp3a16 A G 5: 145,440,434 F448L probably damaging Het
Dpp6 T A 5: 27,664,762 probably null Het
Eif2ak3 C T 6: 70,892,726 T799M probably damaging Het
Erbb4 A T 1: 68,343,931 S302R probably damaging Het
Fam217a T A 13: 34,915,649 probably benign Het
Flt4 C A 11: 49,637,335 A995D probably benign Het
Fpr-rs7 G A 17: 20,114,192 S12L probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Hpcal4 T C 4: 123,189,242 probably null Het
Intu A T 3: 40,692,587 D630V probably damaging Het
Jak3 A G 8: 71,684,289 D703G probably damaging Het
Lama4 A G 10: 39,011,064 I122V probably benign Het
Marc2 A G 1: 184,819,216 probably benign Het
Mrpl11 A C 19: 4,963,381 K92T probably null Het
Mylk A G 16: 34,971,240 probably null Het
Olfr599 A T 7: 103,338,767 K238* probably null Het
Parpbp A C 10: 88,139,986 Y88* probably null Het
Rapsn G T 2: 91,036,799 A149S probably damaging Het
Ripk3 T G 14: 55,786,027 Q109P probably damaging Het
Scaf11 T C 15: 96,420,480 D401G probably damaging Het
Serpine2 G A 1: 79,801,551 T150I probably damaging Het
Sh2d6 T A 6: 72,518,962 T98S probably benign Het
Slc28a1 G T 7: 81,164,679 A513S probably benign Het
Tanc2 T C 11: 105,886,381 F795S probably damaging Het
Tcim T A 8: 24,438,689 I70F probably benign Het
Thbd G A 2: 148,407,682 Q89* probably null Het
Tmem115 C T 9: 107,534,660 T61I probably damaging Het
Tsc2 A T 17: 24,613,285 V650E probably damaging Het
Tubgcp6 A T 15: 89,107,996 Y595* probably null Het
Uroc1 C T 6: 90,346,765 A398V probably damaging Het
Vmn1r31 T C 6: 58,472,602 T93A probably benign Het
Vmn2r113 A G 17: 22,956,050 E545G possibly damaging Het
Vps13a A G 19: 16,701,152 V1155A possibly damaging Het
Zfp667 A G 7: 6,304,870 H179R probably benign Het
Other mutations in Plod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Plod2 APN 9 92598614 missense probably damaging 0.99
IGL00945:Plod2 APN 9 92584496 missense probably benign 0.08
IGL01519:Plod2 APN 9 92595295 missense probably benign 0.00
IGL01836:Plod2 APN 9 92606498 splice site probably benign
IGL02490:Plod2 APN 9 92586842 missense probably benign 0.00
IGL02496:Plod2 APN 9 92607094 missense probably damaging 1.00
IGL02699:Plod2 APN 9 92607142 missense probably damaging 1.00
IGL02735:Plod2 APN 9 92595389 splice site probably benign
IGL03106:Plod2 APN 9 92573567 missense probably damaging 0.98
R0270:Plod2 UTSW 9 92584521 missense probably benign 0.10
R0546:Plod2 UTSW 9 92595335 missense probably damaging 1.00
R0589:Plod2 UTSW 9 92593746 missense probably benign
R0707:Plod2 UTSW 9 92605427 missense possibly damaging 0.91
R1491:Plod2 UTSW 9 92606584 missense probably benign 0.00
R1572:Plod2 UTSW 9 92603067 splice site probably benign
R1731:Plod2 UTSW 9 92584604 critical splice donor site probably null
R1895:Plod2 UTSW 9 92607135 missense probably damaging 1.00
R1917:Plod2 UTSW 9 92581257 missense probably benign
R1946:Plod2 UTSW 9 92607135 missense probably damaging 1.00
R3850:Plod2 UTSW 9 92542545 missense probably benign 0.28
R3973:Plod2 UTSW 9 92598619 nonsense probably null
R3974:Plod2 UTSW 9 92598619 nonsense probably null
R4289:Plod2 UTSW 9 92602988 missense possibly damaging 0.89
R4423:Plod2 UTSW 9 92601989 missense probably benign 0.00
R4647:Plod2 UTSW 9 92605450 nonsense probably null
R4754:Plod2 UTSW 9 92606531 nonsense probably null
R4769:Plod2 UTSW 9 92595272 missense probably damaging 1.00
R5279:Plod2 UTSW 9 92581323 missense probably damaging 1.00
R5535:Plod2 UTSW 9 92606569 missense probably damaging 1.00
R5654:Plod2 UTSW 9 92593823 missense probably benign
R5764:Plod2 UTSW 9 92603021 missense probably damaging 0.97
R5885:Plod2 UTSW 9 92606656 critical splice donor site probably null
R5940:Plod2 UTSW 9 92591397 missense probably benign 0.39
R6917:Plod2 UTSW 9 92593770 missense possibly damaging 0.87
R7109:Plod2 UTSW 9 92573597 missense probably damaging 1.00
R7221:Plod2 UTSW 9 92584527 missense probably damaging 1.00
R7311:Plod2 UTSW 9 92584558 missense probably damaging 1.00
R7963:Plod2 UTSW 9 92605446 missense probably benign 0.07
R8205:Plod2 UTSW 9 92542318 start gained probably benign
R8794:Plod2 UTSW 9 92600748 missense probably damaging 0.98
R8873:Plod2 UTSW 9 92607059 intron probably benign
R9044:Plod2 UTSW 9 92607220 missense probably damaging 0.97
R9071:Plod2 UTSW 9 92602995 missense probably benign 0.09
R9120:Plod2 UTSW 9 92542327 start gained probably benign
Z1088:Plod2 UTSW 9 92603035 missense probably benign
Posted On 2013-11-05