Incidental Mutation 'IGL01443:Plod3'
ID 84304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plod3
Ensembl Gene ENSMUSG00000004846
Gene Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Synonyms LH3, lysyl hydroxylase 3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01443
Quality Score
Status
Chromosome 5
Chromosomal Location 137015873-137025500 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137019075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 320 (R320H)
Ref Sequence ENSEMBL: ENSMUSP00000004968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004968] [ENSMUST00000034953] [ENSMUST00000085941] [ENSMUST00000111090] [ENSMUST00000111091] [ENSMUST00000137272] [ENSMUST00000156963]
AlphaFold Q9R0E1
Predicted Effect probably benign
Transcript: ENSMUST00000004968
AA Change: R320H

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000004968
Gene: ENSMUSG00000004846
AA Change: R320H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 312 324 N/A INTRINSIC
Blast:P4Hc 456 502 2e-8 BLAST
P4Hc 567 740 1.43e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034953
SMART Domains Protein: ENSMUSP00000034953
Gene: ENSMUSG00000059518

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:zf-HIT 112 141 6.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085941
SMART Domains Protein: ENSMUSP00000083103
Gene: ENSMUSG00000059518

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
Pfam:zf-HIT 113 142 3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102285
Predicted Effect probably benign
Transcript: ENSMUST00000111090
SMART Domains Protein: ENSMUSP00000106719
Gene: ENSMUSG00000059518

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:zf-HIT 112 141 2.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111091
SMART Domains Protein: ENSMUSP00000106720
Gene: ENSMUSG00000059518

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
low complexity region 63 78 N/A INTRINSIC
Pfam:zf-HIT 117 146 2.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151642
Predicted Effect probably benign
Transcript: ENSMUST00000127100
SMART Domains Protein: ENSMUSP00000123550
Gene: ENSMUSG00000004846

DomainStartEndE-ValueType
Blast:P4Hc 2 35 2e-11 BLAST
P4Hc 38 200 3.04e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137272
SMART Domains Protein: ENSMUSP00000120331
Gene: ENSMUSG00000059518

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156963
SMART Domains Protein: ENSMUSP00000115929
Gene: ENSMUSG00000059518

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:zf-HIT 112 141 6.7e-13 PFAM
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality, reduced embryonic growth, fragility, and fragmented basement membranes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,694,690 (GRCm39) E1159G possibly damaging Het
Adgrl3 A G 5: 81,613,134 (GRCm39) Y189C probably damaging Het
AW554918 G A 18: 25,478,012 (GRCm39) G446R probably damaging Het
Baiap3 A G 17: 25,464,121 (GRCm39) F884S possibly damaging Het
Cd101 T C 3: 100,910,887 (GRCm39) T924A probably benign Het
Cdk12 T A 11: 98,136,295 (GRCm39) V1183E unknown Het
Clcc1 T C 3: 108,578,219 (GRCm39) M240T probably benign Het
Dnmbp C A 19: 43,891,309 (GRCm39) A153S probably damaging Het
Dus4l T C 12: 31,702,409 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,485,943 (GRCm39) E430G probably benign Het
Erc1 T C 6: 119,801,432 (GRCm39) K195R probably damaging Het
Evpl T C 11: 116,113,280 (GRCm39) E1470G probably damaging Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fam135b A T 15: 71,335,213 (GRCm39) H660Q probably benign Het
Fat1 G A 8: 45,493,613 (GRCm39) G3920S probably damaging Het
Fbxo38 A G 18: 62,666,741 (GRCm39) V144A probably damaging Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Hdlbp T C 1: 93,358,796 (GRCm39) T252A probably damaging Het
Igkv3-1 A G 6: 70,681,088 (GRCm39) S96G possibly damaging Het
Igkv4-68 G T 6: 69,281,921 (GRCm39) F83L probably damaging Het
Klhl31 T C 9: 77,557,542 (GRCm39) V86A possibly damaging Het
Lypd3 G A 7: 24,336,063 (GRCm39) G17R probably benign Het
Manba T A 3: 135,250,589 (GRCm39) D405E probably damaging Het
Map3k19 A G 1: 127,766,244 (GRCm39) S227P probably benign Het
Nras T A 3: 102,969,751 (GRCm39) C118S probably benign Het
Or52n20 A G 7: 104,320,278 (GRCm39) D123G probably damaging Het
Pde8a T C 7: 80,973,929 (GRCm39) F629L probably damaging Het
Phtf2 A G 5: 20,987,265 (GRCm39) probably benign Het
Pik3c2a A T 7: 116,017,429 (GRCm39) F109L probably benign Het
Ppib T C 9: 65,972,879 (GRCm39) F152L probably damaging Het
Rbm19 T C 5: 120,281,503 (GRCm39) probably benign Het
Rgs12 T A 5: 35,132,563 (GRCm39) S628R probably benign Het
Ripk1 A G 13: 34,199,251 (GRCm39) D201G probably damaging Het
Speer4c2 A G 5: 15,857,642 (GRCm39) *212Q probably null Het
St14 G T 9: 31,011,489 (GRCm39) S434* probably null Het
Tbc1d9 A G 8: 83,966,560 (GRCm39) D387G probably damaging Het
Trio A G 15: 27,838,861 (GRCm39) probably benign Het
Ttn G A 2: 76,544,215 (GRCm39) R32924C probably damaging Het
Vmn1r181 T C 7: 23,684,006 (GRCm39) V157A possibly damaging Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Plod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Plod3 APN 5 137,025,030 (GRCm39) missense possibly damaging 0.78
IGL01090:Plod3 APN 5 137,019,090 (GRCm39) missense probably benign 0.37
IGL01583:Plod3 APN 5 137,025,002 (GRCm39) missense probably benign 0.02
R0544:Plod3 UTSW 5 137,020,465 (GRCm39) missense probably benign 0.09
R0747:Plod3 UTSW 5 137,017,049 (GRCm39) missense probably benign 0.34
R0764:Plod3 UTSW 5 137,018,437 (GRCm39) unclassified probably benign
R1520:Plod3 UTSW 5 137,020,165 (GRCm39) missense probably damaging 0.99
R1631:Plod3 UTSW 5 137,017,847 (GRCm39) missense probably damaging 1.00
R1751:Plod3 UTSW 5 137,019,030 (GRCm39) missense possibly damaging 0.89
R1767:Plod3 UTSW 5 137,019,030 (GRCm39) missense possibly damaging 0.89
R1984:Plod3 UTSW 5 137,019,707 (GRCm39) splice site probably null
R1985:Plod3 UTSW 5 137,019,707 (GRCm39) splice site probably null
R2137:Plod3 UTSW 5 137,017,571 (GRCm39) missense probably damaging 1.00
R2148:Plod3 UTSW 5 137,016,627 (GRCm39) nonsense probably null
R2179:Plod3 UTSW 5 137,019,862 (GRCm39) missense possibly damaging 0.77
R2318:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R2319:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R2512:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R2513:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R2696:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R2891:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R2893:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R3030:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R3439:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R3957:Plod3 UTSW 5 137,023,046 (GRCm39) missense probably damaging 1.00
R4080:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R4081:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R4342:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R4344:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R4345:Plod3 UTSW 5 137,017,000 (GRCm39) missense probably benign 0.38
R4546:Plod3 UTSW 5 137,017,801 (GRCm39) missense possibly damaging 0.94
R4799:Plod3 UTSW 5 137,019,654 (GRCm39) missense probably benign 0.00
R4843:Plod3 UTSW 5 137,019,854 (GRCm39) nonsense probably null
R4956:Plod3 UTSW 5 137,018,772 (GRCm39) missense probably damaging 1.00
R5159:Plod3 UTSW 5 137,023,932 (GRCm39) intron probably benign
R5162:Plod3 UTSW 5 137,020,161 (GRCm39) missense probably damaging 1.00
R5328:Plod3 UTSW 5 137,018,537 (GRCm39) missense probably damaging 1.00
R5427:Plod3 UTSW 5 137,020,642 (GRCm39) missense probably damaging 1.00
R6627:Plod3 UTSW 5 137,017,310 (GRCm39) missense probably damaging 0.99
R7003:Plod3 UTSW 5 137,018,498 (GRCm39) missense probably damaging 1.00
R7132:Plod3 UTSW 5 137,023,971 (GRCm39) missense
R7376:Plod3 UTSW 5 137,019,335 (GRCm39) missense probably benign 0.00
R7404:Plod3 UTSW 5 137,023,901 (GRCm39) missense probably benign
R7827:Plod3 UTSW 5 137,018,835 (GRCm39) missense probably benign
R8062:Plod3 UTSW 5 137,019,123 (GRCm39) missense possibly damaging 0.87
R8506:Plod3 UTSW 5 137,017,830 (GRCm39) missense probably damaging 1.00
R8772:Plod3 UTSW 5 137,017,773 (GRCm39) missense probably damaging 0.99
R9108:Plod3 UTSW 5 137,018,017 (GRCm39) missense probably damaging 0.99
R9439:Plod3 UTSW 5 137,023,036 (GRCm39) missense probably benign 0.03
R9788:Plod3 UTSW 5 137,019,911 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11