Incidental Mutation 'R7311:Plod2'
ID 567595
Institutional Source Beutler Lab
Gene Symbol Plod2
Ensembl Gene ENSMUSG00000032374
Gene Name procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
Synonyms D530025C14Rik, Plod-2, LH2, lysyl hydroxylase 2
MMRRC Submission 045367-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 92542223-92608428 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92584558 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 190 (D190E)
Ref Sequence ENSEMBL: ENSMUSP00000125373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070522] [ENSMUST00000160359]
AlphaFold Q9R0B9
Predicted Effect probably damaging
Transcript: ENSMUST00000070522
AA Change: D190E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068611
Gene: ENSMUSG00000032374
AA Change: D190E

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: D190E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125373
Gene: ENSMUSG00000032374
AA Change: D190E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,668,750 (GRCm38) V118A probably benign Het
Accsl C T 2: 93,865,815 (GRCm38) G146D possibly damaging Het
Acsm1 A T 7: 119,638,082 (GRCm38) H206L probably damaging Het
Acta2 A G 19: 34,241,786 (GRCm38) Y339H probably damaging Het
Adcy2 T C 13: 68,630,954 (GRCm38) D989G probably damaging Het
Ahnak A G 19: 9,009,827 (GRCm38) D2825G possibly damaging Het
Ahnak G A 19: 9,002,143 (GRCm38) A264T probably benign Het
Akt1 G T 12: 112,657,153 (GRCm38) T291K probably damaging Het
Arhgap24 A G 5: 102,892,685 (GRCm38) D589G probably damaging Het
B4galnt3 G A 6: 120,215,435 (GRCm38) Q447* probably null Het
BC024063 C T 10: 82,110,159 (GRCm38) R538C possibly damaging Het
Bod1l A G 5: 41,794,333 (GRCm38) S2912P possibly damaging Het
Bysl A G 17: 47,601,785 (GRCm38) V360A possibly damaging Het
C1qb A G 4: 136,880,566 (GRCm38) V162A possibly damaging Het
Ccdc57 G A 11: 120,873,741 (GRCm38) P736L probably benign Het
Cep290 T A 10: 100,537,718 (GRCm38) F1287I probably damaging Het
Cntn1 T C 15: 92,232,275 (GRCm38) probably null Het
Col6a3 C T 1: 90,822,291 (GRCm38) G274R probably damaging Het
Cplane1 G T 15: 8,180,915 (GRCm38) V291F probably damaging Het
Cyb5r4 T C 9: 87,055,782 (GRCm38) C285R probably damaging Het
Cyp4f39 G A 17: 32,489,655 (GRCm38) C392Y probably damaging Het
Dcun1d3 A T 7: 119,859,511 (GRCm38) D100E probably damaging Het
Dhx58 A T 11: 100,698,171 (GRCm38) D516E probably benign Het
Dock5 T A 14: 67,828,502 (GRCm38) I351F probably benign Het
Elmod2 A C 8: 83,319,412 (GRCm38) probably null Het
Endov G A 11: 119,507,251 (GRCm38) A281T probably benign Het
Epyc A G 10: 97,649,700 (GRCm38) M1V probably null Het
Espnl T A 1: 91,323,568 (GRCm38) H128Q probably damaging Het
Fam20a A T 11: 109,674,628 (GRCm38) C452* probably null Het
Fam241b A G 10: 62,108,954 (GRCm38) V88A probably damaging Het
Fbxl9 A G 8: 105,315,667 (GRCm38) probably benign Het
Fgd3 A T 13: 49,296,690 (GRCm38) S28T possibly damaging Het
Fmn1 C A 2: 113,525,680 (GRCm38) P920Q unknown Het
Gpr139 G C 7: 119,144,866 (GRCm38) D165E probably benign Het
Hoxb1 A G 11: 96,367,101 (GRCm38) T286A possibly damaging Het
Ifi204 T A 1: 173,759,568 (GRCm38) E174D probably benign Het
Igf2bp2 A G 16: 22,061,882 (GRCm38) I555T possibly damaging Het
Ighv1-85 A G 12: 116,000,179 (GRCm38) I67T probably damaging Het
Ihh G C 1: 74,951,147 (GRCm38) P23R unknown Het
Irx2 T C 13: 72,631,277 (GRCm38) S227P probably damaging Het
Itga4 A G 2: 79,256,182 (GRCm38) I68V probably benign Het
Jsrp1 T A 10: 80,812,072 (GRCm38) T51S probably benign Het
Khdc4 T C 3: 88,711,695 (GRCm38) S569P probably damaging Het
Kifc2 G T 15: 76,662,810 (GRCm38) G306V probably damaging Het
L3mbtl2 T A 15: 81,667,387 (GRCm38) S85T possibly damaging Het
Lama1 T C 17: 67,767,385 (GRCm38) S944P Het
Lama4 T A 10: 39,026,635 (GRCm38) C202S probably damaging Het
Morc3 G A 16: 93,849,173 (GRCm38) D218N probably damaging Het
Mrtfb T A 16: 13,405,854 (GRCm38) Y866* probably null Het
Myorg A G 4: 41,498,577 (GRCm38) I351T probably damaging Het
N4bp2l1 G A 5: 150,572,924 (GRCm38) T179I probably damaging Het
Narf A G 11: 121,249,150 (GRCm38) E270G probably benign Het
Nsd2 A G 5: 33,892,036 (GRCm38) D1205G probably damaging Het
Or10x1 T C 1: 174,369,193 (GRCm38) V92A probably benign Het
Or5an11 T C 19: 12,268,704 (GRCm38) V158A probably benign Het
Parl T C 16: 20,287,875 (GRCm38) T195A probably benign Het
Phrf1 A G 7: 141,240,933 (GRCm38) I158V unknown Het
Phtf1 T C 3: 103,997,664 (GRCm38) F543L possibly damaging Het
Polr1a G T 6: 71,950,879 (GRCm38) K871N possibly damaging Het
Ppp2r5a A T 1: 191,357,801 (GRCm38) I252K probably damaging Het
Ptgir T A 7: 16,907,048 (GRCm38) D88E probably damaging Het
Raly T C 2: 154,857,420 (GRCm38) V48A probably damaging Het
Ripor1 T A 8: 105,617,815 (GRCm38) L527* probably null Het
Rnf213 T C 11: 119,416,547 (GRCm38) S678P Het
Rpf1 T A 3: 146,507,163 (GRCm38) Q306L probably benign Het
Rpl14 T C 9: 120,574,105 (GRCm38) I122T probably damaging Het
Scn9a C A 2: 66,484,404 (GRCm38) A1657S possibly damaging Het
Serpinb10 A G 1: 107,546,747 (GRCm38) Y213C probably damaging Het
Slc25a23 A G 17: 57,052,827 (GRCm38) L308P probably damaging Het
Smg9 T A 7: 24,420,633 (GRCm38) M387K probably benign Het
Socs3 G A 11: 117,967,788 (GRCm38) P148L probably benign Het
Susd3 A G 13: 49,248,430 (GRCm38) L14P probably benign Het
Syt14 T A 1: 192,980,550 (GRCm38) M80L probably benign Het
Tmprss2 T A 16: 97,568,416 (GRCm38) Y386F possibly damaging Het
Tmx3 T A 18: 90,540,071 (GRCm38) S416T probably benign Het
Treh A G 9: 44,685,948 (GRCm38) T555A probably benign Het
Ttc5 T G 14: 50,765,943 (GRCm38) Q428P probably damaging Het
Vmn2r73 A G 7: 85,871,984 (GRCm38) S259P possibly damaging Het
Vps4b A T 1: 106,791,704 (GRCm38) V38E probably damaging Het
Wdr83 C A 8: 85,076,261 (GRCm38) R177L probably benign Het
Zfp780b A G 7: 27,963,163 (GRCm38) F656L possibly damaging Het
Zfp995 A T 17: 21,880,660 (GRCm38) F198I probably benign Het
Zswim8 A T 14: 20,721,484 (GRCm38) Y1495F probably damaging Het
Other mutations in Plod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Plod2 APN 9 92,598,614 (GRCm38) missense probably damaging 0.99
IGL00945:Plod2 APN 9 92,584,496 (GRCm38) missense probably benign 0.08
IGL01386:Plod2 APN 9 92,606,602 (GRCm38) missense probably damaging 0.99
IGL01519:Plod2 APN 9 92,595,295 (GRCm38) missense probably benign 0.00
IGL01836:Plod2 APN 9 92,606,498 (GRCm38) splice site probably benign
IGL02490:Plod2 APN 9 92,586,842 (GRCm38) missense probably benign 0.00
IGL02496:Plod2 APN 9 92,607,094 (GRCm38) missense probably damaging 1.00
IGL02699:Plod2 APN 9 92,607,142 (GRCm38) missense probably damaging 1.00
IGL02735:Plod2 APN 9 92,595,389 (GRCm38) splice site probably benign
IGL03106:Plod2 APN 9 92,573,567 (GRCm38) missense probably damaging 0.98
R0270:Plod2 UTSW 9 92,584,521 (GRCm38) missense probably benign 0.10
R0546:Plod2 UTSW 9 92,595,335 (GRCm38) missense probably damaging 1.00
R0589:Plod2 UTSW 9 92,593,746 (GRCm38) missense probably benign
R0707:Plod2 UTSW 9 92,605,427 (GRCm38) missense possibly damaging 0.91
R1491:Plod2 UTSW 9 92,606,584 (GRCm38) missense probably benign 0.00
R1572:Plod2 UTSW 9 92,603,067 (GRCm38) splice site probably benign
R1731:Plod2 UTSW 9 92,584,604 (GRCm38) critical splice donor site probably null
R1895:Plod2 UTSW 9 92,607,135 (GRCm38) missense probably damaging 1.00
R1917:Plod2 UTSW 9 92,581,257 (GRCm38) missense probably benign
R1946:Plod2 UTSW 9 92,607,135 (GRCm38) missense probably damaging 1.00
R3850:Plod2 UTSW 9 92,542,545 (GRCm38) missense probably benign 0.28
R3973:Plod2 UTSW 9 92,598,619 (GRCm38) nonsense probably null
R3974:Plod2 UTSW 9 92,598,619 (GRCm38) nonsense probably null
R4289:Plod2 UTSW 9 92,602,988 (GRCm38) missense possibly damaging 0.89
R4423:Plod2 UTSW 9 92,601,989 (GRCm38) missense probably benign 0.00
R4647:Plod2 UTSW 9 92,605,450 (GRCm38) nonsense probably null
R4754:Plod2 UTSW 9 92,606,531 (GRCm38) nonsense probably null
R4769:Plod2 UTSW 9 92,595,272 (GRCm38) missense probably damaging 1.00
R5279:Plod2 UTSW 9 92,581,323 (GRCm38) missense probably damaging 1.00
R5535:Plod2 UTSW 9 92,606,569 (GRCm38) missense probably damaging 1.00
R5654:Plod2 UTSW 9 92,593,823 (GRCm38) missense probably benign
R5764:Plod2 UTSW 9 92,603,021 (GRCm38) missense probably damaging 0.97
R5885:Plod2 UTSW 9 92,606,656 (GRCm38) critical splice donor site probably null
R5940:Plod2 UTSW 9 92,591,397 (GRCm38) missense probably benign 0.39
R6917:Plod2 UTSW 9 92,593,770 (GRCm38) missense possibly damaging 0.87
R7109:Plod2 UTSW 9 92,573,597 (GRCm38) missense probably damaging 1.00
R7221:Plod2 UTSW 9 92,584,527 (GRCm38) missense probably damaging 1.00
R7963:Plod2 UTSW 9 92,605,446 (GRCm38) missense probably benign 0.07
R8205:Plod2 UTSW 9 92,542,318 (GRCm38) start gained probably benign
R8794:Plod2 UTSW 9 92,600,748 (GRCm38) missense probably damaging 0.98
R8873:Plod2 UTSW 9 92,607,059 (GRCm38) intron probably benign
R9044:Plod2 UTSW 9 92,607,220 (GRCm38) missense probably damaging 0.97
R9071:Plod2 UTSW 9 92,602,995 (GRCm38) missense probably benign 0.09
R9120:Plod2 UTSW 9 92,542,327 (GRCm38) start gained probably benign
Z1088:Plod2 UTSW 9 92,603,035 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTTAGACCTCATGACTTCCCAGC -3'
(R):5'- CACCACTCCATGCTGGTTAC -3'

Sequencing Primer
(F):5'- ATGACTTCCCAGCATTGTCAG -3'
(R):5'- ATTTCTAACTGTGATGGGACCCAC -3'
Posted On 2019-06-26