Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Plod2'

295851

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

92542223-92608428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92607094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 714 (L714Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070522] [ENSMUST00000160359]

AlphaFold

Q9R0B9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070522
AA Change: L693Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068611
Gene: ENSMUSG00000032374
AA Change: L693Q

Domain	Start	End	E-Value	Type
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: L714Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125373
Gene: ENSMUSG00000032374
AA Change: L714Q

Domain	Start	End	E-Value	Type
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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Plod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Plod2	APN	9	92598614	missense	probably damaging	0.99
IGL00945:Plod2	APN	9	92584496	missense	probably benign	0.08
IGL01386:Plod2	APN	9	92606602	missense	probably damaging	0.99
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
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

2015-04-16