Mutagenetix > Incidental Mutation

Incidental Mutation 'R1731:Plod2'

199327

Institutional Source

Beutler Lab

Gene Symbol

Plod2

Ensembl Gene

ENSMUSG00000032374

Gene Name

procollagen lysine, 2-oxoglutarate 5-dioxygenase 2

Synonyms

Plod-2, LH2, lysyl hydroxylase 2, D530025C14Rik

MMRRC Submission

039763-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92424276-92490481 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 92466657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125373 (fasta)

Gene Model

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

AlphaFold

Q9R0B9

Predicted Effect

probably null
Transcript: ENSMUST00000070522

SMART Domains

Protein: ENSMUSP00000068611
Gene: ENSMUSG00000032374

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

noncoding transcript
Transcript: ENSMUST00000160142

Predicted Effect

probably null
Transcript: ENSMUST00000160359

SMART Domains

Protein: ENSMUSP00000125373
Gene: ENSMUSG00000032374

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,805 (GRCm39)	Y140F	probably damaging	Het
Adgrl4	T	G	3: 151,246,623 (GRCm39)	I641S	possibly damaging	Het
Aqp9	A	G	9: 71,030,250 (GRCm39)	I205T	possibly damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf2	C	T	2: 73,675,853 (GRCm39)	G123E	probably damaging	Het
Baz1a	T	C	12: 54,965,330 (GRCm39)	D708G	possibly damaging	Het
Calcrl	A	G	2: 84,175,512 (GRCm39)		probably null	Het
Capzb	T	A	4: 139,007,341 (GRCm39)	W110R	probably damaging	Het
Casp8ap2	A	T	4: 32,641,442 (GRCm39)	N832I	possibly damaging	Het
Cecr2	T	A	6: 120,735,141 (GRCm39)	H764Q	possibly damaging	Het
Cep131	T	C	11: 119,967,742 (GRCm39)		probably null	Het
Ces2e	T	C	8: 105,656,208 (GRCm39)	V173A	probably damaging	Het
Clstn3	T	C	6: 124,408,591 (GRCm39)	D944G	probably benign	Het
Cyb5rl	C	A	4: 106,938,110 (GRCm39)	A189E	probably damaging	Het
Cyp2c40	A	G	19: 39,801,133 (GRCm39)	S41P	probably damaging	Het
Dscam	A	G	16: 96,621,076 (GRCm39)	L544P	probably damaging	Het
Epha2	A	G	4: 141,049,063 (GRCm39)	K640E	possibly damaging	Het
Erap1	T	A	13: 74,814,241 (GRCm39)	C8*	probably null	Het
Fat3	A	G	9: 15,907,233 (GRCm39)	V2923A	probably benign	Het
Fat4	A	T	3: 38,945,459 (GRCm39)	I1451F	probably damaging	Het
Fcsk	A	T	8: 111,621,455 (GRCm39)	I163N	probably damaging	Het
Fzd6	G	A	15: 38,894,722 (GRCm39)	G296D	probably damaging	Het
Gm3486	T	A	14: 41,206,492 (GRCm39)	M194L	probably benign	Het
Gm5592	C	T	7: 40,937,837 (GRCm39)	A373V	probably damaging	Het
Hectd3	T	A	4: 116,853,652 (GRCm39)		probably null	Het
Hira	T	A	16: 18,751,764 (GRCm39)	V521E	probably benign	Het
Hsd17b6	A	G	10: 127,830,348 (GRCm39)	L141S	possibly damaging	Het
Idua	A	G	5: 108,829,538 (GRCm39)	D467G	probably benign	Het
Ikzf4	G	A	10: 128,470,401 (GRCm39)	P373L	probably benign	Het
Kcng1	T	C	2: 168,110,609 (GRCm39)	E185G	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lpcat4	T	C	2: 112,074,188 (GRCm39)	L250P	probably damaging	Het
Lrrc49	A	G	9: 60,528,914 (GRCm39)	Y281H	probably damaging	Het
Mta2	C	A	19: 8,925,088 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,782,386 (GRCm39)	I372T	possibly damaging	Het
Myocd	T	A	11: 65,091,714 (GRCm39)	N76I	probably benign	Het
Nav2	T	A	7: 49,197,922 (GRCm39)	Y1123N	probably damaging	Het
Otogl	A	T	10: 107,652,972 (GRCm39)	C1127S	probably damaging	Het
Pcdhb8	A	G	18: 37,488,891 (GRCm39)	K190E	probably damaging	Het
Pcnx1	A	G	12: 82,037,478 (GRCm39)	H1918R	probably damaging	Het
Pde2a	T	A	7: 101,150,867 (GRCm39)	Y272N	probably damaging	Het
Phldb3	T	C	7: 24,318,660 (GRCm39)	V313A	probably benign	Het
Plch2	C	T	4: 155,091,451 (GRCm39)	V116I	possibly damaging	Het
Ppfibp2	T	C	7: 107,339,796 (GRCm39)	Y730H	probably damaging	Het
Ptprh	T	C	7: 4,604,912 (GRCm39)	E44G	probably benign	Het
Rab11fip1	T	C	8: 27,642,438 (GRCm39)	E787G	probably damaging	Het
Rabep2	T	A	7: 126,043,444 (GRCm39)	L448Q	probably damaging	Het
Rbfox3	A	G	11: 118,387,762 (GRCm39)		probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf125	A	G	18: 21,110,873 (GRCm39)	T44A	probably benign	Het
Rusc2	G	T	4: 43,426,046 (GRCm39)	A1384S	probably benign	Het
Selp	T	A	1: 163,969,009 (GRCm39)	C536*	probably null	Het
Serpinb3c	G	A	1: 107,199,504 (GRCm39)	T339I	probably damaging	Het
Slc4a5	C	T	6: 83,273,617 (GRCm39)	R986C	probably damaging	Het
Slc8b1	T	C	5: 120,659,180 (GRCm39)	I208T	probably benign	Het
Sp3	G	A	2: 72,776,999 (GRCm39)	H533Y	probably damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tiam2	A	G	17: 3,568,698 (GRCm39)	R1615G	probably damaging	Het
Tie1	T	C	4: 118,333,460 (GRCm39)	E802G	probably damaging	Het
Tinagl1	A	G	4: 130,061,842 (GRCm39)	V164A	probably benign	Het
Vmn1r68	A	G	7: 10,261,802 (GRCm39)	Y99H	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r56	T	C	7: 12,466,972 (GRCm39)	T21A	probably benign	Het
Zfp108	C	A	7: 23,957,964 (GRCm39)	H34Q	possibly damaging	Het
Zfp267	T	A	3: 36,218,620 (GRCm39)	F214L	probably benign	Het
Zfp456	C	T	13: 67,514,674 (GRCm39)	S344N	probably benign	Het
Zscan22	T	C	7: 12,640,907 (GRCm39)	C384R	probably damaging	Het

Other mutations in Plod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02699:Plod2	APN	9	92,489,195 (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
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

Predicted Primers

PCR Primer
(F):5'- ACGGCGCTAACATTGACATGTGG -3'
(R):5'- TTGGACAAGGCTTCTGACTCGACC -3'

Sequencing Primer
(F):5'- CTAACATTGACATGTGGATGTGC -3'
(R):5'- TTCTGACTCGACCACTGAGAG -3'

Posted On

2014-05-23