Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:Plod1'

544116

Institutional Source

Beutler Lab

Gene Symbol

Plod1

Ensembl Gene

ENSMUSG00000019055

Gene Name

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

Synonyms

2410042F05Rik, LH1, lysyl hydroxylase 1

MMRRC Submission

045101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147994210-148021224 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 148000675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019199]

AlphaFold

Q9R0E2

Predicted Effect

probably benign
Transcript: ENSMUST00000019199

SMART Domains

Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
Blast:P4Hc	444	492	1e-8	BLAST
P4Hc	554	727	4.87e-26	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118857
Gene: ENSMUSG00000019055
AA Change: D215E

Domain	Start	End	E-Value	Type
Blast:P4Hc	31	136	5e-33	BLAST
Blast:P4Hc	141	269	4e-47	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the 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 VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,644,149 (GRCm39)	Y606C	probably benign	Het
Acad9	A	G	3: 36,139,630 (GRCm39)	Y410C	probably damaging	Het
Acot6	C	T	12: 84,156,149 (GRCm39)	P366S	probably damaging	Het
Adrm1b	T	C	3: 92,336,315 (GRCm39)		probably benign	Het
Anks1	G	T	17: 28,273,273 (GRCm39)	G964V	probably damaging	Het
Apol7a	A	T	15: 77,274,176 (GRCm39)		probably benign	Het
Arid3c	G	A	4: 41,725,087 (GRCm39)	A320V	probably damaging	Het
Bnip3l	A	T	14: 67,237,101 (GRCm39)	N50K	probably benign	Het
C1qtnf4	C	A	2: 90,720,297 (GRCm39)	A190D	probably benign	Het
Calhm5	A	T	10: 33,972,189 (GRCm39)	M82K	probably benign	Het
Cdcp3	G	T	7: 130,824,400 (GRCm39)	W165L	probably damaging	Het
Cdh1	G	T	8: 107,387,545 (GRCm39)	V482L	probably benign	Het
Cdrt4	A	C	11: 62,883,486 (GRCm39)	I63L	probably benign	Het
Cic	A	T	7: 24,970,736 (GRCm39)	T156S	possibly damaging	Het
Ckm	A	G	7: 19,154,156 (GRCm39)	N301S	probably benign	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Cop1	A	G	1: 159,134,154 (GRCm39)	D132G	probably damaging	Het
Cpd	G	T	11: 76,675,881 (GRCm39)	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,604,123 (GRCm39)	H411R	probably damaging	Het
Cyp2r1	A	T	7: 114,152,316 (GRCm39)	F5I	probably damaging	Het
Dclk3	T	A	9: 111,296,768 (GRCm39)	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,494,973 (GRCm39)	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,147,671 (GRCm39)	E365*	probably null	Het
Dst	A	T	1: 34,205,315 (GRCm39)	I502F	probably damaging	Het
Espl1	T	C	15: 102,212,535 (GRCm39)	V547A	possibly damaging	Het
Foxa1	C	T	12: 57,589,264 (GRCm39)	A319T	probably benign	Het
Frem1	G	T	4: 82,904,838 (GRCm39)	H859N	probably damaging	Het
Frem3	T	A	8: 81,339,208 (GRCm39)	D500E	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grip1	A	G	10: 119,822,375 (GRCm39)	D394G	probably damaging	Het
Gsap	C	A	5: 21,476,235 (GRCm39)	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,522,658 (GRCm39)	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,920,131 (GRCm39)	T115S	probably benign	Het
Kirrel2	A	C	7: 30,154,604 (GRCm39)	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,803,368 (GRCm39)	T397M	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lrig1	T	C	6: 94,588,610 (GRCm39)	D513G	possibly damaging	Het
Lrrk1	T	C	7: 65,942,090 (GRCm39)	D716G	probably damaging	Het
Matn4	G	A	2: 164,231,584 (GRCm39)	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374 (GRCm39)	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,489 (GRCm39)	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,165,578 (GRCm39)	D744G	possibly damaging	Het
Nampt	T	G	12: 32,898,742 (GRCm39)	Y453D	probably benign	Het
Nlrp12	A	G	7: 3,288,481 (GRCm39)	V677A	probably benign	Het
Ntng2	T	C	2: 29,087,080 (GRCm39)	N414S	probably damaging	Het
Or1e16	A	G	11: 73,286,410 (GRCm39)	V146A	probably benign	Het
Or4g17	A	G	2: 111,209,708 (GRCm39)	D121G	probably damaging	Het
Or5p52	A	G	7: 107,502,829 (GRCm39)	R302G	probably benign	Het
Or9m1b	A	C	2: 87,836,529 (GRCm39)	F189V	probably benign	Het
Parp4	A	C	14: 56,851,196 (GRCm39)	Q733P	probably damaging	Het
Pdcl3	G	A	1: 39,034,417 (GRCm39)	V56I	probably benign	Het
Pepd	A	G	7: 34,721,144 (GRCm39)	Y256C	probably damaging	Het
Plg	G	T	17: 12,637,938 (GRCm39)	R788L	probably benign	Het
Ptprc	A	G	1: 138,016,482 (GRCm39)	V513A	probably damaging	Het
Pxdn	T	C	12: 30,045,370 (GRCm39)	I373T	possibly damaging	Het
Qrfprl	A	T	6: 65,418,285 (GRCm39)	K151I	probably damaging	Het
Rbbp8	G	A	18: 11,851,965 (GRCm39)	G262E	probably damaging	Het
Rfc2	T	A	5: 134,623,104 (GRCm39)	Y240*	probably null	Het
Rps15	A	G	10: 80,129,598 (GRCm39)	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr1	A	C	7: 28,793,607 (GRCm39)	M1287R	probably damaging	Het
Scart2	G	A	7: 139,841,514 (GRCm39)	D273N	probably benign	Het
Serpina9	A	G	12: 103,967,495 (GRCm39)	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,234,606 (GRCm39)	A130T	probably damaging	Het
Slc12a8	G	A	16: 33,355,263 (GRCm39)	W26*	probably null	Het
Snx18	A	T	13: 113,731,265 (GRCm39)	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,543,321 (GRCm39)	T107I	probably benign	Het
Thap1	C	A	8: 26,652,679 (GRCm39)	T139K	probably damaging	Het
Tle4	T	A	19: 14,541,817 (GRCm39)		probably null	Het
Tmem87a	A	T	2: 120,193,409 (GRCm39)	M502K	possibly damaging	Het
Tpcn2	A	T	7: 144,810,522 (GRCm39)	V605E	probably benign	Het
Trgj1	C	A	13: 19,394,529 (GRCm39)		probably benign	Het
Tsc2	A	T	17: 24,847,028 (GRCm39)	V179E	probably damaging	Het
Ubap2l	T	C	3: 89,916,548 (GRCm39)	T909A	probably damaging	Het
Ubl4b	T	G	3: 107,462,140 (GRCm39)	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 21,035,277 (GRCm39)	D174G	probably damaging	Het
Vmn2r50	A	T	7: 9,779,964 (GRCm39)	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vmn2r74	T	A	7: 85,606,860 (GRCm39)		probably null	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Zfp335	G	A	2: 164,735,210 (GRCm39)	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,310,772 (GRCm39)	K327Q	probably benign	Het
Zwilch	G	A	9: 64,072,731 (GRCm39)	Q27*	probably null	Het

Other mutations in Plod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Plod1	APN	4	148,017,211 (GRCm39)	missense	probably benign	0.12
IGL02312:Plod1	APN	4	148,010,614 (GRCm39)	missense	probably benign	0.09
IGL02588:Plod1	APN	4	147,997,747 (GRCm39)	nonsense	probably null
IGL02712:Plod1	APN	4	148,003,344 (GRCm39)	missense	possibly damaging	0.95
IGL02976:Plod1	APN	4	147,997,778 (GRCm39)	missense	probably damaging	0.99
IGL03244:Plod1	APN	4	148,007,580 (GRCm39)	critical splice donor site	probably null
R0393:Plod1	UTSW	4	148,003,298 (GRCm39)	missense	probably null	0.35
R1216:Plod1	UTSW	4	148,005,584 (GRCm39)	missense	probably damaging	0.98
R1897:Plod1	UTSW	4	148,010,657 (GRCm39)	missense	probably damaging	0.97
R3776:Plod1	UTSW	4	148,015,734 (GRCm39)	missense	possibly damaging	0.75
R3923:Plod1	UTSW	4	148,000,280 (GRCm39)	missense	possibly damaging	0.62
R4718:Plod1	UTSW	4	148,000,701 (GRCm39)	intron	probably benign
R4897:Plod1	UTSW	4	148,004,736 (GRCm39)	missense	probably benign
R5173:Plod1	UTSW	4	148,000,758 (GRCm39)	intron	probably benign
R5657:Plod1	UTSW	4	148,003,238 (GRCm39)	missense	possibly damaging	0.46
R6298:Plod1	UTSW	4	148,000,772 (GRCm39)	intron	probably benign
R7176:Plod1	UTSW	4	147,997,744 (GRCm39)	missense	probably benign	0.00
R7632:Plod1	UTSW	4	148,011,481 (GRCm39)	missense	probably damaging	1.00
R8059:Plod1	UTSW	4	148,012,941 (GRCm39)	missense	probably damaging	1.00
R8167:Plod1	UTSW	4	148,004,658 (GRCm39)	missense	probably damaging	1.00
R8804:Plod1	UTSW	4	147,997,778 (GRCm39)	missense	probably damaging	0.99
R8909:Plod1	UTSW	4	148,011,563 (GRCm39)	nonsense	probably null
R8986:Plod1	UTSW	4	147,997,734 (GRCm39)	missense	probably damaging	0.99
R9245:Plod1	UTSW	4	148,010,626 (GRCm39)	missense	possibly damaging	0.86
R9646:Plod1	UTSW	4	148,016,112 (GRCm39)	missense	probably benign	0.03
X0013:Plod1	UTSW	4	148,011,499 (GRCm39)	missense	possibly damaging	0.70
Y5406:Plod1	UTSW	4	148,015,644 (GRCm39)	missense	probably damaging	1.00
Y5408:Plod1	UTSW	4	148,015,644 (GRCm39)	missense	probably damaging	1.00
Z1176:Plod1	UTSW	4	148,007,657 (GRCm39)	missense	probably damaging	0.99
Z1177:Plod1	UTSW	4	148,016,178 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAAGATGGCACCCAGACTCC -3'
(R):5'- GCCTCAGTGAATAGTAGCTCCTG -3'

Sequencing Primer
(F):5'- CCCTTGACTTTGGTACAGATAGGAC -3'
(R):5'- TGCTGAGTGTCCCAAGACTCTAAG -3'

Posted On

2019-05-13