Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:Plod3'

552741

Institutional Source

Beutler Lab

Gene Symbol

Plod3

Ensembl Gene

ENSMUSG00000004846

Gene Name

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3

Synonyms

LH3, lysyl hydroxylase 3

MMRRC Submission

045217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137015873-137025500 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137023971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 180 (L180S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004968]

AlphaFold

Q9R0E1

Predicted Effect

probably benign
Transcript: ENSMUST00000004968

SMART Domains

Protein: ENSMUSP00000004968
Gene: ENSMUSG00000004846

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000123550
Gene: ENSMUSG00000004846
AA Change: L180S

Domain	Start	End	E-Value	Type
Blast:P4Hc	2	35	2e-11	BLAST
P4Hc	38	200	3.04e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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. [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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,619,412 (GRCm39)	Y277*	probably null	Het
App	T	C	16: 84,853,370 (GRCm39)	D236G	unknown	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Asl	A	G	5: 130,043,543 (GRCm39)	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cbx2	A	G	11: 118,913,947 (GRCm39)	S5G	probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,605,963 (GRCm39)	L696*	probably null	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trap1	A	G	16: 3,873,693 (GRCm39)	Y288H	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (GRCm39)		probably null	Het

Other mutations in Plod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01443:Plod3	APN	5	137,019,075 (GRCm39)	missense	probably benign	0.17
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTCGTGGTCCGCTAC -3'
(R):5'- CGTCACCAGTGGAGTCCTG -3'

Sequencing Primer
(F):5'- TACCGGCCAGATGAGCAG -3'
(R):5'- AAGCAGCATCATGGCTTCTG -3'

Posted On

2019-05-15