Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01090:Plod3'

51081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plod3

Ensembl Gene

ENSMUSG00000004846

Gene Name

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3

Synonyms

lysyl hydroxylase 3, LH3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

136987019-136996648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136990236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 325 (D325G)

Ref Sequence

ENSEMBL: ENSMUSP00000004968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004968] [ENSMUST00000034953] [ENSMUST00000085941] [ENSMUST00000111090] [ENSMUST00000111091] [ENSMUST00000137272] [ENSMUST00000156963]

AlphaFold

Q9R0E1

Predicted Effect

probably benign
Transcript: ENSMUST00000004968
AA Change: D325G

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000004968
Gene: ENSMUSG00000004846
AA Change: D325G

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

probably benign
Transcript: ENSMUST00000034953

SMART Domains

Protein: ENSMUSP00000034953
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:zf-HIT	112	141	6.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085941

SMART Domains

Protein: ENSMUSP00000083103
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
Pfam:zf-HIT	113	142	3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102285

Predicted Effect

probably benign
Transcript: ENSMUST00000111090

SMART Domains

Protein: ENSMUSP00000106719
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:zf-HIT	112	141	2.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111091

SMART Domains

Protein: ENSMUSP00000106720
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
low complexity region	63	78	N/A	INTRINSIC
Pfam:zf-HIT	117	146	2.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127100

SMART Domains

Protein: ENSMUSP00000123550
Gene: ENSMUSG00000004846

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129896

Predicted Effect

probably benign
Transcript: ENSMUST00000137272

SMART Domains

Protein: ENSMUSP00000120331
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151642

Predicted Effect

probably benign
Transcript: ENSMUST00000156963

SMART Domains

Protein: ENSMUSP00000115929
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:zf-HIT	112	141	6.7e-13	PFAM

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. [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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,919,118	S316P	possibly damaging	Het
Actn1	A	T	12: 80,199,072		probably null	Het
Agbl3	T	C	6: 34,799,887	Y443H	probably benign	Het
Akap13	T	A	7: 75,666,531	D578E	probably benign	Het
Aldoa	A	T	7: 126,796,035	H292Q	probably benign	Het
Als2	T	C	1: 59,215,616	K194R	possibly damaging	Het
Bivm	C	A	1: 44,129,291	H244N	probably damaging	Het
Cabp5	G	A	7: 13,405,487	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clcn4	A	G	7: 7,294,036	V129A	probably benign	Het
Clec4g	A	G	8: 3,719,482	S54P	probably damaging	Het
Crim1	G	T	17: 78,347,229	V645L	probably damaging	Het
Csta1	T	C	16: 36,125,051	T31A	probably damaging	Het
D930048N14Rik	T	C	11: 51,653,783		probably benign	Het
Dhx34	G	T	7: 16,216,256	P329Q	probably damaging	Het
Dusp16	T	C	6: 134,725,949	N193S	probably benign	Het
Fbn1	A	G	2: 125,394,776		probably benign	Het
Fbxo46	A	G	7: 19,136,803	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,809,785		probably null	Het
Foxi3	C	A	6: 70,960,745	N320K	probably damaging	Het
Gm9964	A	G	11: 79,296,384	L79P	unknown	Het
Gpr161	T	C	1: 165,306,580	I137T	probably damaging	Het
Herc1	C	T	9: 66,469,175	Q3426*	probably null	Het
Hps5	C	T	7: 46,788,327	R108H	probably benign	Het
Itch	T	A	2: 155,206,336	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,966,005	P520H	probably damaging	Het
Mvp	A	G	7: 126,989,687	V636A	probably benign	Het
Odf4	A	G	11: 68,921,952		probably benign	Het
Olfr830	A	G	9: 18,876,242	K305R	probably benign	Het
Pld1	T	C	3: 28,088,667	S675P	probably benign	Het
Prss12	T	C	3: 123,482,739	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,541,314	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,930,387		probably benign	Het
Rasa4	A	G	5: 136,101,993	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,409,394	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,047,233	I139T	probably benign	Het
Sspo	T	A	6: 48,490,125	S4017T	probably benign	Het
Tcaf1	C	A	6: 42,686,622	C108F	probably benign	Het
Tnc	T	C	4: 64,000,080	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,939,683	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,007	E713V	probably damaging	Het
Ugt2b34	C	A	5: 86,893,820	V338F	probably damaging	Het
Usp40	T	A	1: 87,962,465	M892L	probably benign	Het
Usp54	A	T	14: 20,586,157		probably benign	Het
Vmn2r53	T	C	7: 12,600,908	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,497,378	M1T	probably null	Het
Wdr66	A	C	5: 123,279,989		probably benign	Het
Wdr83os	A	T	8: 85,081,847	D76V	probably damaging	Het

Other mutations in Plod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Plod3	APN	5	136996176	missense	possibly damaging	0.78
IGL01443:Plod3	APN	5	136990221	missense	probably benign	0.17
IGL01583:Plod3	APN	5	136996148	missense	probably benign	0.02
R0544:Plod3	UTSW	5	136991611	missense	probably benign	0.09
R0747:Plod3	UTSW	5	136988195	missense	probably benign	0.34
R0764:Plod3	UTSW	5	136989583	unclassified	probably benign
R1520:Plod3	UTSW	5	136991311	missense	probably damaging	0.99
R1631:Plod3	UTSW	5	136988993	missense	probably damaging	1.00
R1751:Plod3	UTSW	5	136990176	missense	possibly damaging	0.89
R1767:Plod3	UTSW	5	136990176	missense	possibly damaging	0.89
R1984:Plod3	UTSW	5	136990853	splice site	probably null
R1985:Plod3	UTSW	5	136990853	splice site	probably null
R2137:Plod3	UTSW	5	136988717	missense	probably damaging	1.00
R2148:Plod3	UTSW	5	136987773	nonsense	probably null
R2179:Plod3	UTSW	5	136991008	missense	possibly damaging	0.77
R2318:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R2319:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R2512:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R2513:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R2696:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R2891:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R2893:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R3030:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R3439:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R3957:Plod3	UTSW	5	136994192	missense	probably damaging	1.00
R4080:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R4081:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R4342:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R4344:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R4345:Plod3	UTSW	5	136988146	missense	probably benign	0.38
R4546:Plod3	UTSW	5	136988947	missense	possibly damaging	0.94
R4799:Plod3	UTSW	5	136990800	missense	probably benign	0.00
R4843:Plod3	UTSW	5	136991000	nonsense	probably null
R4956:Plod3	UTSW	5	136989918	missense	probably damaging	1.00
R5159:Plod3	UTSW	5	136995078	intron	probably benign
R5162:Plod3	UTSW	5	136991307	missense	probably damaging	1.00
R5328:Plod3	UTSW	5	136989683	missense	probably damaging	1.00
R5427:Plod3	UTSW	5	136991788	missense	probably damaging	1.00
R6627:Plod3	UTSW	5	136988456	missense	probably damaging	0.99
R7003:Plod3	UTSW	5	136989644	missense	probably damaging	1.00
R7132:Plod3	UTSW	5	136995117	missense
R7376:Plod3	UTSW	5	136990481	missense	probably benign	0.00
R7404:Plod3	UTSW	5	136995047	missense	probably benign
R7827:Plod3	UTSW	5	136989981	missense	probably benign
R8062:Plod3	UTSW	5	136990269	missense	possibly damaging	0.87
R8506:Plod3	UTSW	5	136988976	missense	probably damaging	1.00
R8772:Plod3	UTSW	5	136988919	missense	probably damaging	0.99
R9108:Plod3	UTSW	5	136989163	missense	probably damaging	0.99
R9439:Plod3	UTSW	5	136994182	missense	probably benign	0.03

Posted On

2013-06-21