Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:P3h2'

54017

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P3h2

Ensembl Gene

ENSMUSG00000038168

Gene Name

prolyl 3-hydroxylase 2

Synonyms

Leprel1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

25778038-25924534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25805998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 282 (C282G)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039990]

AlphaFold

Q8CG71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039990
AA Change: C282G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: C282G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	27	36	N/A	INTRINSIC
Pfam:TPR_2	42	73	2.5e-5	PFAM
low complexity region	81	104	N/A	INTRINSIC
low complexity region	114	123	N/A	INTRINSIC
Pfam:TPR_2	206	237	1.2e-5	PFAM
low complexity region	253	266	N/A	INTRINSIC
internal_repeat_1	304	366	4.75e-7	PROSPERO
P4Hc	457	665	1.45e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161878

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of exon 2 exhibit embryonic lethality between E8.5 and E12.5 with maternal platelets aggregate around the ectoplacental cone. Exon 3 knockouts are viable but mice exhibit reduced hydroxylation of collagen chains, especially in the sclera, leading to eye tissue dysmorphology and progressive myopia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cd300ld2	T	A	11: 114,903,123 (GRCm39)	I241F	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itgb7	G	A	15: 102,136,020 (GRCm39)	S5L	probably benign	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krt81	T	C	15: 101,358,900 (GRCm39)	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,823,503 (GRCm39)	I181T	possibly damaging	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Sod2	C	T	17: 13,232,464 (GRCm39)	A163V	possibly damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Trim54	T	G	5: 31,294,302 (GRCm39)	S313A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	Het

Other mutations in P3h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:P3h2	APN	16	25,811,548 (GRCm39)	missense	probably damaging	1.00
IGL02393:P3h2	APN	16	25,811,575 (GRCm39)	missense	probably damaging	1.00
IGL02436:P3h2	APN	16	25,815,950 (GRCm39)	missense	probably benign	0.01
PIT4445001:P3h2	UTSW	16	25,803,749 (GRCm39)	missense	probably benign	0.01
R0319:P3h2	UTSW	16	25,789,681 (GRCm39)	missense	possibly damaging	0.93
R0403:P3h2	UTSW	16	25,788,700 (GRCm39)	missense	possibly damaging	0.63
R0962:P3h2	UTSW	16	25,815,998 (GRCm39)	missense	probably benign
R1290:P3h2	UTSW	16	25,805,953 (GRCm39)	missense	probably damaging	0.99
R1300:P3h2	UTSW	16	25,815,986 (GRCm39)	nonsense	probably null
R1467:P3h2	UTSW	16	25,784,618 (GRCm39)	splice site	probably benign
R1643:P3h2	UTSW	16	25,791,041 (GRCm39)	missense	probably benign	0.00
R1645:P3h2	UTSW	16	25,815,982 (GRCm39)	missense	probably damaging	1.00
R1761:P3h2	UTSW	16	25,803,800 (GRCm39)	missense	probably damaging	0.96
R4227:P3h2	UTSW	16	25,924,203 (GRCm39)	missense	probably benign
R4273:P3h2	UTSW	16	25,923,971 (GRCm39)	missense	probably benign	0.00
R4409:P3h2	UTSW	16	25,924,040 (GRCm39)	missense	possibly damaging	0.88
R4410:P3h2	UTSW	16	25,924,040 (GRCm39)	missense	possibly damaging	0.88
R4653:P3h2	UTSW	16	25,924,027 (GRCm39)	missense	probably damaging	0.98
R4968:P3h2	UTSW	16	25,811,412 (GRCm39)	critical splice donor site	probably null
R5190:P3h2	UTSW	16	25,803,699 (GRCm39)	missense	possibly damaging	0.86
R6113:P3h2	UTSW	16	25,799,903 (GRCm39)	missense	probably benign	0.01
R6225:P3h2	UTSW	16	25,784,493 (GRCm39)	missense	probably damaging	0.97
R6838:P3h2	UTSW	16	25,924,034 (GRCm39)	missense	possibly damaging	0.73
R6881:P3h2	UTSW	16	25,811,495 (GRCm39)	missense	probably damaging	1.00
R7089:P3h2	UTSW	16	25,784,559 (GRCm39)	missense	probably damaging	1.00
R7445:P3h2	UTSW	16	25,803,815 (GRCm39)	missense	probably damaging	0.96
R7753:P3h2	UTSW	16	25,789,687 (GRCm39)	missense	probably damaging	1.00
R8166:P3h2	UTSW	16	25,811,572 (GRCm39)	missense	possibly damaging	0.89
R8363:P3h2	UTSW	16	25,811,468 (GRCm39)	missense	probably damaging	0.98
R8442:P3h2	UTSW	16	25,805,955 (GRCm39)	missense	probably benign	0.05
R8812:P3h2	UTSW	16	25,801,467 (GRCm39)	missense	possibly damaging	0.67
R8965:P3h2	UTSW	16	25,791,134 (GRCm39)	missense	probably benign	0.41
R9187:P3h2	UTSW	16	25,924,186 (GRCm39)	missense	probably benign	0.27
R9193:P3h2	UTSW	16	25,923,991 (GRCm39)	missense	probably benign	0.07
R9533:P3h2	UTSW	16	25,789,725 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28