Mutagenetix > Incidental Mutation

Incidental Mutation 'R1645:P3h2'

173838

Institutional Source

Beutler Lab

Gene Symbol

P3h2

Ensembl Gene

ENSMUSG00000038168

Gene Name

prolyl 3-hydroxylase 2

Synonyms

Leprel1

MMRRC Submission

039681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25778038-25924534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25815982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 177 (H177L)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

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

AlphaFold

Q8CG71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039990
AA Change: H177L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: H177L

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: ENSMUST00000159161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161878

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,948,926 (GRCm39)	M1732V	probably benign	Het
Acvr1	A	T	2: 58,352,911 (GRCm39)	C350S	probably damaging	Het
Adgrl2	A	T	3: 148,571,244 (GRCm39)	V130D	probably damaging	Het
Anapc1	A	G	2: 128,500,166 (GRCm39)		probably null	Het
Asap1	A	T	15: 63,961,324 (GRCm39)	V1116E	probably damaging	Het
Bcas1	T	A	2: 170,229,087 (GRCm39)	D308V	probably damaging	Het
Brca1	G	A	11: 101,400,879 (GRCm39)	H1468Y	probably benign	Het
C2cd5	A	G	6: 142,995,852 (GRCm39)	C421R	probably damaging	Het
C4b	A	G	17: 34,959,571 (GRCm39)	S363P	probably damaging	Het
Camk2b	A	T	11: 5,922,719 (GRCm39)	C484S	probably damaging	Het
Cby2	C	A	14: 75,821,089 (GRCm39)	R212L	probably benign	Het
Ccny	T	C	18: 9,345,199 (GRCm39)	T192A	probably damaging	Het
Chl1	G	T	6: 103,660,141 (GRCm39)	A356S	probably benign	Het
Dst	T	A	1: 34,264,803 (GRCm39)	Y4850N	probably damaging	Het
Dyrk4	C	A	6: 126,871,756 (GRCm39)	E171*	probably null	Het
Entrep3	C	A	3: 89,094,154 (GRCm39)	D322E	possibly damaging	Het
Ephb1	A	G	9: 101,804,758 (GRCm39)	Y928H	probably damaging	Het
Fam114a2	A	T	11: 57,390,621 (GRCm39)	N304K	probably benign	Het
Fras1	A	T	5: 96,848,445 (GRCm39)	D1820V	possibly damaging	Het
Gabbr2	A	T	4: 46,664,963 (GRCm39)		probably null	Het
Gm6358	T	C	16: 88,937,967 (GRCm39)	W69R	unknown	Het
Ikbkb	C	A	8: 23,181,082 (GRCm39)	S127I	probably damaging	Het
Impa1	A	T	3: 10,393,501 (GRCm39)	M48K	possibly damaging	Het
Klra2	A	T	6: 131,220,857 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,044,677 (GRCm39)	Y192F	probably benign	Het
Lama2	T	A	10: 27,244,981 (GRCm39)	T267S	probably damaging	Het
Mroh7	G	A	4: 106,577,865 (GRCm39)	T271I	probably benign	Het
Myo9b	A	G	8: 71,775,622 (GRCm39)	E348G	probably damaging	Het
Nrp2	C	T	1: 62,824,283 (GRCm39)	P796L	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or10al4	A	T	17: 38,037,229 (GRCm39)	T114S	probably benign	Het
Or51i1	A	G	7: 103,671,210 (GRCm39)	F105S	probably damaging	Het
Or9k7	T	A	10: 130,046,081 (GRCm39)	D306V	probably damaging	Het
Pcdhb16	T	C	18: 37,612,423 (GRCm39)	I461T	probably benign	Het
Pdlim3	A	G	8: 46,349,785 (GRCm39)	I32V	probably benign	Het
Pigu	A	C	2: 155,170,598 (GRCm39)	Y143*	probably null	Het
Prkd3	A	C	17: 79,263,949 (GRCm39)		probably null	Het
Psrc1	C	T	3: 108,292,554 (GRCm39)	R116W	probably damaging	Het
Rab5b	A	G	10: 128,522,695 (GRCm39)	S29P	possibly damaging	Het
Rbm26	A	G	14: 105,388,253 (GRCm39)	V403A	probably damaging	Het
Rbm47	G	T	5: 66,184,481 (GRCm39)	R41S	probably benign	Het
Rngtt	A	G	4: 33,362,939 (GRCm39)	I364M	probably damaging	Het
Ryr2	A	T	13: 11,733,368 (GRCm39)	C2271*	probably null	Het
Shcbp1	T	A	8: 4,799,645 (GRCm39)	Q277L	probably benign	Het
Sntg1	T	C	1: 8,874,155 (GRCm39)	T5A	probably benign	Het
Snx24	T	C	18: 53,522,634 (GRCm39)	F163S	probably benign	Het
Srp72	T	C	5: 77,146,125 (GRCm39)	V581A	probably benign	Het
Srrt	T	A	5: 137,300,401 (GRCm39)	K59*	probably null	Het
Tnrc6b	A	G	15: 80,767,159 (GRCm39)	T975A	probably damaging	Het
Vmn1r174	G	A	7: 23,453,777 (GRCm39)	V148I	possibly damaging	Het
Vmn2r115	T	A	17: 23,565,192 (GRCm39)	C360S	possibly damaging	Het
Vwa8	A	T	14: 79,420,427 (GRCm39)	Q1709H	probably damaging	Het
Wdr11	A	G	7: 129,215,613 (GRCm39)	T526A	probably benign	Het
Zfp532	C	A	18: 65,820,335 (GRCm39)	N973K	probably benign	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
IGL01012:P3h2	APN	16	25,805,998 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTTTGACCGTATGAACGTTAGTGC -3'
(R):5'- CTAGAGGGCAGAAATCTTACCAAGCTG -3'

Sequencing Primer
(F):5'- GAGTCCTAACTTGGTTTATCCACTG -3'
(R):5'- GTAAACTGGGAACAGTCTTGTC -3'

Posted On

2014-04-24