Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:P3h2'

597400

Institutional Source

Beutler Lab

Gene Symbol

P3h2

Ensembl Gene

ENSMUSG00000038168

Gene Name

prolyl 3-hydroxylase 2

Synonyms

Leprel1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25959288-26105784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25970937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 527 (Y527N)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

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

AlphaFold

Q8CG71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039990
AA Change: Y527N

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

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: Y527N

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

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.] 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,184,107	T1377A	probably damaging	Het
AI661453	G	T	17: 47,467,514	E722*	probably null	Het
Ap2b1	A	T	11: 83,367,907	K735*	probably null	Het
Aqp4	T	C	18: 15,399,976	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,752,458	V117L	probably benign	Het
C1rb	A	G	6: 124,580,431	N509S	probably benign	Het
Cep44	A	G	8: 56,532,807	V350A	probably benign	Het
Cmya5	T	C	13: 93,098,172	Q136R	probably benign	Het
Cntrl	T	C	2: 35,111,679	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,556,963	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,493,664	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,751,193	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,171,436	D294G	probably benign	Het
Ddx10	A	T	9: 53,225,604	L336Q	probably damaging	Het
Dopey1	A	G	9: 86,489,702	T149A	possibly damaging	Het
Epg5	A	G	18: 77,948,345	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,178,317	Q60L	probably damaging	Het
Farsb	T	A	1: 78,480,103	E41D	probably benign	Het
Frem1	T	C	4: 82,913,980	D1956G	probably benign	Het
Fzd4	T	A	7: 89,407,784	Y346*	probably null	Het
Fzd7	A	T	1: 59,483,482	S175C	probably benign	Het
Gdi2	A	G	13: 3,548,956	T47A	probably benign	Het
Gm8765	A	T	13: 50,701,781	D485V	probably damaging	Het
Gpr155	A	T	2: 73,382,206	H24Q	probably benign	Het
Hdac7	A	T	15: 97,800,761	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,806,488	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,824,972	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,451,260	R223*	probably null	Het
Igkv4-91	T	G	6: 68,768,777	S46R	probably benign	Het
Itk	T	A	11: 46,331,895	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,396,761	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 142,175,399		probably benign	Het
Lce1m	C	A	3: 93,018,508	G41W	unknown	Het
Mapk10	T	A	5: 103,038,553	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,461,653	E812G	probably damaging	Het
Mlh1	C	A	9: 111,252,863		probably null	Het
Mroh1	A	G	15: 76,433,275	D784G	possibly damaging	Het
Neo1	A	T	9: 58,956,005	D426E	probably benign	Het
Nol4	T	A	18: 23,038,602	M1L	probably benign	Het
Nr1h3	A	G	2: 91,185,025	F338S	probably damaging	Het
Oasl2	A	G	5: 114,905,057	K297E	probably benign	Het
Olfr1030	A	G	2: 85,984,716	N292S	possibly damaging	Het
Olfr1129	A	G	2: 87,575,797	T238A	probably benign	Het
Olfr1306	A	G	2: 111,912,582	I116T	probably benign	Het
Olfr419	C	T	1: 174,250,670	V86I	probably benign	Het
Olfr683	T	C	7: 105,143,800	I164M	probably benign	Het
Osbpl9	T	C	4: 109,133,773	T97A	possibly damaging	Het
Papss2	A	T	19: 32,620,179	H9L	probably benign	Het
Pcdha4	C	A	18: 36,953,301	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,836,338	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,272,968	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,827,253	L1633I	probably damaging	Het
Prss51	T	A	14: 64,095,927	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,457,042		probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Slc2a7	T	C	4: 150,154,684	I122T	possibly damaging	Het
Sprr3	G	A	3: 92,457,108	P143L	probably benign	Het
Sugct	A	T	13: 17,577,519	S181T	possibly damaging	Het
Syne2	G	A	12: 76,038,923	R141Q	probably benign	Het
Taok1	T	C	11: 77,537,899	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,362,023		probably null	Het
Thada	T	C	17: 84,252,390	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,902,156	L104S	probably damaging	Het
Tln2	T	G	9: 67,395,473	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,814,311	E75G	probably damaging	Het
Tox3	A	G	8: 90,248,932	L357P	probably damaging	Het
Ubr4	T	C	4: 139,470,292	V4492A	unknown	Het
Ulk4	A	G	9: 121,266,512		probably null	Het
Ush2a	A	G	1: 188,443,406	T1234A	probably benign	Het
Usp53	G	A	3: 122,949,238	T683I	probably damaging	Het
Vcan	T	A	13: 89,689,323	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,750,626	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,586,401	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,263,040	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,447,157	D785G	probably benign	Het
Zfp397	A	T	18: 23,957,072	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,915,805	T1393S	possibly damaging	Het

Other mutations in P3h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:P3h2	APN	16	25992798	missense	probably damaging	1.00
IGL01012:P3h2	APN	16	25987248	missense	probably damaging	0.98
IGL02393:P3h2	APN	16	25992825	missense	probably damaging	1.00
IGL02436:P3h2	APN	16	25997200	missense	probably benign	0.01
PIT4445001:P3h2	UTSW	16	25984999	missense	probably benign	0.01
R0319:P3h2	UTSW	16	25970931	missense	possibly damaging	0.93
R0403:P3h2	UTSW	16	25969950	missense	possibly damaging	0.63
R0962:P3h2	UTSW	16	25997248	missense	probably benign
R1290:P3h2	UTSW	16	25987203	missense	probably damaging	0.99
R1300:P3h2	UTSW	16	25997236	nonsense	probably null
R1467:P3h2	UTSW	16	25965868	splice site	probably benign
R1643:P3h2	UTSW	16	25972291	missense	probably benign	0.00
R1645:P3h2	UTSW	16	25997232	missense	probably damaging	1.00
R1761:P3h2	UTSW	16	25985050	missense	probably damaging	0.96
R4227:P3h2	UTSW	16	26105453	missense	probably benign
R4273:P3h2	UTSW	16	26105221	missense	probably benign	0.00
R4409:P3h2	UTSW	16	26105290	missense	possibly damaging	0.88
R4410:P3h2	UTSW	16	26105290	missense	possibly damaging	0.88
R4653:P3h2	UTSW	16	26105277	missense	probably damaging	0.98
R4968:P3h2	UTSW	16	25992662	critical splice donor site	probably null
R5190:P3h2	UTSW	16	25984949	missense	possibly damaging	0.86
R6113:P3h2	UTSW	16	25981153	missense	probably benign	0.01
R6225:P3h2	UTSW	16	25965743	missense	probably damaging	0.97
R6838:P3h2	UTSW	16	26105284	missense	possibly damaging	0.73
R6881:P3h2	UTSW	16	25992745	missense	probably damaging	1.00
R7089:P3h2	UTSW	16	25965809	missense	probably damaging	1.00
R7445:P3h2	UTSW	16	25985065	missense	probably damaging	0.96
R8166:P3h2	UTSW	16	25992822	missense	possibly damaging	0.89
R8363:P3h2	UTSW	16	25992718	missense	probably damaging	0.98
R8442:P3h2	UTSW	16	25987205	missense	probably benign	0.05
R8812:P3h2	UTSW	16	25982717	missense	possibly damaging	0.67
R8965:P3h2	UTSW	16	25972384	missense	probably benign	0.41
R9187:P3h2	UTSW	16	26105436	missense	probably benign	0.27
R9193:P3h2	UTSW	16	26105241	missense	probably benign	0.07
R9533:P3h2	UTSW	16	25970975	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCTTTCAGAATTTTAGGAGAC -3'
(R):5'- CTGATCCCACAAGCGTGTAG -3'

Sequencing Primer
(F):5'- CTTTCAGAATTTTAGGAGACAAAGGG -3'
(R):5'- CCCACAAGCGTGTAGAAGTTATTC -3'

Posted On

2019-11-26