Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:P3h2'

158332

Institutional Source

Beutler Lab

Gene Symbol

P3h2

Ensembl Gene

ENSMUSG00000038168

Gene Name

prolyl 3-hydroxylase 2

Synonyms

Leprel1

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25778038-25924534 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 25815986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 176 (E176*)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

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

AlphaFold

Q8CG71

Predicted Effect

probably null
Transcript: ENSMUST00000039990
AA Change: E176*

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: E176*

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,967 (GRCm39)	I2535T	probably damaging	Het
Adam34l	A	T	8: 44,079,881 (GRCm39)	Y114*	probably null	Het
Ank3	A	G	10: 69,840,495 (GRCm39)	I952V	probably benign	Het
Ankar	A	C	1: 72,682,323 (GRCm39)	V1414G	probably benign	Het
Arl2	A	G	19: 6,191,103 (GRCm39)	M10T	probably benign	Het
Arpp21	A	G	9: 111,972,442 (GRCm39)	I352T	probably damaging	Het
Cacna1e	T	A	1: 154,274,419 (GRCm39)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,703,691 (GRCm39)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,552 (GRCm39)	V337A	probably benign	Het
Cpn2	T	A	16: 30,078,481 (GRCm39)	T407S	probably benign	Het
Cpne4	T	C	9: 104,870,333 (GRCm39)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,840,189 (GRCm39)		probably null	Het
Cspg4b	T	C	13: 113,502,694 (GRCm39)	F133S	probably damaging	Het
Dennd5a	A	T	7: 109,518,614 (GRCm39)	I485N	probably benign	Het
Dnah6	T	C	6: 73,101,692 (GRCm39)	Q1892R	probably benign	Het
Dse	G	A	10: 34,028,411 (GRCm39)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,465,206 (GRCm39)	S466A	probably benign	Het
Dstyk	T	C	1: 132,377,651 (GRCm39)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,294,464 (GRCm39)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,821,426 (GRCm39)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 73,145,746 (GRCm39)	D162E	probably damaging	Het
Fstl4	C	A	11: 52,959,454 (GRCm39)	T165N	probably benign	Het
Gm8674	T	C	13: 50,055,758 (GRCm39)		noncoding transcript	Het
Gtsf2	T	A	15: 103,352,780 (GRCm39)	L39F	possibly damaging	Het
Hck	A	C	2: 152,976,067 (GRCm39)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,298,903 (GRCm39)		probably null	Het
Irf4	T	C	13: 30,941,568 (GRCm39)	L307P	probably damaging	Het
Keg1	G	A	19: 12,696,368 (GRCm39)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,610,452 (GRCm39)	D218G	probably damaging	Het
Map1b	T	C	13: 99,569,029 (GRCm39)	K1231E	unknown	Het
Mapkbp1	T	C	2: 119,844,136 (GRCm39)	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,778,333 (GRCm39)	D310E	probably benign	Het
Mmp9	A	T	2: 164,790,876 (GRCm39)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,370,666 (GRCm39)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,209,065 (GRCm39)	I110F	probably damaging	Het
Neu1	A	T	17: 35,153,314 (GRCm39)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,284,209 (GRCm39)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,446,594 (GRCm39)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,177,859 (GRCm39)	D517A	probably damaging	Het
Or14c43	T	C	7: 86,114,951 (GRCm39)	F111L	probably benign	Het
Or1e32	T	C	11: 73,705,072 (GRCm39)	T279A	probably benign	Het
Or2z2	T	C	11: 58,346,667 (GRCm39)	Y36C	probably damaging	Het
Or52e3	G	A	7: 102,869,324 (GRCm39)	R133Q	probably benign	Het
Parp10	C	A	15: 76,126,190 (GRCm39)	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,450 (GRCm39)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,159,611 (GRCm39)	T818S	possibly damaging	Het
Phf11	A	T	14: 59,488,563 (GRCm39)	V78D	probably damaging	Het
Phip	A	T	9: 82,758,800 (GRCm39)	L1450Q	probably benign	Het
Pinx1	A	G	14: 64,156,859 (GRCm39)	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,706,014 (GRCm39)	E19G	probably damaging	Het
Pum1	T	C	4: 130,493,272 (GRCm39)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,908 (GRCm39)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,754,550 (GRCm39)	D327G	probably benign	Het
Syt1	A	T	10: 108,467,682 (GRCm39)	V205D	possibly damaging	Het
Tep1	C	T	14: 51,064,512 (GRCm39)		probably null	Het
Thnsl2	T	A	6: 71,111,175 (GRCm39)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,524,763 (GRCm39)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,534,304 (GRCm39)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,002,704 (GRCm39)	E506G	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
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

Predicted Primers

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

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

Posted On

2014-02-18