Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:P3h2'

555431

Institutional Source

Beutler Lab

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 #

PIT4445001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25778038-25924534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25803749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 339 (D339V)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

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

AlphaFold

Q8CG71

Predicted Effect

probably benign
Transcript: ENSMUST00000039990
AA Change: D339V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: D339V

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: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,966,377 (GRCm39)	K419E	probably damaging	Het
Adam7	T	A	14: 68,747,197 (GRCm39)	K587N	possibly damaging	Het
Agl	T	C	3: 116,565,109 (GRCm39)	M382V		Het
Agpat3	A	T	10: 78,109,927 (GRCm39)	F341I	possibly damaging	Het
Ampd2	A	T	3: 107,982,328 (GRCm39)	L767Q	probably damaging	Het
Arhgap28	A	T	17: 68,203,230 (GRCm39)	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,172,152 (GRCm39)	L1644P	probably damaging	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Asns	T	A	6: 7,689,277 (GRCm39)	N75I	probably damaging	Het
Atp10a	A	G	7: 58,453,215 (GRCm39)	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,780,003 (GRCm39)	V1145A		Het
Ccdc171	A	G	4: 83,579,984 (GRCm39)	Q577R	probably damaging	Het
Cd247	T	A	1: 165,688,605 (GRCm39)	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,175,881 (GRCm39)	N104K	probably damaging	Het
Chfr	A	G	5: 110,299,543 (GRCm39)	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,603,334 (GRCm39)	L881I	probably damaging	Het
Dgkh	A	T	14: 78,813,382 (GRCm39)	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,788,468 (GRCm39)	V942D	probably benign	Het
Fmo5	A	G	3: 97,558,844 (GRCm39)	T435A	probably benign	Het
Fpr1	T	C	17: 18,097,155 (GRCm39)	Q278R	probably benign	Het
Fzr1	C	T	10: 81,205,228 (GRCm39)	W256*	probably null	Het
Gabrb1	T	C	5: 72,266,125 (GRCm39)	S261P	probably damaging	Het
Galr2	G	T	11: 116,172,474 (GRCm39)	A55S	probably benign	Het
Gbp2	A	T	3: 142,343,227 (GRCm39)	K581N	probably benign	Het
Gria1	A	T	11: 57,076,664 (GRCm39)	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,450,170 (GRCm39)	I26N	possibly damaging	Het
Igf1r	T	C	7: 67,857,211 (GRCm39)	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,629,680 (GRCm39)	C36G	probably benign	Het
Igll1	T	C	16: 16,678,783 (GRCm39)	T176A	probably benign	Het
Ilkap	T	C	1: 91,313,067 (GRCm39)	T143A	probably benign	Het
Kdm3b	A	T	18: 34,926,168 (GRCm39)	K103*	probably null	Het
Mphosph9	A	G	5: 124,436,853 (GRCm39)	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,239,908 (GRCm39)	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,023,384 (GRCm39)		probably null	Het
Myo3a	A	T	2: 22,434,457 (GRCm39)	E813V	possibly damaging	Het
Myo7b	T	C	18: 32,095,405 (GRCm39)	K1851R	probably damaging	Het
Myo7b	G	T	18: 32,092,519 (GRCm39)	Q2093K	possibly damaging	Het
Pcdhb6	C	A	18: 37,468,300 (GRCm39)	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,093,483 (GRCm39)	R153L	probably damaging	Het
Plppr4	G	A	3: 117,153,957 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,717,776 (GRCm39)	F1046S	probably damaging	Het
Pramel41	T	G	5: 94,596,366 (GRCm39)	W468G	probably benign	Het
Prkacb	A	T	3: 146,461,446 (GRCm39)	L107M	probably benign	Het
Ranbp17	A	G	11: 33,431,020 (GRCm39)		probably null	Het
Rasl11b	C	A	5: 74,357,994 (GRCm39)	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,448,460 (GRCm39)	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,071,758 (GRCm39)	K407N	probably damaging	Het
Rusf1	A	G	7: 127,875,706 (GRCm39)	V243A	probably benign	Het
Scrn3	G	A	2: 73,148,673 (GRCm39)	M81I	possibly damaging	Het
Scube2	T	C	7: 109,408,387 (GRCm39)	T687A	probably benign	Het
Serpinb10	T	A	1: 107,463,728 (GRCm39)	F3L	probably benign	Het
Sgcb	C	T	5: 73,797,155 (GRCm39)	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654 (GRCm39)	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,286,229 (GRCm39)	V574A	probably benign	Het
Sncaip	T	C	18: 53,002,016 (GRCm39)	L179S	probably damaging	Het
Sntg2	A	T	12: 30,362,571 (GRCm39)	D58E	probably damaging	Het
Taar3	T	C	10: 23,825,586 (GRCm39)	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,673,391 (GRCm39)	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,412,517 (GRCm39)	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,654,215 (GRCm39)	H391R	probably benign	Het
Traf5	A	G	1: 191,729,768 (GRCm39)	Y125H		Het
Ttc23	T	G	7: 67,316,961 (GRCm39)	I77M	probably damaging	Het
Ube2l3	T	C	16: 16,978,036 (GRCm39)	N43S	probably benign	Het
Vars2	A	T	17: 35,977,103 (GRCm39)	C142*	probably null	Het
Vmn2r15	A	C	5: 109,435,008 (GRCm39)	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,449,153 (GRCm39)		probably null	Het
Vmn2r79	A	T	7: 86,651,408 (GRCm39)	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,261,572 (GRCm39)	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,421,746 (GRCm39)	*137C	probably null	Het
Wipi2	T	C	5: 142,652,639 (GRCm39)	V417A	probably benign	Het
Xirp2	G	T	2: 67,340,116 (GRCm39)	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,445,697 (GRCm39)	G26S	probably benign	Het
Zscan25	T	A	5: 145,227,422 (GRCm39)	V362D	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTAGGCAACAGGTTTGTC -3'
(R):5'- TCATCAATGCTGACATCAAGAGAC -3'

Sequencing Primer
(F):5'- CCTAGGCAACAGGTTTGTCACAAG -3'
(R):5'- GAGACACATTGAAGTTTCCCTCTG -3'

Posted On

2019-06-07