Mutagenetix > Incidental Mutation

Incidental Mutation 'R9187:P3h2'

697477

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 #

R9187 (G1)

Quality Score

138.008

Status

Not validated

Chromosome

Chromosomal Location

25959288-26105784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26105436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 83 (A83V)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

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

AlphaFold

Q8CG71

Predicted Effect

probably benign
Transcript: ENSMUST00000039990
AA Change: A83V

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: A83V

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: 99.5%

Validation Efficiency

97% (70/72)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,310,135		probably null	Het
Abcb1a	T	A	5: 8,715,016	C669S	probably benign	Het
Abcc3	A	G	11: 94,365,087	L524P	probably damaging	Het
Akap5	A	T	12: 76,329,971	K726*	probably null	Het
Aldh16a1	T	C	7: 45,142,017	E778G	probably damaging	Het
Ankle2	G	A	5: 110,252,744	V649M	possibly damaging	Het
Apon	A	G	10: 128,254,963	N170S	probably benign	Het
Baiap2l1	T	C	5: 144,280,954	Y274C	probably benign	Het
Bub1	A	T	2: 127,814,936	N425K	possibly damaging	Het
Camsap1	A	G	2: 25,930,016	C1487R	probably damaging	Het
Cd4	A	C	6: 124,867,688	V378G	probably damaging	Het
Cenpa	C	A	5: 30,667,036	P3Q	unknown	Het
Cfap44	T	C	16: 44,404,781		probably benign	Het
Cfap65	T	A	1: 74,917,358	M1021L	probably benign	Het
Ddx39	G	T	8: 83,722,484	M300I	probably benign	Het
Dgkh	T	C	14: 78,595,161	R819G	probably damaging	Het
Dlc1	A	T	8: 36,938,632	M1K	probably null	Het
Dnah9	A	G	11: 66,005,146	W2468R	probably benign	Het
Ebag9	A	T	15: 44,640,310	K177I	probably damaging	Het
Ehbp1	T	C	11: 22,151,184	I249V	probably damaging	Het
Fam171b	T	C	2: 83,880,021	V679A	probably damaging	Het
Gabbr2	G	A	4: 46,674,533	T818I	probably damaging	Het
Gcn1l1	T	C	5: 115,614,118	S2098P	probably damaging	Het
Glb1	T	C	9: 114,473,923	I609T	probably damaging	Het
Gm12355	A	G	11: 98,625,361	V62A	possibly damaging	Het
Gm5916	T	G	9: 36,120,724	H88P	probably benign	Het
Gm6205	T	C	5: 94,683,896	V254A	probably benign	Het
Gon4l	T	C	3: 88,879,311	S586P	probably benign	Het
Gzmg	T	A	14: 56,157,257	T185S	probably benign	Het
Hipk3	T	A	2: 104,446,591	D381V	probably damaging	Het
Hnrnpul2	C	A	19: 8,830,955	N681K	probably benign	Het
Hpdl	C	A	4: 116,821,175	G30C	probably damaging	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Krt82	C	A	15: 101,541,825	V479L	probably benign	Het
Lama4	G	A	10: 39,048,128		probably null	Het
Lamc1	C	A	1: 153,221,688	E1537*	probably null	Het
Mab21l3	G	A	3: 101,823,278	T215M	probably benign	Het
Magi3	C	A	3: 104,015,757	V1215F	possibly damaging	Het
Mical2	T	A	7: 112,303,590	C89*	probably null	Het
Mitf	T	A	6: 98,017,874	V427D	probably benign	Het
Muc4	T	C	16: 32,768,728	V753A		Het
Myo16	G	A	8: 10,442,233	R725H	unknown	Het
Ncapg2	T	A	12: 116,438,667	D706E	probably damaging	Het
Ndst1	T	C	18: 60,691,196	D803G	probably benign	Het
Neb	A	T	2: 52,206,103	V5065D	probably damaging	Het
Npm3	G	A	19: 45,749,502	R19*	probably null	Het
Ntrk3	A	C	7: 78,247,218	N690K	possibly damaging	Het
Olfr850	T	C	9: 19,477,870	I127V	probably benign	Het
Olfr855	T	C	9: 19,584,654	I39T	probably benign	Het
Olfr985	C	A	9: 40,127,590	V124L	possibly damaging	Het
Pdia2	A	G	17: 26,196,936	S362P	probably damaging	Het
Pmp22	C	T	11: 63,134,442	H34Y	probably benign	Het
Pmp22	T	C	11: 63,134,491	V50A	probably benign	Het
Ppfia4	T	C	1: 134,327,268	D283G	probably damaging	Het
Prss55	T	A	14: 64,077,082	Q213L	probably null	Het
Rgsl1	C	T	1: 153,793,867	E258K	possibly damaging	Het
Ripor2	T	C	13: 24,713,649	F777L	probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,579,933		probably benign	Het
Sgce	G	A	6: 4,711,362	R173C	probably benign	Het
Sncaip	T	G	18: 52,906,939	M735R	probably benign	Het
Snrpd2	T	A	7: 19,152,580	I96N	probably damaging	Het
Spryd3	T	G	15: 102,130,675	D121A	probably damaging	Het
Sspo	T	C	6: 48,495,289	C149R	probably damaging	Het
Tbc1d10b	A	T	7: 127,207,933	M144K	probably benign	Het
Tbc1d31	T	A	15: 57,916,089	I66N	probably damaging	Het
Tssk1	A	G	16: 17,894,593	T81A	possibly damaging	Het
Ttc28	A	G	5: 111,102,036	Y284C	probably damaging	Het
Ttn	T	C	2: 76,743,411	T25713A	probably benign	Het
Vmn2r125	T	C	4: 156,351,259	W311R	probably damaging	Het
Vmn2r80	A	T	10: 79,194,604	T755S	probably benign	Het
Vmn2r98	T	C	17: 19,081,219	C828R	probably damaging	Het
Wwox	T	C	8: 114,712,238	F348S	probably damaging	Het
Zeb2	T	A	2: 45,110,028	R65W	possibly damaging	Het
Zfp712	T	A	13: 67,040,573	H630L	probably damaging	Het
Zfp764	G	T	7: 127,405,436	H174Q	probably 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
R7753:P3h2	UTSW	16	25970937	missense	probably damaging	1.00
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
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'- TAGGGAACTCTGCGTTGGAAG -3'
(R):5'- TGGAGGCGTCCCTTTAAGAG -3'

Sequencing Primer
(F):5'- TTGGAAGTCGCTGCGCAC -3'
(R):5'- TCCCTTTAAGAGCGGCCAG -3'

Posted On

2022-02-07