Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:P3h2'

697836

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 #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25959288-26105784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26105241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 148 (N148S)

Ref Sequence

ENSEMBL: ENSMUSP00000038056 (fasta)

Gene Model

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

AlphaFold

Q8CG71

Predicted Effect

probably benign
Transcript: ENSMUST00000039990
AA Change: N148S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: N148S

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: 99.3%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,519	D284G	probably benign	Het
Ak1	A	T	2: 32,630,379	K79M	probably benign	Het
Amy1	T	C	3: 113,562,629	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,348,051	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,984,820	G35D	probably benign	Het
Cachd1	C	A	4: 100,777,142	P5Q	unknown	Het
Capn13	A	T	17: 73,345,196	I266N	probably damaging	Het
Ccdc144b	G	T	3: 36,035,279	N165K	probably benign	Het
Chil3	A	G	3: 106,155,765	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,527,486	I571T	probably damaging	Het
Col14a1	A	G	15: 55,379,568	M371V	unknown	Het
Dag1	A	G	9: 108,208,268	L558P	possibly damaging	Het
Edem3	G	A	1: 151,818,519	E868K	probably benign	Het
Eif3k	T	C	7: 28,974,199	Y150C	probably damaging	Het
Farp1	T	C	14: 121,280,869	I988T	probably benign	Het
Fat3	A	G	9: 15,998,952	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112	I79T	probably benign	Het
Gbp8	T	C	5: 105,031,303	D110G	probably damaging	Het
H2-Bl	A	G	17: 36,081,064	V39A	possibly damaging	Het
H2-M2	T	A	17: 37,482,537	M193L	probably benign	Het
Ighv7-1	T	A	12: 113,896,490	D94V	probably damaging	Het
Il2ra	T	C	2: 11,684,391	F244L	possibly damaging	Het
Jag1	A	T	2: 137,089,844	H602Q	probably null	Het
Kidins220	A	T	12: 24,986,967	I16F	possibly damaging	Het
Klb	A	G	5: 65,372,025	T299A	possibly damaging	Het
Lama4	A	G	10: 39,075,448	K1063R	probably benign	Het
Lrit2	A	G	14: 37,072,593	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,353,374	L32*	probably null	Het
Lrrtm3	A	T	10: 63,930,104	I568N	probably damaging	Het
Myom1	A	G	17: 71,036,300	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,846,578	D696G	probably damaging	Het
Nalcn	A	T	14: 123,308,380	L1073*	probably null	Het
Nid2	T	C	14: 19,803,210	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,092,622	V833A	probably benign	Het
Nyap2	T	C	1: 81,297,997	S619P	probably damaging	Het
Olfr1008	C	A	2: 85,690,300	Y290*	probably null	Het
Olfr1243	A	G	2: 89,527,643	Y256H	probably damaging	Het
Olfr434	A	T	6: 43,217,152	T80S	probably benign	Het
Olfr976	T	C	9: 39,956,582	M118V	probably damaging	Het
P4htm	A	G	9: 108,582,882	M231T	probably damaging	Het
Pank1	T	A	19: 34,827,234	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,265,600	Y210H	probably benign	Het
Prl2a1	T	A	13: 27,808,552	C220S	probably damaging	Het
Prpmp5	T	C	6: 132,312,033	H276R	unknown	Het
Psca	C	T	15: 74,716,083	Q39*	probably null	Het
Rgs20	A	T	1: 5,020,844	M121K	possibly damaging	Het
S100z	C	T	13: 95,477,375	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,462,837	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,088,744	Y214C	probably damaging	Het
Sox5	C	T	6: 143,844,844	E497K	probably benign	Het
Sptbn1	C	T	11: 30,137,551	E963K	possibly damaging	Het
Srl	T	C	16: 4,493,859	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,626,574	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,786	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,634,222	V191A	probably damaging	Het
Thap7	A	T	16: 17,529,037	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,317,258	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,531,158	A61G	probably benign	Het
Trim30c	C	T	7: 104,382,346	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,423,870	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,893,583	C104S	probably damaging	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp735	A	T	11: 73,689,774	Y33F	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
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
R9187:P3h2	UTSW	16	26105436	missense	probably benign	0.27
R9533:P3h2	UTSW	16	25970975	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTAGTCTCTGGGCTTCTACTTG -3'
(R):5'- TACTACAGCGGCGACTATGAG -3'

Sequencing Primer
(F):5'- GGCTTCTACTTGCACGCAAAG -3'
(R):5'- ACTATGAGCGAGCGGTGC -3'

Posted On

2022-02-07