Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:P3h3'

55643

Institutional Source

Beutler Lab

Gene Symbol

P3h3

Ensembl Gene

ENSMUSG00000023191

Gene Name

prolyl 3-hydroxylase 3

Synonyms

Grcb, Leprel2

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0605 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

124841089-124857752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124856035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 185 (H185L)

Ref Sequence

ENSEMBL: ENSMUSP00000116338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000046893] [ENSMUST00000135127] [ENSMUST00000204667]

AlphaFold

Q8CG70

Predicted Effect

probably damaging
Transcript: ENSMUST00000023958
AA Change: H185L

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

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: H185L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	58	76	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC
P4Hc	460	670	8.51e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046893

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129225

Predicted Effect

probably damaging
Transcript: ENSMUST00000135127
AA Change: H185L

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

SMART Domains

Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191
AA Change: H185L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	58	76	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204161

Predicted Effect

probably benign
Transcript: ENSMUST00000204667

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Meta Mutation Damage Score

0.6580

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit collagen fiber fragility in the skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	Het

Other mutations in P3h3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:P3h3	APN	6	124845589	missense	probably benign	0.26
IGL02158:P3h3	APN	6	124853092	missense	probably damaging	1.00
IGL02654:P3h3	APN	6	124845265	missense	possibly damaging	0.95
P0040:P3h3	UTSW	6	124853136	missense	probably damaging	0.99
R0024:P3h3	UTSW	6	124857458	missense	probably benign
R0196:P3h3	UTSW	6	124845272	missense	probably damaging	1.00
R0328:P3h3	UTSW	6	124854306	unclassified	probably benign
R0589:P3h3	UTSW	6	124841681	missense	probably damaging	1.00
R0793:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0794:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0795:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0796:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0853:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0854:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0856:P3h3	UTSW	6	124854933	missense	probably benign	0.00
R0893:P3h3	UTSW	6	124845513	missense	probably damaging	1.00
R1819:P3h3	UTSW	6	124854932	missense	probably benign	0.05
R2100:P3h3	UTSW	6	124845042	missense	probably damaging	1.00
R4332:P3h3	UTSW	6	124842136	missense	probably damaging	1.00
R4461:P3h3	UTSW	6	124845568	missense	probably benign	0.08
R4533:P3h3	UTSW	6	124854408	missense	possibly damaging	0.62
R4829:P3h3	UTSW	6	124841638	utr 3 prime	probably benign
R4840:P3h3	UTSW	6	124850637	missense	possibly damaging	0.82
R4962:P3h3	UTSW	6	124841773	missense	probably benign	0.09
R5014:P3h3	UTSW	6	124855236	missense	probably damaging	1.00
R5591:P3h3	UTSW	6	124854695	unclassified	probably benign
R5691:P3h3	UTSW	6	124855153	missense	probably damaging	1.00
R5777:P3h3	UTSW	6	124855958	missense	probably benign	0.24
R5846:P3h3	UTSW	6	124857194	critical splice donor site	probably null
R6212:P3h3	UTSW	6	124845643	missense	probably benign	0.19
R6254:P3h3	UTSW	6	124845601	missense	probably damaging	1.00
R6320:P3h3	UTSW	6	124854872	missense	probably benign	0.02
R6860:P3h3	UTSW	6	124857368	missense	probably benign	0.01
R7385:P3h3	UTSW	6	124855270	missense	probably damaging	1.00
R7472:P3h3	UTSW	6	124850631	missense	possibly damaging	0.92
R7617:P3h3	UTSW	6	124856006	missense	probably damaging	1.00
R7763:P3h3	UTSW	6	124854432	missense	probably benign	0.00
R7831:P3h3	UTSW	6	124855155	missense	possibly damaging	0.86
R8317:P3h3	UTSW	6	124855153	missense	probably damaging	1.00
R8436:P3h3	UTSW	6	124851078	critical splice donor site	probably null
R8749:P3h3	UTSW	6	124845977	missense	probably damaging	0.99
R8944:P3h3	UTSW	6	124855233	missense	possibly damaging	0.86
R8988:P3h3	UTSW	6	124857601	missense	possibly damaging	0.74
R9508:P3h3	UTSW	6	124853049	critical splice donor site	probably null
X0021:P3h3	UTSW	6	124856029	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTCAGAATCAGAACGCTAGAAC -3'
(R):5'- ATTGGCTAGGCTGCCATAAGGCTC -3'

Sequencing Primer
(F):5'- GTGCTAGGGAAAGACTCCTCAC -3'
(R):5'- CAAAATCCcacccccaccc -3'

Posted On

2013-07-11