Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:P3h3'

372658

Institutional Source

Beutler Lab

Gene Symbol

P3h3

Ensembl Gene

ENSMUSG00000023191

Gene Name

prolyl 3-hydroxylase 3

Synonyms

Leprel2, Grcb

MMRRC Submission

042445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124818052-124834680 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 124818601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024206] [ENSMUST00000135127]

AlphaFold

Q8CG70

Predicted Effect

probably benign
Transcript: ENSMUST00000023958

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191

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: ENSMUST00000024206

SMART Domains

Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439

Domain	Start	End	E-Value	Type
WD40	44	83	4.91e-8	SMART
WD40	86	125	1.61e-3	SMART
WD40	132	170	5.1e-6	SMART
WD40	173	212	3.99e-8	SMART
WD40	215	254	2.67e-9	SMART
WD40	263	298	2e-1	SMART
WD40	301	340	3.87e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129251

Predicted Effect

probably benign
Transcript: ENSMUST00000135127

SMART Domains

Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191

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: ENSMUST00000135996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149870

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,780 (GRCm39)	V1323A	probably damaging	Het
Abcb1a	T	C	5: 8,773,214 (GRCm39)	L814P	probably damaging	Het
Acat1	C	A	9: 53,502,756 (GRCm39)	G191V	probably damaging	Het
Acsbg3	A	G	17: 57,190,500 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,224,277 (GRCm39)	D1184E	probably benign	Het
Adss1	T	C	12: 112,601,147 (GRCm39)	L283P	probably damaging	Het
Arid4a	A	G	12: 71,070,272 (GRCm39)		probably null	Het
Arid4b	T	A	13: 14,359,023 (GRCm39)	D599E	probably benign	Het
AW146154	T	C	7: 41,130,057 (GRCm39)	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,204,216 (GRCm39)	R547S	possibly damaging	Het
Bcat1	A	T	6: 144,961,201 (GRCm39)	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,573,646 (GRCm39)		probably benign	Het
Catsperg2	T	G	7: 29,400,550 (GRCm39)	K268T	probably damaging	Het
Ccar1	A	C	10: 62,581,114 (GRCm39)	F1103L	unknown	Het
Ccdc141	T	A	2: 76,905,260 (GRCm39)	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,967,983 (GRCm39)	T16A	probably benign	Het
Cdca2	T	A	14: 67,931,202 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,420,952 (GRCm39)	I159V	probably damaging	Het
Cntn5	T	G	9: 9,976,288 (GRCm39)	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,448,413 (GRCm39)	A202E	unknown	Het
Csmd1	G	A	8: 16,177,310 (GRCm39)	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 54,028,895 (GRCm39)	A16V	possibly damaging	Het
Cspg4b	A	G	13: 113,504,696 (GRCm39)	I1942V	probably benign	Het
Dab2	A	G	15: 6,454,162 (GRCm39)	D224G	probably damaging	Het
Ddr1	A	T	17: 35,996,005 (GRCm39)	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,796,338 (GRCm39)	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,660,617 (GRCm39)	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,391,654 (GRCm39)	I81S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fat1	C	T	8: 45,489,199 (GRCm39)	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,312,020 (GRCm39)	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,651,662 (GRCm39)	M548L	probably benign	Het
Fstl5	T	C	3: 76,229,489 (GRCm39)	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,176,994 (GRCm39)	S481T	probably damaging	Het
Gp2	A	T	7: 119,056,407 (GRCm39)	V22E	possibly damaging	Het
Grin1	A	G	2: 25,208,736 (GRCm39)	S55P	possibly damaging	Het
Herc2	A	G	7: 55,756,240 (GRCm39)	D760G	probably benign	Het
Hpn	A	G	7: 30,798,300 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,372,266 (GRCm39)	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,900,788 (GRCm39)	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,471,346 (GRCm39)	K57R	probably benign	Het
Klc1	T	C	12: 111,762,037 (GRCm39)	I569T	probably damaging	Het
Klra3	T	G	6: 130,300,579 (GRCm39)	K263N	probably benign	Het
Lrcol1	C	A	5: 110,502,393 (GRCm39)	H90N	probably benign	Het
Mamdc4	T	C	2: 25,455,368 (GRCm39)	E921G	possibly damaging	Het
Mark1	G	A	1: 184,637,724 (GRCm39)	R622W	possibly damaging	Het
Mdga1	A	G	17: 30,065,343 (GRCm39)	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtnr1a	T	C	8: 45,538,652 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,043,689 (GRCm39)	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,257,147 (GRCm39)	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,164,010 (GRCm39)		probably null	Het
Nxph3	T	C	11: 95,402,321 (GRCm39)	E31G	probably benign	Het
Obscn	T	C	11: 58,945,072 (GRCm39)	I4649V	probably null	Het
Or10d4b	A	T	9: 39,534,734 (GRCm39)	H103L	probably damaging	Het
Or8b12b	G	T	9: 37,684,243 (GRCm39)	C96F	probably damaging	Het
Or8g35	A	T	9: 39,381,663 (GRCm39)	Y120N	probably damaging	Het
Or8h10	G	A	2: 86,808,918 (GRCm39)	S74L	probably damaging	Het
Pcnx2	A	T	8: 126,587,797 (GRCm39)		probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,097,224 (GRCm39)	S792P	probably damaging	Het
Plppr4	A	T	3: 117,129,240 (GRCm39)	L76M	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,709 (GRCm39)	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,519,939 (GRCm39)	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,181 (GRCm39)	S196L	probably benign	Het
Ptpn21	A	C	12: 98,655,555 (GRCm39)	S471A	probably damaging	Het
Ptprk	C	A	10: 28,456,480 (GRCm39)	S9*	probably null	Het
Rassf4	A	T	6: 116,622,103 (GRCm39)	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,104,034 (GRCm39)	R142S	probably damaging	Het
Rit2	C	A	18: 31,345,726 (GRCm39)	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,831,607 (GRCm39)	S187A	probably benign	Het
Rspo2	A	T	15: 42,956,583 (GRCm39)	Y83*	probably null	Het
Scn5a	C	T	9: 119,363,773 (GRCm39)	V456M	probably benign	Het
Scn9a	T	A	2: 66,382,057 (GRCm39)	H290L	probably benign	Het
Smarca4	T	C	9: 21,550,623 (GRCm39)	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612 (GRCm39)	I198K	probably damaging	Het
Smim14	G	A	5: 65,617,946 (GRCm39)		probably benign	Het
Spg11	A	C	2: 121,938,936 (GRCm39)	N339K	probably benign	Het
Spta1	A	G	1: 174,065,493 (GRCm39)	E2014G	probably benign	Het
Stk4	T	C	2: 163,941,747 (GRCm39)		probably null	Het
Sypl1	C	T	12: 33,017,645 (GRCm39)	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,634,331 (GRCm39)	F138I	probably benign	Het
Tcstv4	G	A	13: 120,769,926 (GRCm39)	C82Y	possibly damaging	Het
Tet2	A	C	3: 133,182,381 (GRCm39)	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,905,668 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,197,067 (GRCm39)	T91S	possibly damaging	Het
Tnik	A	T	3: 28,593,690 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,685,974 (GRCm39)	I402F	probably benign	Het
Unc93b1	A	T	19: 3,994,293 (GRCm39)	S475C	probably damaging	Het
Utrn	T	A	10: 12,539,205 (GRCm39)	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,955,927 (GRCm39)		noncoding transcript	Het
Vmn2r101	G	A	17: 19,832,229 (GRCm39)	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,083,635 (GRCm39)	L3P	possibly damaging	Het
Zfp882	T	G	8: 72,668,233 (GRCm39)	H353Q	probably damaging	Het

Other mutations in P3h3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:P3h3	APN	6	124,822,552 (GRCm39)	missense	probably benign	0.26
IGL02158:P3h3	APN	6	124,830,055 (GRCm39)	missense	probably damaging	1.00
IGL02654:P3h3	APN	6	124,822,228 (GRCm39)	missense	possibly damaging	0.95
P0040:P3h3	UTSW	6	124,830,099 (GRCm39)	missense	probably damaging	0.99
R0024:P3h3	UTSW	6	124,834,421 (GRCm39)	missense	probably benign
R0196:P3h3	UTSW	6	124,822,235 (GRCm39)	missense	probably damaging	1.00
R0328:P3h3	UTSW	6	124,831,269 (GRCm39)	unclassified	probably benign
R0589:P3h3	UTSW	6	124,818,644 (GRCm39)	missense	probably damaging	1.00
R0605:P3h3	UTSW	6	124,832,998 (GRCm39)	missense	probably damaging	1.00
R0793:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0794:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0795:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0796:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0853:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0854:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0856:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0893:P3h3	UTSW	6	124,822,476 (GRCm39)	missense	probably damaging	1.00
R1819:P3h3	UTSW	6	124,831,895 (GRCm39)	missense	probably benign	0.05
R2100:P3h3	UTSW	6	124,822,005 (GRCm39)	missense	probably damaging	1.00
R4332:P3h3	UTSW	6	124,819,099 (GRCm39)	missense	probably damaging	1.00
R4461:P3h3	UTSW	6	124,822,531 (GRCm39)	missense	probably benign	0.08
R4533:P3h3	UTSW	6	124,831,371 (GRCm39)	missense	possibly damaging	0.62
R4840:P3h3	UTSW	6	124,827,600 (GRCm39)	missense	possibly damaging	0.82
R4962:P3h3	UTSW	6	124,818,736 (GRCm39)	missense	probably benign	0.09
R5014:P3h3	UTSW	6	124,832,199 (GRCm39)	missense	probably damaging	1.00
R5591:P3h3	UTSW	6	124,831,658 (GRCm39)	unclassified	probably benign
R5691:P3h3	UTSW	6	124,832,116 (GRCm39)	missense	probably damaging	1.00
R5777:P3h3	UTSW	6	124,832,921 (GRCm39)	missense	probably benign	0.24
R5846:P3h3	UTSW	6	124,834,157 (GRCm39)	critical splice donor site	probably null
R6212:P3h3	UTSW	6	124,822,606 (GRCm39)	missense	probably benign	0.19
R6254:P3h3	UTSW	6	124,822,564 (GRCm39)	missense	probably damaging	1.00
R6320:P3h3	UTSW	6	124,831,835 (GRCm39)	missense	probably benign	0.02
R6860:P3h3	UTSW	6	124,834,331 (GRCm39)	missense	probably benign	0.01
R7385:P3h3	UTSW	6	124,832,233 (GRCm39)	missense	probably damaging	1.00
R7472:P3h3	UTSW	6	124,827,594 (GRCm39)	missense	possibly damaging	0.92
R7617:P3h3	UTSW	6	124,832,969 (GRCm39)	missense	probably damaging	1.00
R7763:P3h3	UTSW	6	124,831,395 (GRCm39)	missense	probably benign	0.00
R7831:P3h3	UTSW	6	124,832,118 (GRCm39)	missense	possibly damaging	0.86
R8317:P3h3	UTSW	6	124,832,116 (GRCm39)	missense	probably damaging	1.00
R8436:P3h3	UTSW	6	124,828,041 (GRCm39)	critical splice donor site	probably null
R8749:P3h3	UTSW	6	124,822,940 (GRCm39)	missense	probably damaging	0.99
R8944:P3h3	UTSW	6	124,832,196 (GRCm39)	missense	possibly damaging	0.86
R8988:P3h3	UTSW	6	124,834,564 (GRCm39)	missense	possibly damaging	0.74
R9508:P3h3	UTSW	6	124,830,012 (GRCm39)	critical splice donor site	probably null
X0021:P3h3	UTSW	6	124,832,992 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTCAGGGAGGCATAGTG -3'
(R):5'- CAGAAGCCAAAGAGCTGCTG -3'

Sequencing Primer
(F):5'- CTTGCAGGTCCCTCAGC -3'
(R):5'- CCAAAGAGCTGCTGCAGGAG -3'

Posted On

2016-03-01