Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:P3h3'

371724

Institutional Source

Beutler Lab

Gene Symbol

P3h3

Ensembl Gene

ENSMUSG00000023191

Gene Name

prolyl 3-hydroxylase 3

Synonyms

Leprel2, Grcb

MMRRC Submission

042453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124818052-124834680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124827600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 479 (Q479K)

Ref Sequence

ENSEMBL: ENSMUSP00000023958 (fasta)

Gene Model

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

AlphaFold

Q8CG70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023958
AA Change: Q479K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: Q479K

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

noncoding transcript
Transcript: ENSMUST00000129225

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: ENSMUST00000135546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149870

Meta Mutation Damage Score

0.1158

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 85,974,166 (GRCm39)	T161K	probably benign	Het
Actn3	G	A	19: 4,914,539 (GRCm39)	R530W	probably damaging	Het
Alg11	C	T	8: 22,558,026 (GRCm39)	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751 (GRCm39)	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,886,364 (GRCm39)	H1166R	probably benign	Het
Aspm	T	A	1: 139,398,269 (GRCm39)	D978E	possibly damaging	Het
Bod1l	C	T	5: 41,975,815 (GRCm39)	G1833D	probably damaging	Het
Brd3	A	G	2: 27,339,251 (GRCm39)	V676A	possibly damaging	Het
Brip1	G	A	11: 86,037,009 (GRCm39)	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,827,723 (GRCm39)	I165V	probably benign	Het
Camta1	T	A	4: 151,228,864 (GRCm39)	Q656L	probably benign	Het
Casp14	A	T	10: 78,549,178 (GRCm39)	L256*	probably null	Het
Cdh23	G	T	10: 60,255,556 (GRCm39)	H773Q	possibly damaging	Het
Chd1	G	T	17: 15,989,016 (GRCm39)	D1590Y	probably damaging	Het
Chd1	G	A	17: 15,989,015 (GRCm39)	W1589*	probably null	Het
Cldn19	A	G	4: 119,112,951 (GRCm39)	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,631,949 (GRCm39)	S436P	probably benign	Het
Emc10	A	C	7: 44,142,051 (GRCm39)	V124G	probably damaging	Het
Enam	A	T	5: 88,650,885 (GRCm39)	D723V	probably benign	Het
Eps8	C	A	6: 137,504,128 (GRCm39)	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,263,253 (GRCm39)	D486N	probably damaging	Het
Fasn	T	C	11: 120,703,885 (GRCm39)	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,169,844 (GRCm39)	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,168,602 (GRCm39)	K30R	probably null	Het
Flot2	T	A	11: 77,948,339 (GRCm39)	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,779,739 (GRCm39)	I162L	probably benign	Het
Fsip2	A	T	2: 82,815,815 (GRCm39)	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,858,154 (GRCm39)	P60R	probably damaging	Het
Galnt14	T	C	17: 73,811,893 (GRCm39)	R443G	probably benign	Het
Gas8	C	T	8: 124,257,753 (GRCm39)	T400M	probably benign	Het
Gfap	T	C	11: 102,785,214 (GRCm39)	Y254C	probably damaging	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,740,349 (GRCm39)	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10787	G	A	10: 76,857,841 (GRCm39)		noncoding transcript	Het
Gm1123	T	A	9: 98,900,622 (GRCm39)	D78V	probably damaging	Het
Gm27013	T	C	6: 130,655,079 (GRCm39)	T128A	probably benign	Het
Gpbp1	A	G	13: 111,577,164 (GRCm39)		probably null	Het
Gphn	G	A	12: 78,569,729 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,823 (GRCm39)	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,765,596 (GRCm39)	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,248,131 (GRCm39)	W19R	probably damaging	Het
Gvin-ps3	T	C	7: 105,680,627 (GRCm39)		noncoding transcript	Het
Helb	A	G	10: 119,920,763 (GRCm39)	V1060A	probably benign	Het
Igfn1	C	T	1: 135,895,778 (GRCm39)	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,366,547 (GRCm39)	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,449,676 (GRCm39)	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,759,775 (GRCm39)	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,481,715 (GRCm39)	Y144S	possibly damaging	Het
Layn	C	T	9: 50,968,682 (GRCm39)	V354M	probably damaging	Het
Lrba	G	A	3: 86,526,816 (GRCm39)		probably null	Het
Lrp8	T	A	4: 107,727,234 (GRCm39)	L893Q	possibly damaging	Het
Mrps9	T	A	1: 42,937,575 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Myo18b	A	C	5: 113,021,895 (GRCm39)	V499G	probably benign	Het
Nbea	T	C	3: 55,618,091 (GRCm39)	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,211,552 (GRCm39)	V160I	probably benign	Het
Nup210	G	A	6: 91,008,650 (GRCm39)	Q510*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or2ag12	T	G	7: 106,277,330 (GRCm39)	D121A	probably damaging	Het
Paqr9	T	A	9: 95,442,723 (GRCm39)	F238I	probably damaging	Het
Parp3	A	T	9: 106,350,308 (GRCm39)	L343H	probably damaging	Het
Pcdh18	A	C	3: 49,699,117 (GRCm39)	M1115R	probably damaging	Het
Pcdh8	A	G	14: 80,008,308 (GRCm39)	V85A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,452 (GRCm39)	N254S	possibly damaging	Het
Pld1	T	C	3: 28,130,700 (GRCm39)	V500A	probably benign	Het
Pramel29	T	C	4: 143,935,144 (GRCm39)	K199R	probably damaging	Het
Prkg2	A	T	5: 99,129,002 (GRCm39)	D311E	probably benign	Het
Prss42	T	C	9: 110,628,369 (GRCm39)	L171P	probably damaging	Het
Pth2	T	A	7: 44,830,767 (GRCm39)	L17H	probably damaging	Het
Reln	A	T	5: 22,223,844 (GRCm39)		probably null	Het
Rmi2	G	T	16: 10,657,701 (GRCm39)	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,179,831 (GRCm39)	V108D	probably damaging	Het
Rufy4	C	A	1: 74,168,198 (GRCm39)	T82K	possibly damaging	Het
Scimp	G	A	11: 70,682,294 (GRCm39)	Q141*	probably null	Het
Sel1l2	T	C	2: 140,105,390 (GRCm39)	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,400 (GRCm39)	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Slc30a6	T	C	17: 74,712,716 (GRCm39)	L71P	probably damaging	Het
Srrm3	A	G	5: 135,883,449 (GRCm39)	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,560,615 (GRCm39)	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,032,528 (GRCm39)	T77S	probably benign	Het
Thsd7b	T	C	1: 129,523,581 (GRCm39)	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Tonsl	A	G	15: 76,517,409 (GRCm39)	V770A	probably benign	Het
Trim42	G	A	9: 97,244,982 (GRCm39)	P606L	probably benign	Het
Trim45	A	T	3: 100,832,804 (GRCm39)	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,433,947 (GRCm39)	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Tube1	A	G	10: 39,020,842 (GRCm39)	N243D	probably benign	Het
Tvp23b	G	T	11: 62,770,424 (GRCm39)		probably null	Het
Ubxn11	T	A	4: 133,836,919 (GRCm39)	I49N	probably damaging	Het
Usp17le	T	A	7: 104,418,977 (GRCm39)	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,510,353 (GRCm39)	V709D	probably damaging	Het
Vmn2r129	G	C	4: 156,685,733 (GRCm39)		noncoding transcript	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r60	C	T	7: 41,785,285 (GRCm39)	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,313,682 (GRCm39)	I97V	possibly damaging	Het
Wbp2nl	A	T	15: 82,198,537 (GRCm39)	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,228,183 (GRCm39)	I150N	probably damaging	Het
Zfp113	G	A	5: 138,143,687 (GRCm39)	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984 (GRCm39)	S362R	probably damaging	Het
Zfp593os	A	G	4: 133,972,587 (GRCm39)		probably benign	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
R4829:P3h3	UTSW	6	124,818,601 (GRCm39)	utr 3 prime	probably benign
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'- GGAGACTGTATCATGAATAAACTCAGC -3'
(R):5'- TCACTGGAAGGGTGAGTTCC -3'

Sequencing Primer
(F):5'- GTCTACAGAATGATCTCTAGGCAGC -3'
(R):5'- CACTGGAAGGGTGAGTTCCTTAATAC -3'

Posted On

2016-03-01