Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:P3h3'

385426

Institutional Source

Beutler Lab

Gene Symbol

P3h3

Ensembl Gene

ENSMUSG00000023191

Gene Name

prolyl 3-hydroxylase 3

Synonyms

Leprel2, Grcb

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5014 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

124818052-124834680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124832199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 229 (E229V)

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: E229V

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

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: E229V

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: E229V

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

SMART Domains

Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191
AA Change: E229V

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204161

Meta Mutation Damage Score

0.2285

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,896 (GRCm39)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,840,957 (GRCm39)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,112,438 (GRCm39)	T517A	probably benign	Het
Blk	T	G	14: 63,617,236 (GRCm39)	N257T	probably benign	Het
Brd4	A	T	17: 32,417,372 (GRCm39)		probably benign	Het
Calr4	C	T	4: 109,092,994 (GRCm39)	Q25*	probably null	Het
Cbl	T	C	9: 44,065,696 (GRCm39)		probably null	Het
Ccdc30	T	G	4: 119,250,824 (GRCm39)	H6P	possibly damaging	Het
Cd101	A	C	3: 100,911,139 (GRCm39)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,556,165 (GRCm39)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,803,952 (GRCm39)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,207,291 (GRCm39)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,925,765 (GRCm39)	M58K	probably benign	Het
Clip1	T	C	5: 123,755,793 (GRCm39)	E860G	probably damaging	Het
Col18a1	C	T	10: 76,906,794 (GRCm39)		probably null	Het
Cul7	A	G	17: 46,966,868 (GRCm39)	*650W	probably null	Het
Dkk4	C	T	8: 23,115,315 (GRCm39)	A55V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnai7	T	C	6: 145,128,992 (GRCm39)	E407G	probably damaging	Het
Dnase1	C	A	16: 3,856,880 (GRCm39)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,823,550 (GRCm39)	I1019S	probably benign	Het
Epha6	T	A	16: 59,486,942 (GRCm39)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,177,776 (GRCm39)	T408A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Galnt7	T	C	8: 57,998,414 (GRCm39)	E305G	probably damaging	Het
Garin1b	C	T	6: 29,326,723 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,389,821 (GRCm39)	V28E	probably damaging	Het
Gm10010	C	T	6: 128,177,556 (GRCm39)		noncoding transcript	Het
Gm4956	T	C	1: 21,363,821 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,193,506 (GRCm39)	V349G	probably benign	Het
Gtsf1l	C	T	2: 162,929,112 (GRCm39)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 81,953,974 (GRCm39)	G114A	probably benign	Het
Hk2	T	C	6: 82,720,936 (GRCm39)	Q166R	possibly damaging	Het
Hook2	A	G	8: 85,718,006 (GRCm39)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,541,921 (GRCm39)	M222K	probably damaging	Het
Ints6	A	T	14: 62,997,640 (GRCm39)	F55Y	probably benign	Het
Kcnh1	A	G	1: 191,959,388 (GRCm39)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,746,748 (GRCm39)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,826,407 (GRCm39)		probably benign	Het
Msh2	A	T	17: 88,025,004 (GRCm39)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,251,534 (GRCm39)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,630,401 (GRCm39)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,512,185 (GRCm39)		probably benign	Het
Or2c1	T	A	16: 3,656,912 (GRCm39)	I25N	probably benign	Het
Or2h2	T	A	17: 37,396,446 (GRCm39)	I204F	probably benign	Het
Or8s8	T	C	15: 98,354,857 (GRCm39)	V222A	possibly damaging	Het
Ppfia2	T	A	10: 106,701,224 (GRCm39)	L837*	probably null	Het
Ppp2r1a	G	A	17: 21,179,101 (GRCm39)		probably null	Het
Rabgap1	T	A	2: 37,377,152 (GRCm39)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,337,455 (GRCm39)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,299,942 (GRCm39)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,355,161 (GRCm39)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,328,704 (GRCm39)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,980,770 (GRCm39)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,298,460 (GRCm39)	L315R	probably damaging	Het
Skic2	A	G	17: 35,066,401 (GRCm39)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,290,987 (GRCm39)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,651,866 (GRCm39)	K62*	probably null	Het
Sox30	T	C	11: 45,882,736 (GRCm39)	S589P	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Tecta	C	T	9: 42,284,538 (GRCm39)	C849Y	probably damaging	Het
Thbs1	T	A	2: 117,950,518 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tut4	T	C	4: 108,384,043 (GRCm39)		probably benign	Het
Tyk2	C	T	9: 21,027,126 (GRCm39)		probably null	Het
Tyw5	C	A	1: 57,446,004 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Wdfy4	A	T	14: 32,822,897 (GRCm39)	C1401S	probably benign	Het
Wiz	T	C	17: 32,578,340 (GRCm39)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,061,523 (GRCm39)	E475K	unknown	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp184	A	G	13: 22,142,594 (GRCm39)	D100G	probably benign	Het
Zfp990	T	A	4: 145,264,669 (GRCm39)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm39)	P189L	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
R4829:P3h3	UTSW	6	124,818,601 (GRCm39)	utr 3 prime	probably benign
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
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'- TTCCTCAGACATCAGAGCTCTC -3'
(R):5'- TCTGATTCTGAGGCCACACC -3'

Sequencing Primer
(F):5'- GACATCAGAGCTCTCCCACAG -3'
(R):5'- TCACTATGCAGACCAGGTTG -3'

Posted On

2016-05-10