Mutagenetix > Incidental Mutation

Incidental Mutation 'R5965:P3h1'

472011

Institutional Source

Beutler Lab

Gene Symbol

P3h1

Ensembl Gene

ENSMUSG00000028641

Gene Name

prolyl 3-hydroxylase 1

Synonyms

2410024C15Rik, Lepre1, Leprecan, Gros1

MMRRC Submission

044150-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5965 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

119090112-119106172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119105424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 741 (H741Y)

Ref Sequence

ENSEMBL: ENSMUSP00000099723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030393] [ENSMUST00000081606] [ENSMUST00000102662] [ENSMUST00000121111] [ENSMUST00000136278]

AlphaFold

Q3V1T4

Predicted Effect

probably benign
Transcript: ENSMUST00000030393

SMART Domains

Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	213	2.49e-12	PROSPERO
internal_repeat_1	294	369	2.49e-12	PROSPERO
Blast:P4Hc	419	462	2e-14	BLAST
P4Hc	479	687	5.96e-53	SMART
low complexity region	714	725	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081606

SMART Domains

Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
SCOP:d1hxia_	80	195	4e-5	SMART
Blast:P4Hc	125	206	2e-11	BLAST
Blast:P4Hc	233	276	1e-14	BLAST
P4Hc	293	501	5.96e-53	SMART
low complexity region	528	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102662
AA Change: H741Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: H741Y

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	213	1.9e-12	PROSPERO
internal_repeat_1	294	369	1.9e-12	PROSPERO
Blast:P4Hc	412	455	2e-14	BLAST
P4Hc	472	680	5.96e-53	SMART
low complexity region	707	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121111

SMART Domains

Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	213	2.32e-12	PROSPERO
internal_repeat_1	294	369	2.32e-12	PROSPERO
Blast:P4Hc	412	455	2e-14	BLAST
P4Hc	472	680	5.96e-53	SMART
low complexity region	707	718	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150252

Predicted Effect

probably benign
Transcript: ENSMUST00000136278

SMART Domains

Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	198	6.76e-13	PROSPERO
internal_repeat_1	294	356	6.76e-13	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

98% (80/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced size, disproportional reduction in long bone length, decreased bone density, decreased bone mineral density, reduced body fat, delayed ossification, and abnormal collagen networks in the skin and tendons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,410,637 (GRCm39)	T23S	probably benign	Het
Armc2	A	G	10: 41,798,568 (GRCm39)	I747T	possibly damaging	Het
Cacna1c	T	A	6: 118,579,261 (GRCm39)	H1729L	probably damaging	Het
Crebbp	A	G	16: 3,905,525 (GRCm39)		probably benign	Het
Cyp4f17	T	A	17: 32,743,611 (GRCm39)	M326K	probably damaging	Het
Dchs1	T	G	7: 105,405,132 (GRCm39)	D2470A	probably damaging	Het
Ddhd2	T	C	8: 26,225,804 (GRCm39)	T518A	probably damaging	Het
Derl2	T	C	11: 70,905,378 (GRCm39)	T109A	probably benign	Het
Dnah7b	T	C	1: 46,402,147 (GRCm39)	L3994P	probably damaging	Het
Dock10	T	C	1: 80,546,461 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,599,212 (GRCm39)	S1856T	probably benign	Het
Ehd2	T	C	7: 15,685,999 (GRCm39)	K358E	possibly damaging	Het
Enpp2	A	G	15: 54,746,367 (GRCm39)		probably null	Het
Esco1	T	C	18: 10,593,867 (GRCm39)	E473G	possibly damaging	Het
Exoc5	A	G	14: 49,272,388 (GRCm39)	F342S	probably damaging	Het
Fam186a	T	A	15: 99,842,978 (GRCm39)	T1089S	probably benign	Het
Fanca	T	C	8: 124,043,149 (GRCm39)	D79G	possibly damaging	Het
Gabrb2	A	G	11: 42,517,696 (GRCm39)	Y506C	probably damaging	Het
Galntl6	T	C	8: 58,310,565 (GRCm39)	T379A	probably benign	Het
Garin2	T	A	12: 78,757,080 (GRCm39)	N12K	unknown	Het
Gm34768	A	G	2: 11,913,316 (GRCm39)		noncoding transcript	Het
Gps2	A	G	11: 69,805,620 (GRCm39)	E46G	possibly damaging	Het
Gsdmc	T	C	15: 63,676,447 (GRCm39)		probably null	Het
Gys1	C	T	7: 45,104,763 (GRCm39)	T666I	probably benign	Het
Hsd17b11	T	A	5: 104,169,651 (GRCm39)		probably benign	Het
Iffo1	T	A	6: 125,129,471 (GRCm39)		probably benign	Het
Ighv1-51	T	C	12: 115,095,177 (GRCm39)		noncoding transcript	Het
Kansl3	T	A	1: 36,384,601 (GRCm39)		probably null	Het
Kdm3a	A	G	6: 71,598,364 (GRCm39)	I174T	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Lair1	T	C	7: 4,032,023 (GRCm39)	D28G	possibly damaging	Het
Lama3	A	G	18: 12,562,944 (GRCm39)	D489G	possibly damaging	Het
Lamb3	A	T	1: 193,025,768 (GRCm39)	I1153F	probably damaging	Het
Lsp1	T	A	7: 142,044,161 (GRCm39)		probably null	Het
Man1a	A	G	10: 53,809,586 (GRCm39)		probably benign	Het
Mcam	A	C	9: 44,047,925 (GRCm39)	S57R	probably damaging	Het
Mrgprf	C	A	7: 144,861,168 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,999,529 (GRCm39)	*499Q	probably null	Het
Nmbr	C	A	10: 14,642,554 (GRCm39)	R38S	probably benign	Het
Or12e7	T	G	2: 87,288,381 (GRCm39)	F291V	probably benign	Het
Or51a25	C	A	7: 102,373,467 (GRCm39)	V77L	probably benign	Het
Or5h23	T	C	16: 58,906,666 (GRCm39)	Y60C	probably damaging	Het
Parp4	A	T	14: 56,861,489 (GRCm39)	M941L	probably benign	Het
Phaf1	T	C	8: 105,961,171 (GRCm39)	F69L	probably damaging	Het
Pik3c3	C	T	18: 30,431,633 (GRCm39)	T331M	probably damaging	Het
Prkg1	T	C	19: 30,701,556 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,112,233 (GRCm39)	V103D	probably benign	Het
Ranbp1	T	C	16: 18,063,092 (GRCm39)	T95A	probably damaging	Het
Ric1	G	A	19: 29,548,171 (GRCm39)	D280N	probably damaging	Het
Scd1	A	G	19: 44,388,579 (GRCm39)		probably null	Het
Serpinb3c	A	G	1: 107,204,653 (GRCm39)	I31T	probably benign	Het
Slc7a11	T	A	3: 50,333,593 (GRCm39)	Y386F	probably benign	Het
Smtnl2	A	T	11: 72,291,279 (GRCm39)		probably null	Het
Snx2	G	T	18: 53,327,534 (GRCm39)	E87*	probably null	Het
Tars2	A	C	3: 95,655,464 (GRCm39)		probably null	Het
Tax1bp1	C	A	6: 52,706,317 (GRCm39)	T106N	probably damaging	Het
Tcof1	A	G	18: 60,966,490 (GRCm39)		probably null	Het
Tenm3	C	A	8: 48,681,543 (GRCm39)	E2680*	probably null	Het
Thap7	C	T	16: 17,348,611 (GRCm39)		probably benign	Het
Thoc6	T	A	17: 23,889,842 (GRCm39)	I23F	possibly damaging	Het
Tmem185b	T	G	1: 119,454,294 (GRCm39)	Y18*	probably null	Het
Trav6-1	A	C	14: 52,876,254 (GRCm39)	Y58S	probably damaging	Het
Trbv16	A	T	6: 41,128,989 (GRCm39)	I58F	probably benign	Het
Ubtfl1	T	A	9: 18,320,838 (GRCm39)	M122K	probably benign	Het
Vps13a	T	C	19: 16,596,392 (GRCm39)		probably null	Het
Zdhhc24	T	G	19: 4,933,778 (GRCm39)	D278E	probably benign	Het
Zfp316	T	C	5: 143,250,427 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,548,878 (GRCm39)	T769A	possibly damaging	Het
Znhit6	T	A	3: 145,284,103 (GRCm39)	N96K	possibly damaging	Het

Other mutations in P3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:P3h1	APN	4	119,092,480 (GRCm39)	missense	probably damaging	1.00
IGL01623:P3h1	APN	4	119,092,480 (GRCm39)	missense	probably damaging	1.00
IGL01645:P3h1	APN	4	119,093,980 (GRCm39)	missense	probably damaging	1.00
IGL02140:P3h1	APN	4	119,095,062 (GRCm39)	missense	probably damaging	1.00
IGL02415:P3h1	APN	4	119,105,152 (GRCm39)	missense	probably benign
IGL02543:P3h1	APN	4	119,095,053 (GRCm39)	splice site	probably benign
IGL02870:P3h1	APN	4	119,104,768 (GRCm39)	missense	probably damaging	1.00
IGL02972:P3h1	APN	4	119,105,157 (GRCm39)	missense	possibly damaging	0.75
IGL03067:P3h1	APN	4	119,092,477 (GRCm39)	missense	probably damaging	0.99
IGL03077:P3h1	APN	4	119,093,983 (GRCm39)	missense	probably damaging	1.00
woohoo	UTSW	4	119,098,329 (GRCm39)	nonsense	probably null
R0194:P3h1	UTSW	4	119,095,149 (GRCm39)	missense	probably damaging	1.00
R0523:P3h1	UTSW	4	119,098,727 (GRCm39)	missense	probably benign	0.32
R0734:P3h1	UTSW	4	119,095,885 (GRCm39)	missense	probably damaging	1.00
R0944:P3h1	UTSW	4	119,095,956 (GRCm39)	missense	probably benign	0.00
R1018:P3h1	UTSW	4	119,095,104 (GRCm39)	missense	probably damaging	0.99
R1978:P3h1	UTSW	4	119,105,173 (GRCm39)	missense	probably null	0.00
R2697:P3h1	UTSW	4	119,104,377 (GRCm39)	missense	probably damaging	1.00
R5668:P3h1	UTSW	4	119,101,243 (GRCm39)	missense	possibly damaging	0.89
R5750:P3h1	UTSW	4	119,095,863 (GRCm39)	missense	probably damaging	0.96
R5987:P3h1	UTSW	4	119,103,862 (GRCm39)	missense	probably damaging	1.00
R6111:P3h1	UTSW	4	119,098,329 (GRCm39)	nonsense	probably null
R6786:P3h1	UTSW	4	119,095,151 (GRCm39)	missense	possibly damaging	0.65
R7142:P3h1	UTSW	4	119,104,358 (GRCm39)	missense	probably benign	0.00
R8068:P3h1	UTSW	4	119,094,059 (GRCm39)	missense	probably damaging	1.00
R8304:P3h1	UTSW	4	119,104,402 (GRCm39)	missense	probably damaging	1.00
R9502:P3h1	UTSW	4	119,094,008 (GRCm39)	missense	possibly damaging	0.86
R9680:P3h1	UTSW	4	119,090,428 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTAGGTCACAGTTGGGTGTC -3'
(R):5'- ACACTACCTAGAGGAGCTGC -3'

Sequencing Primer
(F):5'- CCTTGGACTCATGAGGGTGACTC -3'
(R):5'- TACCTAGAGGAGCTGCTACCAAG -3'

Posted On

2017-03-31