Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02870:P3h1'

362536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P3h1

Ensembl Gene

ENSMUSG00000028641

Gene Name

prolyl 3-hydroxylase 1

Synonyms

Lepre1, Gros1, 2410024C15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02870

Quality Score

Status

Chromosome

Chromosomal Location

119232915-119248975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119247571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 684 (R684W)

Ref Sequence

ENSEMBL: ENSMUSP00000099723 (fasta)

Gene Model

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

AlphaFold

Q3V1T4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030393
AA Change: R691W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: R691W

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 damaging
Transcript: ENSMUST00000081606
AA Change: R505W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641
AA Change: R505W

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 damaging
Transcript: ENSMUST00000102662
AA Change: R684W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: R684W

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 damaging
Transcript: ENSMUST00000121111
AA Change: R684W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: R684W

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153940

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,563,732	V1042M	probably benign	Het
Agmat	C	A	4: 141,746,942	H45N	probably benign	Het
Akap13	T	A	7: 75,609,188	V520D	probably damaging	Het
Ccser1	T	A	6: 61,311,292	N146K	probably damaging	Het
Cdhr4	T	A	9: 107,998,064		probably null	Het
Col4a1	G	A	8: 11,221,375	T753I	probably benign	Het
Cyp3a59	T	C	5: 146,098,184	I224T	probably benign	Het
Ddx19a	G	T	8: 110,983,626	P114Q	probably damaging	Het
Eftud2	A	G	11: 102,862,626	V275A	probably damaging	Het
Fgd6	T	C	10: 94,045,164	S627P	probably damaging	Het
Flywch1	C	T	17: 23,755,902	G541D	probably damaging	Het
Grk2	T	C	19: 4,290,402	D317G	probably damaging	Het
H2-M5	T	C	17: 36,989,033	E83G	probably benign	Het
Hltf	T	C	3: 20,099,873	F658L	probably damaging	Het
Hmmr	G	T	11: 40,714,075	Q390K	possibly damaging	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Nsd1	A	T	13: 55,313,603	T2548S	probably benign	Het
Olfr341	G	A	2: 36,480,031	A33V	probably benign	Het
Peli2	G	A	14: 48,256,265	V315M	probably damaging	Het
Pfkl	T	A	10: 78,000,839	K115*	probably null	Het
Plcxd1	A	G	5: 110,101,405	T33A	probably damaging	Het
Ranbp17	A	G	11: 33,243,262	S931P	probably damaging	Het
Retsat	T	C	6: 72,607,024	Y500H	probably damaging	Het
Rfx8	C	T	1: 39,683,711	V249I	possibly damaging	Het
Runx1t1	A	T	4: 13,889,867	I599L	unknown	Het
Sardh	A	T	2: 27,235,491	I337N	possibly damaging	Het
Serpinb7	A	T	1: 107,450,287	M237L	probably damaging	Het
Slc35f1	A	G	10: 52,933,207	S97G	possibly damaging	Het
Stab1	T	C	14: 31,139,397	D2520G	probably benign	Het
Tnfrsf11b	C	T	15: 54,256,027	V184M	probably benign	Het
Trpv4	A	T	5: 114,625,056	V764E	probably damaging	Het
Tsc22d1	C	A	14: 76,417,617	A430E	probably benign	Het
Ttn	T	C	2: 76,750,605	R23315G	probably damaging	Het
Txnrd1	A	G	10: 82,895,979	I478M	probably benign	Het
Ush2a	T	C	1: 188,678,358	V2401A	probably benign	Het
Vill	T	C	9: 119,061,899	L191P	probably damaging	Het
Vmn1r30	A	G	6: 58,435,370	V159A	probably benign	Het
Washc4	T	A	10: 83,585,876	N939K	probably benign	Het
Wdfy3	A	G	5: 101,855,471	V2926A	probably damaging	Het
Wdr7	T	C	18: 63,791,843	S966P	probably benign	Het
Zfp12	C	A	5: 143,245,331	T471N	probably damaging	Het

Other mutations in P3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:P3h1	APN	4	119235283	missense	probably damaging	1.00
IGL01623:P3h1	APN	4	119235283	missense	probably damaging	1.00
IGL01645:P3h1	APN	4	119236783	missense	probably damaging	1.00
IGL02140:P3h1	APN	4	119237865	missense	probably damaging	1.00
IGL02415:P3h1	APN	4	119247955	missense	probably benign
IGL02543:P3h1	APN	4	119237856	splice site	probably benign
IGL02972:P3h1	APN	4	119247960	missense	possibly damaging	0.75
IGL03067:P3h1	APN	4	119235280	missense	probably damaging	0.99
IGL03077:P3h1	APN	4	119236786	missense	probably damaging	1.00
woohoo	UTSW	4	119241132	nonsense	probably null
R0194:P3h1	UTSW	4	119237952	missense	probably damaging	1.00
R0523:P3h1	UTSW	4	119241530	missense	probably benign	0.32
R0734:P3h1	UTSW	4	119238688	missense	probably damaging	1.00
R0944:P3h1	UTSW	4	119238759	missense	probably benign	0.00
R1018:P3h1	UTSW	4	119237907	missense	probably damaging	0.99
R1978:P3h1	UTSW	4	119247976	missense	probably null	0.00
R2697:P3h1	UTSW	4	119247180	missense	probably damaging	1.00
R5668:P3h1	UTSW	4	119244046	missense	possibly damaging	0.89
R5750:P3h1	UTSW	4	119238666	missense	probably damaging	0.96
R5965:P3h1	UTSW	4	119248227	missense	probably benign	0.00
R5987:P3h1	UTSW	4	119246665	missense	probably damaging	1.00
R6111:P3h1	UTSW	4	119241132	nonsense	probably null
R6786:P3h1	UTSW	4	119237954	missense	possibly damaging	0.65
R7142:P3h1	UTSW	4	119247161	missense	probably benign	0.00
R8068:P3h1	UTSW	4	119236862	missense	probably damaging	1.00
R8304:P3h1	UTSW	4	119247205	missense	probably damaging	1.00
R9502:P3h1	UTSW	4	119236811	missense	possibly damaging	0.86
R9680:P3h1	UTSW	4	119233231	missense	probably benign	0.17

Posted On

2015-12-18