Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:P3h1'

23285

Institutional Source

Beutler Lab

Gene Symbol

P3h1

Ensembl Gene

ENSMUSG00000028641

Gene Name

prolyl 3-hydroxylase 1

Synonyms

2410024C15Rik, Lepre1, Leprecan, Gros1

MMRRC Submission

038453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0194 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

119090112-119106172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119095149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 302 (F302Y)

Ref Sequence

ENSEMBL: ENSMUSP00000119695 (fasta)

Gene Model

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

AlphaFold

Q3V1T4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030393
AA Change: F302Y

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: F302Y

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

possibly damaging
Transcript: ENSMUST00000081606
AA Change: F123Y

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641
AA Change: F123Y

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

possibly damaging
Transcript: ENSMUST00000102662
AA Change: F302Y

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: F302Y

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

possibly damaging
Transcript: ENSMUST00000121111
AA Change: F302Y

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: F302Y

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: ENSMUST00000126056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131875

Predicted Effect

probably damaging
Transcript: ENSMUST00000136278
AA Change: F302Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641
AA Change: F302Y

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: ENSMUST00000153940

Meta Mutation Damage Score

0.1099

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,036,859 (GRCm39)	D107E	probably benign	Het
Esrrb	A	T	12: 86,517,255 (GRCm39)	D108V	probably damaging	Het
Exo1	A	G	1: 175,719,596 (GRCm39)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 120,262,108 (GRCm39)	N347I	probably damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,718 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,136,059 (GRCm39)	V494I	probably benign	Het
Slc13a5	T	A	11: 72,152,956 (GRCm39)	I42L	possibly damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (GRCm39)		probably benign	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
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
R5965:P3h1	UTSW	4	119,105,424 (GRCm39)	missense	probably benign	0.00
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'- GTTCACACATGCCACATACTTGCAC -3'
(R):5'- CATGTTGCCTCCCACAGACATAGC -3'

Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
(R):5'- CATAGCTGCTAGACATGCTGAAG -3'

Posted On

2013-04-16