Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:P4ha3'

326472

Institutional Source

Beutler Lab

Gene Symbol

P4ha3

Ensembl Gene

ENSMUSG00000051048

Gene Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III

Synonyms

MMRRC Submission

041128-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100285520-100319699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100305607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 291 (P291S)

Ref Sequence

ENSEMBL: ENSMUSP00000055297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057023
AA Change: P291S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: P291S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:P4Ha_N	31	159	1.4e-31	PFAM
SCOP:d1ihga1	177	258	8e-4	SMART
P4Hc	344	526	1.08e-50	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000138465
AA Change: P157S

SMART Domains

Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: P157S

Domain	Start	End	E-Value	Type
PDB:4BTB\|A	1	141	7e-17	PDB
SCOP:d1ihga1	44	125	4e-4	SMART
P4Hc	211	372	4.89e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139790

SMART Domains

Protein: ENSMUSP00000117015
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208565

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944		noncoding transcript	Het
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Adgrl1	T	C	8: 83,938,593	V1353A	probably benign	Het
Casc1	T	C	6: 145,194,578	T166A	possibly damaging	Het
Cep68	A	T	11: 20,238,544	N620K	probably benign	Het
Clcnkb	A	G	4: 141,412,236	S152P	probably benign	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Cyp26c1	G	A	19: 37,686,657	R142H	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dlg5	T	A	14: 24,177,989		probably null	Het
Ebf3	C	T	7: 137,225,157	R342H	probably damaging	Het
Ece2	T	C	16: 20,632,848	V380A	probably damaging	Het
Epb41l4a	C	T	18: 33,891,420		probably null	Het
Erbb3	G	T	10: 128,572,770	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,265,621	M651K	probably benign	Het
Fam3b	C	A	16: 97,481,786		probably null	Het
Foxp2	A	C	6: 15,377,690		probably benign	Het
Gdf10	T	C	14: 33,932,738	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Gm6408	A	T	5: 146,482,337	D54V	probably damaging	Het
Gm8909	C	A	17: 36,161,969		probably benign	Het
Hcn4	A	G	9: 58,844,300	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Hyou1	T	A	9: 44,381,872	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577		probably null	Het
Immt	T	A	6: 71,872,800	S435T	probably benign	Het
Kcnip2	A	G	19: 45,812,230	L19P	probably benign	Het
Kctd2	T	C	11: 115,429,500		probably benign	Het
Mdga1	T	C	17: 29,850,517	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Msl2	A	G	9: 101,101,477	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Myo3a	A	T	2: 22,577,854	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,694,219	E396G	probably damaging	Het
Ogdh	G	A	11: 6,316,772	G141D	probably damaging	Het
Olfr1133	A	T	2: 87,645,912	C70*	probably null	Het
Olfr1491	T	C	19: 13,705,190	I121T	possibly damaging	Het
Olfr92	T	C	17: 37,114,084		probably benign	Het
Orc2	C	A	1: 58,467,650		probably null	Het
Pign	T	C	1: 105,522,026	K925R	probably benign	Het
Plekhm1	A	G	11: 103,376,965	S727P	possibly damaging	Het
Prr36	G	T	8: 4,214,901		probably benign	Het
Prrt3	A	G	6: 113,494,946	L755P	probably benign	Het
Secisbp2	A	G	13: 51,654,466	H89R	probably damaging	Het
Sgms2	A	T	3: 131,341,817		probably null	Het
Slc35d3	T	C	10: 19,849,606		probably null	Het
Slu7	T	A	11: 43,439,269	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,892,446	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,987,623	G85V	probably damaging	Het
Tmem51	T	C	4: 142,031,931	T169A	probably benign	Het
Tmem69	C	T	4: 116,554,767		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,045,178	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,847,654	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,572,060	T756A	probably benign	Het
Zfp606	C	T	7: 12,492,849	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,256,921	T365S	probably benign	Het

Other mutations in P4ha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:P4ha3	APN	7	100305933	missense	probably damaging	1.00
IGL01875:P4ha3	APN	7	100300652	missense	probably damaging	0.97
IGL02265:P4ha3	APN	7	100293932	missense	probably benign
IGL02957:P4ha3	APN	7	100318905	splice site	probably benign
IGL03279:P4ha3	APN	7	100300686	missense	probably damaging	1.00
R0006:P4ha3	UTSW	7	100318948	nonsense	probably null
R0880:P4ha3	UTSW	7	100305909	missense	probably benign	0.06
R1066:P4ha3	UTSW	7	100318063	missense	possibly damaging	0.77
R1118:P4ha3	UTSW	7	100313328	missense	probably damaging	0.99
R1119:P4ha3	UTSW	7	100313328	missense	probably damaging	0.99
R1236:P4ha3	UTSW	7	100293849	missense	probably damaging	1.00
R1613:P4ha3	UTSW	7	100313250	missense	possibly damaging	0.95
R1778:P4ha3	UTSW	7	100300691	splice site	probably null
R2042:P4ha3	UTSW	7	100300690	critical splice donor site	probably null
R3437:P4ha3	UTSW	7	100285624	missense	possibly damaging	0.93
R5411:P4ha3	UTSW	7	100293815	missense	probably damaging	1.00
R5722:P4ha3	UTSW	7	100305991	missense	probably benign	0.03
R6209:P4ha3	UTSW	7	100317085	missense	probably benign	0.09
R6462:P4ha3	UTSW	7	100314666	missense	probably damaging	1.00
R6606:P4ha3	UTSW	7	100305644	missense	probably damaging	0.99
R7578:P4ha3	UTSW	7	100293914	missense	probably benign	0.02
R7769:P4ha3	UTSW	7	100285717	missense	probably damaging	0.97
R8031:P4ha3	UTSW	7	100292698	missense	probably damaging	1.00
R8090:P4ha3	UTSW	7	100300652	missense	probably damaging	0.97
R8296:P4ha3	UTSW	7	100317102	missense	probably damaging	1.00
R8379:P4ha3	UTSW	7	100293779	missense	probably damaging	0.99
R8501:P4ha3	UTSW	7	100313355	missense	probably damaging	1.00
R8516:P4ha3	UTSW	7	100314662	missense	probably damaging	0.97
R8692:P4ha3	UTSW	7	100306021	missense	probably damaging	0.99
RF033:P4ha3	UTSW	7	100310810	frame shift	probably null
Z1177:P4ha3	UTSW	7	100293788	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AGTTCTTTCTGAGGCCAGTG -3'
(R):5'- TCTCATAGGAGCAGTAGAGGCTG -3'

Sequencing Primer
(F):5'- CTGAGGCCAGTGTTTGTTCATATG -3'
(R):5'- CTATTAGAAGATGGAGCCATTTGG -3'

Posted On

2015-07-06