Mutagenetix > Incidental Mutation

Incidental Mutation 'R8501:P4ha3'

655324

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

Accession Numbers

Is this an essential gene?

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

Stock #

R8501 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100285520-100319699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100313355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 440 (D440G)

Ref Sequence

ENSEMBL: ENSMUSP00000055297 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057023
AA Change: D440G

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

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: D440G

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

SMART Domains

Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: D306G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
5031439G07Rik	C	T	15: 84,960,523	V98M	probably damaging	Het
Agbl2	G	A	2: 90,797,564	G238R	probably damaging	Het
Atg2a	T	C	19: 6,254,390	S1146P	probably damaging	Het
Atg3	C	A	16: 45,182,931	D207E	probably damaging	Het
Atp8b3	A	G	10: 80,520,146	V1244A	probably benign	Het
Cacna1i	T	C	15: 80,382,046		probably null	Het
Ccdc171	G	T	4: 83,663,658	E675*	probably null	Het
Cep68	A	T	11: 20,239,132	S627T	unknown	Het
Chrnd	T	C	1: 87,192,616	W165R	probably damaging	Het
Col6a2	G	T	10: 76,603,557	A791D	probably damaging	Het
Dlg2	C	A	7: 92,375,722	S598R	probably damaging	Het
Elfn2	G	T	15: 78,674,300	Q16K	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpr165	C	A	X: 96,714,017	D7E	probably benign	Het
Grm8	A	T	6: 27,618,541	M434K	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igf2	G	C	7: 142,654,042	P106R	probably damaging	Het
Klf7	T	C	1: 64,079,163	S92G	probably benign	Het
Mme	T	A	3: 63,326,735	M73K	probably damaging	Het
Musk	G	C	4: 58,367,502	K588N	probably damaging	Het
Naa30	C	A	14: 49,172,896	H94N	possibly damaging	Het
Naip6	C	T	13: 100,300,276	A580T	possibly damaging	Het
Nfya	A	G	17: 48,398,989	L52P	unknown	Het
Olfr126	A	G	17: 37,850,865	Y91C	probably damaging	Het
Olfr346	A	G	2: 36,688,797	N265S	probably benign	Het
Olfr65	T	A	7: 103,906,611	H54Q		Het
Otogl	A	T	10: 107,790,560	M1481K	probably benign	Het
Pcdhb13	A	T	18: 37,444,440	T624S	probably damaging	Het
Piezo2	A	G	18: 63,045,540	Y1769H	probably damaging	Het
Plekha6	T	A	1: 133,287,837	V913E	probably benign	Het
Rapgefl1	A	G	11: 98,842,227	E211G	possibly damaging	Het
Rcc2	T	C	4: 140,715,926	L305P	probably damaging	Het
Rgs3	G	T	4: 62,602,956	V47F	possibly damaging	Het
Scly	A	G	1: 91,319,076	S370G	probably damaging	Het
Setmar	T	A	6: 108,075,861	D105E	probably benign	Het
Slc9a9	A	G	9: 94,855,739	Y233C	probably damaging	Het
Sp140	A	T	1: 85,641,740	N357I	probably damaging	Het
Trim30c	G	C	7: 104,387,470	T227R	probably benign	Het
Unc79	G	A	12: 103,092,638	V1014I	probably damaging	Het
Vmn1r151	A	T	7: 22,499,609	F24I	probably damaging	Het
Vmn2r78	T	C	7: 86,920,886	V204A	probably damaging	Het
Vps13a	T	C	19: 16,682,120	D1681G	probably benign	Het
Vwa2	T	C	19: 56,908,982	V573A	probably benign	Het
Wfdc2	A	G	2: 164,563,359	D44G	probably damaging	Het
Zfp40	T	A	17: 23,178,298	N75I	probably damaging	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
R4393:P4ha3	UTSW	7	100305607	missense	probably benign	0.06
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
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'- TGCAGTACTTCCAACATCAGATC -3'
(R):5'- ACTCGCAAATTCTGGAGAAGAG -3'

Sequencing Primer
(F):5'- GTACTTCCAACATCAGATCACTTATG -3'
(R):5'- TAAGAAACTGAATCCAAGAATCAGTG -3'

Posted On

2020-10-20