Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:P4ha3'

586580

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

D930031A02Rik

MMRRC Submission

045663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99934727-99968906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99943121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 169 (Y169H)

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: Y169H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: Y169H

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: Y35H

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: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,120,343 (GRCm39)	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,796,841 (GRCm39)	T75P	probably benign	Het
4930516K23Rik	T	C	7: 103,708,104 (GRCm39)	E235G	probably benign	Het
Adam15	A	G	3: 89,251,499 (GRCm39)	C449R	probably damaging	Het
Adam24	T	C	8: 41,133,294 (GRCm39)	V254A	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,595,366 (GRCm39)	R98S	probably damaging	Het
Alg9	A	G	9: 50,700,835 (GRCm39)	I202V	probably benign	Het
Anks1b	G	A	10: 89,885,789 (GRCm39)	E162K	probably damaging	Het
Atp6v1b2	A	G	8: 69,556,128 (GRCm39)	T268A	probably benign	Het
Atxn1	C	T	13: 45,720,834 (GRCm39)	V354I	probably benign	Het
B3galt1	A	G	2: 67,948,896 (GRCm39)	T204A	probably damaging	Het
Catsperb	T	A	12: 101,554,544 (GRCm39)	I746K	probably benign	Het
Cdh23	G	A	10: 60,243,186 (GRCm39)	T1063M	probably benign	Het
Cherp	G	A	8: 73,218,102 (GRCm39)	R543C		Het
Cldn20	A	G	17: 3,583,274 (GRCm39)	D149G	probably damaging	Het
Clk2	A	G	3: 89,083,807 (GRCm39)	Q474R	probably benign	Het
Cp	A	G	3: 20,043,262 (GRCm39)	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,499,400 (GRCm39)	L29P	probably damaging	Het
Ebf3	C	T	7: 136,915,261 (GRCm39)	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,787,328 (GRCm39)	M183L	probably damaging	Het
Fhip1a	G	T	3: 85,573,205 (GRCm39)	L915I	probably damaging	Het
Filip1l	A	G	16: 57,333,645 (GRCm39)	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,293 (GRCm39)	S283G	possibly damaging	Het
Fras1	A	T	5: 96,832,296 (GRCm39)	Y1543F	probably damaging	Het
Garin2	T	C	12: 78,762,275 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gjd3	A	G	11: 98,873,301 (GRCm39)	V181A	probably damaging	Het
Gm49368	T	A	7: 127,711,430 (GRCm39)	C711*	probably null	Het
Gtf3c2	A	G	5: 31,330,341 (GRCm39)	S210P	probably benign	Het
Herc2	A	G	7: 55,784,548 (GRCm39)	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,507,372 (GRCm39)	D128E	probably benign	Het
Itgav	T	A	2: 83,578,219 (GRCm39)	D113E	probably benign	Het
Kcnd3	A	G	3: 105,366,933 (GRCm39)	M268V	probably benign	Het
Kirrel3	G	T	9: 34,850,408 (GRCm39)	G19V	probably damaging	Het
Klf17	T	G	4: 117,617,916 (GRCm39)	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,668,382 (GRCm39)	R22H	probably damaging	Het
Lysmd4	T	A	7: 66,876,037 (GRCm39)	Y233*	probably null	Het
Lyzl6	A	G	11: 103,525,832 (GRCm39)	V96A	probably benign	Het
Mki67	T	C	7: 135,302,644 (GRCm39)	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,332,097 (GRCm39)	H399Q	probably benign	Het
Nuggc	T	C	14: 65,885,623 (GRCm39)	V766A	probably damaging	Het
Oas1c	A	T	5: 120,940,244 (GRCm39)	D307E	probably damaging	Het
Odad2	A	T	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Or10aa3	T	A	1: 173,878,266 (GRCm39)	M109K	possibly damaging	Het
Or6c5b	T	C	10: 129,245,544 (GRCm39)	I103T	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,417,585 (GRCm39)	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,388,271 (GRCm39)	D433G	probably benign	Het
Ptcd3	A	G	6: 71,885,691 (GRCm39)	S12P	probably benign	Het
Ptpn23	T	A	9: 110,216,676 (GRCm39)	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,914 (GRCm39)	N710K	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Satb2	A	G	1: 56,910,943 (GRCm39)	V234A	probably benign	Het
Scg2	T	C	1: 79,414,612 (GRCm39)	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,576,484 (GRCm39)	S230T	probably damaging	Het
Slc39a2	T	C	14: 52,132,873 (GRCm39)	V272A	probably damaging	Het
Smg7	T	A	1: 152,721,181 (GRCm39)	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,301,213 (GRCm39)	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,774,782 (GRCm39)	F102L	probably benign	Het
Sstr3	T	C	15: 78,424,717 (GRCm39)	E10G	probably benign	Het
Tekt3	A	T	11: 62,985,486 (GRCm39)	I431F	probably damaging	Het
Trio	C	T	15: 27,855,025 (GRCm39)	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,282,110 (GRCm39)	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,234,441 (GRCm39)	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,603,552 (GRCm39)	K577*	probably null	Het
Vps26c	A	C	16: 94,299,928 (GRCm39)	N275K	probably damaging	Het
Yes1	G	A	5: 32,802,430 (GRCm39)	R115Q	probably benign	Het

Other mutations in P4ha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:P4ha3	APN	7	99,955,140 (GRCm39)	missense	probably damaging	1.00
IGL01875:P4ha3	APN	7	99,949,859 (GRCm39)	missense	probably damaging	0.97
IGL02265:P4ha3	APN	7	99,943,139 (GRCm39)	missense	probably benign
IGL02957:P4ha3	APN	7	99,968,112 (GRCm39)	splice site	probably benign
IGL03279:P4ha3	APN	7	99,949,893 (GRCm39)	missense	probably damaging	1.00
R0006:P4ha3	UTSW	7	99,968,155 (GRCm39)	nonsense	probably null
R0880:P4ha3	UTSW	7	99,955,116 (GRCm39)	missense	probably benign	0.06
R1066:P4ha3	UTSW	7	99,967,270 (GRCm39)	missense	possibly damaging	0.77
R1118:P4ha3	UTSW	7	99,962,535 (GRCm39)	missense	probably damaging	0.99
R1119:P4ha3	UTSW	7	99,962,535 (GRCm39)	missense	probably damaging	0.99
R1236:P4ha3	UTSW	7	99,943,056 (GRCm39)	missense	probably damaging	1.00
R1613:P4ha3	UTSW	7	99,962,457 (GRCm39)	missense	possibly damaging	0.95
R1778:P4ha3	UTSW	7	99,949,898 (GRCm39)	splice site	probably null
R2042:P4ha3	UTSW	7	99,949,897 (GRCm39)	critical splice donor site	probably null
R3437:P4ha3	UTSW	7	99,934,831 (GRCm39)	missense	possibly damaging	0.93
R4393:P4ha3	UTSW	7	99,954,814 (GRCm39)	missense	probably benign	0.06
R5411:P4ha3	UTSW	7	99,943,022 (GRCm39)	missense	probably damaging	1.00
R5722:P4ha3	UTSW	7	99,955,198 (GRCm39)	missense	probably benign	0.03
R6209:P4ha3	UTSW	7	99,966,292 (GRCm39)	missense	probably benign	0.09
R6462:P4ha3	UTSW	7	99,963,873 (GRCm39)	missense	probably damaging	1.00
R6606:P4ha3	UTSW	7	99,954,851 (GRCm39)	missense	probably damaging	0.99
R7769:P4ha3	UTSW	7	99,934,924 (GRCm39)	missense	probably damaging	0.97
R8031:P4ha3	UTSW	7	99,941,905 (GRCm39)	missense	probably damaging	1.00
R8090:P4ha3	UTSW	7	99,949,859 (GRCm39)	missense	probably damaging	0.97
R8296:P4ha3	UTSW	7	99,966,309 (GRCm39)	missense	probably damaging	1.00
R8379:P4ha3	UTSW	7	99,942,986 (GRCm39)	missense	probably damaging	0.99
R8501:P4ha3	UTSW	7	99,962,562 (GRCm39)	missense	probably damaging	1.00
R8516:P4ha3	UTSW	7	99,963,869 (GRCm39)	missense	probably damaging	0.97
R8692:P4ha3	UTSW	7	99,955,228 (GRCm39)	missense	probably damaging	0.99
RF033:P4ha3	UTSW	7	99,960,017 (GRCm39)	frame shift	probably null
Z1177:P4ha3	UTSW	7	99,942,995 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CCCATTGCCTGTGTTTGGAG -3'
(R):5'- CTTTGCAATGCAGTCTTAGTGATC -3'

Sequencing Primer
(F):5'- AGGCGAGGGTCACAGTCTTTC -3'
(R):5'- AATGCAGTCTTAGTGATCTACCCTG -3'

Posted On

2019-10-24