Mutagenetix > Incidental Mutation

Incidental Mutation 'R8296:P4ha3'

638940

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

067785-MU

Accession Numbers

Essential gene?

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

Stock #

R8296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99934727-99968906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99966309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 485 (V485M)

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: V485M

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

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: V485M

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: V330M

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

Meta Mutation Damage Score

0.1207

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,415,896 (GRCm39)	L663Q	probably damaging	Het
2610008E11Rik	C	G	10: 78,903,568 (GRCm39)	R249S	probably benign	Het
6030469F06Rik	A	G	12: 31,235,058 (GRCm39)	N146S	noncoding transcript	Het
Abcb5	G	A	12: 118,838,467 (GRCm39)	P1032S	probably benign	Het
Acvr2a	A	T	2: 48,789,736 (GRCm39)	D493V	possibly damaging	Het
Amacr	A	G	15: 10,995,004 (GRCm39)	D272G	probably benign	Het
Bach1	A	C	16: 87,526,467 (GRCm39)	K643T	probably damaging	Het
Bmt2	T	C	6: 13,628,672 (GRCm39)	Y337C	probably damaging	Het
Bsn	A	G	9: 107,994,578 (GRCm39)	S566P	probably benign	Het
Cass4	A	C	2: 172,269,094 (GRCm39)	D392A	probably benign	Het
Cbx2	A	G	11: 118,918,954 (GRCm39)	E173G	probably damaging	Het
Ccdc166	G	C	15: 75,852,860 (GRCm39)	A369G	probably benign	Het
Ccdc77	G	A	6: 120,308,870 (GRCm39)	T315M	possibly damaging	Het
Ceacam10	C	A	7: 24,480,513 (GRCm39)	H215N	unknown	Het
Ces1e	C	T	8: 93,929,947 (GRCm39)	M445I	probably benign	Het
Ces2b	T	G	8: 105,563,112 (GRCm39)	V350G	possibly damaging	Het
Chtf18	A	G	17: 25,941,165 (GRCm39)	L611P	probably benign	Het
Col9a1	C	A	1: 24,217,380 (GRCm39)	P19T	unknown	Het
Csf1r	A	T	18: 61,250,750 (GRCm39)	N487I	probably damaging	Het
Csl	A	T	10: 99,594,161 (GRCm39)	H301Q	probably damaging	Het
Cyp24a1	G	A	2: 170,332,036 (GRCm39)	T330M	probably damaging	Het
Ddb2	T	C	2: 91,042,645 (GRCm39)	D405G	probably damaging	Het
Degs1	A	G	1: 182,110,241 (GRCm39)	F10L	probably benign	Het
Dhrs2	T	A	14: 55,477,928 (GRCm39)	I220N	probably damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Dpy19l1	A	G	9: 24,414,372 (GRCm39)	S19P	probably benign	Het
Eif3l	A	C	15: 78,963,220 (GRCm39)	E134A	possibly damaging	Het
Epb41	C	A	4: 131,664,772 (GRCm39)	V90L		Het
Flad1	A	T	3: 89,316,109 (GRCm39)	V151D	probably damaging	Het
Gja10	A	T	4: 32,601,568 (GRCm39)	I272N	probably benign	Het
Glmp	T	A	3: 88,233,580 (GRCm39)	D178E	probably benign	Het
Gm16494	G	A	17: 47,327,750 (GRCm39)	P45S	probably damaging	Het
Gm4553	T	C	7: 141,719,458 (GRCm39)	D6G	unknown	Het
Grid2	G	A	6: 63,233,929 (GRCm39)		probably null	Het
Icmt	A	G	4: 152,387,482 (GRCm39)	M226V	probably benign	Het
Igkv5-39	T	C	6: 69,877,607 (GRCm39)	S50G	probably benign	Het
Ints5	T	C	19: 8,872,484 (GRCm39)	S148P	probably damaging	Het
Itga2b	A	C	11: 102,351,985 (GRCm39)	V504G	possibly damaging	Het
Krt20	T	A	11: 99,323,063 (GRCm39)	Y253F	probably damaging	Het
Man2a2	T	A	7: 80,018,656 (GRCm39)	I68L	probably damaging	Het
Mpi	G	A	9: 57,455,954 (GRCm39)	T176I	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myot	C	T	18: 44,475,416 (GRCm39)	T179I	probably damaging	Het
Neb	A	G	2: 52,116,601 (GRCm39)	S946P		Het
Notch3	G	A	17: 32,341,713 (GRCm39)	A2013V	probably damaging	Het
Nr1d1	T	C	11: 98,662,133 (GRCm39)	Y167C	probably damaging	Het
Or52h7	T	A	7: 104,213,593 (GRCm39)	F55Y	probably benign	Het
Or52n2c	T	C	7: 104,574,828 (GRCm39)	I48V	probably benign	Het
Or7g32	A	G	9: 19,408,377 (GRCm39)	E111G	probably damaging	Het
Or8k40	A	C	2: 86,584,893 (GRCm39)	L63R	probably damaging	Het
Pbk	T	A	14: 66,054,185 (GRCm39)	C243*	probably null	Het
Pde4b	T	A	4: 102,459,983 (GRCm39)	L388H	possibly damaging	Het
Pecam1	T	C	11: 106,579,745 (GRCm39)	D439G	probably benign	Het
Pknox2	A	T	9: 36,822,459 (GRCm39)	M230K	probably benign	Het
Plekhh2	A	G	17: 84,908,113 (GRCm39)	I1185V	probably damaging	Het
Polr3g	A	G	13: 81,842,682 (GRCm39)	V111A	unknown	Het
Prkcg	G	C	7: 3,377,580 (GRCm39)	E562D	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf123	A	T	9: 107,940,089 (GRCm39)	V768D	probably damaging	Het
Rps16	T	A	7: 28,052,008 (GRCm39)	S129T	probably benign	Het
Scg2	A	T	1: 79,413,222 (GRCm39)	N460K	probably benign	Het
Sct	T	C	7: 140,858,807 (GRCm39)	S42G	probably damaging	Het
Spef2	A	T	15: 9,727,629 (GRCm39)	N151K	probably benign	Het
Syce1l	C	A	8: 114,380,721 (GRCm39)	D144E	possibly damaging	Het
Syt17	T	C	7: 118,036,069 (GRCm39)	Y99C	probably damaging	Het
Tgfbr3	T	C	5: 107,287,640 (GRCm39)	N520D	probably damaging	Het
Thsd7b	A	G	1: 129,523,193 (GRCm39)	S76G	probably benign	Het
Tmem63a	G	T	1: 180,788,685 (GRCm39)	V341F	probably benign	Het
Trim5	A	G	7: 103,914,993 (GRCm39)	S359P	probably damaging	Het
Tst	A	T	15: 78,284,020 (GRCm39)	V269E	probably damaging	Het
Ubr3	A	T	2: 69,784,706 (GRCm39)	I808F	probably null	Het
Ugt3a1	T	A	15: 9,362,024 (GRCm39)	Y267N	probably benign	Het
Wwc1	A	T	11: 35,761,384 (GRCm39)		probably benign	Het
Zfp36l2	G	T	17: 84,494,552 (GRCm39)	N28K	probably damaging	Het
Zfp57	A	G	17: 37,321,136 (GRCm39)	D330G	probably benign	Het
Zgrf1	C	A	3: 127,377,644 (GRCm39)	S963Y	probably damaging	Het
Zranb2	A	G	3: 157,247,412 (GRCm39)	K197E	unknown	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
R7578:P4ha3	UTSW	7	99,943,121 (GRCm39)	missense	probably benign	0.02
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
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'- ATCTCCCGTAGCTGACACAG -3'
(R):5'- AAGGGGACTCAGAGGTCTTAC -3'

Sequencing Primer
(F):5'- TAGCTGACACAGGGGAGCC -3'
(R):5'- TCTTACCTCTGAGGGACCCACAG -3'

Posted On

2020-07-28