Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:P4hb'

63256

Institutional Source

Beutler Lab

Gene Symbol

P4hb

Ensembl Gene

ENSMUSG00000025130

Gene Name

prolyl 4-hydroxylase, beta polypeptide

Synonyms

Pdia1, Thbp, ERp59, PDI, protein disulfide isomerase

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120451124-120464079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120459092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 134 (R134C)

Ref Sequence

ENSEMBL: ENSMUSP00000026122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026122] [ENSMUST00000168360]

AlphaFold

P09103

Predicted Effect

probably damaging
Transcript: ENSMUST00000026122
AA Change: R134C

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

SMART Domains

Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: R134C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Thioredoxin	27	134	4.9e-37	PFAM
Pfam:Thioredoxin_2	39	126	3.5e-9	PFAM
Pfam:Thioredoxin_6	163	347	8.3e-44	PFAM
Pfam:Thioredoxin	370	475	1.5e-30	PFAM
low complexity region	478	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168360

SMART Domains

Protein: ENSMUSP00000128796
Gene: ENSMUSG00000025130

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Thioredoxin	27	131	6e-32	PFAM
low complexity region	134	157	N/A	INTRINSIC

Meta Mutation Damage Score

0.4211

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele and conditional allele activated in immune cells exhibit impaired neutrophil recruitment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Acr	T	A	15: 89,458,535 (GRCm39)	H405Q	probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atl3	T	G	19: 7,506,388 (GRCm39)	I306S	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Dym	T	C	18: 75,258,610 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
Or8h7	A	G	2: 86,720,835 (GRCm39)	I228T	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rdh10	T	C	1: 16,178,260 (GRCm39)		probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	probably benign	Het

Other mutations in P4hb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:P4hb	APN	11	120,454,644 (GRCm39)	missense	probably benign	0.00
R0042:P4hb	UTSW	11	120,459,092 (GRCm39)	missense	probably damaging	1.00
R0362:P4hb	UTSW	11	120,454,162 (GRCm39)	missense	probably benign	0.04
R0597:P4hb	UTSW	11	120,459,070 (GRCm39)	missense	possibly damaging	0.53
R1458:P4hb	UTSW	11	120,453,381 (GRCm39)	splice site	probably benign
R1635:P4hb	UTSW	11	120,462,442 (GRCm39)	missense	probably damaging	0.97
R1750:P4hb	UTSW	11	120,453,546 (GRCm39)	missense	probably damaging	0.99
R1773:P4hb	UTSW	11	120,463,552 (GRCm39)	missense	probably damaging	1.00
R1856:P4hb	UTSW	11	120,454,044 (GRCm39)	missense	probably benign	0.23
R1874:P4hb	UTSW	11	120,452,992 (GRCm39)	missense	probably benign
R2014:P4hb	UTSW	11	120,453,522 (GRCm39)	missense	probably damaging	0.98
R2239:P4hb	UTSW	11	120,454,108 (GRCm39)	missense	probably damaging	1.00
R2331:P4hb	UTSW	11	120,459,106 (GRCm39)	missense	probably benign	0.00
R3935:P4hb	UTSW	11	120,453,235 (GRCm39)	missense	probably benign	0.20
R3936:P4hb	UTSW	11	120,453,235 (GRCm39)	missense	probably benign	0.20
R5601:P4hb	UTSW	11	120,462,441 (GRCm39)	missense	possibly damaging	0.90
R5893:P4hb	UTSW	11	120,462,476 (GRCm39)	missense	probably damaging	1.00
R6533:P4hb	UTSW	11	120,462,469 (GRCm39)	missense	probably damaging	1.00
R8243:P4hb	UTSW	11	120,454,206 (GRCm39)	missense	probably benign	0.03
R8940:P4hb	UTSW	11	120,458,828 (GRCm39)	missense	probably benign	0.23
R9480:P4hb	UTSW	11	120,463,551 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTCATCAATAGCCTCTGCTGCC -3'
(R):5'- TGAGTACCACGGTGTCCTCTTCTG -3'

Sequencing Primer
(F):5'- AACTGCTTGGCAGAGTCTGAC -3'
(R):5'- AGGCTGTAGCCAGTTCTCTA -3'

Posted On

2013-07-30