Mutagenetix > Incidental Mutation

Incidental Mutation 'R5601:P4hb'

439036

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

043153-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

R5601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120451124-120464079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120462441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 88 (E88D)

Ref Sequence

ENSEMBL: ENSMUSP00000026122 (fasta)

Gene Model

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

AlphaFold

P09103

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026122
AA Change: E88D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: E88D

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,931,029 (GRCm39)	V426I	probably benign	Het
Asmt	T	C	X: 169,110,127 (GRCm39)	V212A	probably damaging	Het
Atn1	A	G	6: 124,720,191 (GRCm39)		probably null	Het
Auts2	G	T	5: 131,505,662 (GRCm39)		probably benign	Het
AW551984	C	T	9: 39,502,563 (GRCm39)	V672M	possibly damaging	Het
Bltp3a	C	A	17: 28,103,468 (GRCm39)	A392D	probably damaging	Het
Ccdc13	G	A	9: 121,629,638 (GRCm39)	Q114*	probably null	Het
Ces2e	A	T	8: 105,656,126 (GRCm39)	I146F	probably benign	Het
Cfap44	A	G	16: 44,280,549 (GRCm39)	K1443E	probably damaging	Het
Cma2	T	A	14: 56,211,246 (GRCm39)	H179Q	possibly damaging	Het
Cpsf2	G	T	12: 101,951,614 (GRCm39)		probably null	Het
Cwh43	A	G	5: 73,575,283 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dram1	A	G	10: 88,160,629 (GRCm39)	S231P	probably damaging	Het
Fbxw7	A	G	3: 84,883,515 (GRCm39)	D482G	probably damaging	Het
Fstl1	T	C	16: 37,647,161 (GRCm39)	I177T	probably benign	Het
Fut9	T	C	4: 25,620,299 (GRCm39)	T172A	probably benign	Het
Gm5134	G	A	10: 75,821,786 (GRCm39)	V207M	probably damaging	Het
Hccs	G	A	X: 168,096,597 (GRCm39)	R203C	probably damaging	Het
Hmgxb3	A	T	18: 61,270,694 (GRCm39)	F877I	probably damaging	Het
Ide	A	G	19: 37,292,379 (GRCm39)	V272A	unknown	Het
Impact	C	T	18: 13,109,064 (GRCm39)	T65I	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Muc17	A	G	5: 137,166,863 (GRCm39)	S309P	probably damaging	Het
Myf6	A	C	10: 107,330,475 (GRCm39)	S31A	probably damaging	Het
Or4n4b	C	A	14: 50,536,318 (GRCm39)	W149C	probably damaging	Het
Or8b35	C	G	9: 37,904,010 (GRCm39)	T74R	possibly damaging	Het
Pcdhb9	T	C	18: 37,535,259 (GRCm39)	C418R	probably damaging	Het
Pramel51	T	C	12: 88,142,817 (GRCm39)	D267G	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prss58	A	T	6: 40,874,783 (GRCm39)	N19K	possibly damaging	Het
Ptprq	C	T	10: 107,444,291 (GRCm39)	A1438T	probably benign	Het
Rfx4	A	T	10: 84,634,442 (GRCm39)	T61S	probably damaging	Het
Sclt1	T	A	3: 41,685,354 (GRCm39)	N35Y	probably benign	Het
Sec24b	CTG	CTGGTG	3: 129,834,483 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,881,427 (GRCm39)	I188T	probably damaging	Het
Slc27a4	A	T	2: 29,695,672 (GRCm39)	Y69F	probably benign	Het
Slc3a1	T	C	17: 85,340,319 (GRCm39)	V247A	probably benign	Het
Slc4a2	C	T	5: 24,643,772 (GRCm39)	T854I	probably benign	Het
Stat5b	G	A	11: 100,674,001 (GRCm39)	T761M	probably damaging	Het
Stkld1	T	C	2: 26,842,717 (GRCm39)	L563P	probably damaging	Het
Tbc1d23	C	A	16: 57,018,672 (GRCm39)	C283F	probably benign	Het
Tcaf3	T	C	6: 42,564,462 (GRCm39)	N900S	possibly damaging	Het
Tkfc	T	C	19: 10,571,927 (GRCm39)	T370A	probably benign	Het
Tpr	T	C	1: 150,311,604 (GRCm39)	V1868A	possibly damaging	Het
Triobp	T	A	15: 78,857,833 (GRCm39)	W1145R	probably damaging	Het
Vmn2r82	T	G	10: 79,232,025 (GRCm39)	L675V	probably damaging	Het
Zfp423	T	C	8: 88,508,637 (GRCm39)	E444G	probably damaging	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
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
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'- ACTTGAGAACAGGGCCTCTC -3'
(R):5'- TCTCTTGACTGCATTAAGAGGGG -3'

Sequencing Primer
(F):5'- TTTGCTCCCAAAGCCTAC -3'
(R):5'- CTTGACTGCATTAAGAGGGGTTATC -3'

Posted On

2016-10-26