Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:P4hb'

211073

Institutional Source

Beutler Lab

Gene Symbol

P4hb

Ensembl Gene

ENSMUSG00000025130

Gene Name

prolyl 4-hydroxylase, beta polypeptide

Synonyms

Thbp, protein disulfide isomerase, ERp59, PDI, Pdia1

MMRRC Submission

039896-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.422) question?

Stock #

R1874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120560298-120573253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120562166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 483 (D483N)

Ref Sequence

ENSEMBL: ENSMUSP00000026122 (fasta)

Gene Model

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

AlphaFold

P09103

Predicted Effect

probably benign
Transcript: ENSMUST00000026122
AA Change: D483N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: D483N

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

noncoding transcript
Transcript: ENSMUST00000166620

Predicted Effect

unknown
Transcript: ENSMUST00000168360
AA Change: D139N

SMART Domains

Protein: ENSMUSP00000128796
Gene: ENSMUSG00000025130
AA Change: D139N

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

0.0881

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,742,691 (GRCm38)	S217G	probably benign	Het
Adrb3	C	A	8: 27,227,563 (GRCm38)	R286L	probably damaging	Het
Akap11	T	A	14: 78,511,866 (GRCm38)	D1027V	probably benign	Het
Ank3	A	T	10: 69,898,083 (GRCm38)	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,165,931 (GRCm38)	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,556 (GRCm38)	D432G	probably damaging	Het
Ano3	A	C	2: 110,884,872 (GRCm38)	S74A	probably benign	Het
B4galnt4	T	A	7: 141,070,526 (GRCm38)	S769T	probably damaging	Het
Bicral	T	A	17: 46,825,178 (GRCm38)	T369S	probably benign	Het
Blm	A	G	7: 80,497,418 (GRCm38)	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,925,840 (GRCm38)	T278A	probably benign	Het
Bpifb5	A	G	2: 154,227,202 (GRCm38)		probably benign	Het
Brd8	G	C	18: 34,610,474 (GRCm38)	P266R	probably damaging	Het
Btaf1	A	T	19: 36,980,583 (GRCm38)	M587L	probably benign	Het
Casz1	C	G	4: 148,943,211 (GRCm38)	T1015S	probably damaging	Het
Cdh23	A	G	10: 60,436,818 (GRCm38)	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,835,838 (GRCm38)	V1825A	probably benign	Het
Cenpf	A	G	1: 189,683,816 (GRCm38)	L104P	probably damaging	Het
Clasp1	G	T	1: 118,600,585 (GRCm38)		probably null	Het
Coprs	A	G	8: 13,885,112 (GRCm38)	W148R	probably damaging	Het
Cpne1	A	G	2: 156,078,382 (GRCm38)	S168P	probably damaging	Het
Cpxm2	T	C	7: 132,059,834 (GRCm38)	Y408C	probably damaging	Het
Ctnna3	A	G	10: 63,504,107 (GRCm38)	E24G	possibly damaging	Het
Cubn	T	A	2: 13,323,002 (GRCm38)	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,483,324 (GRCm38)	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,660,595 (GRCm38)	R34L	probably benign	Het
Dnajc7	C	T	11: 100,599,313 (GRCm38)		probably benign	Het
Eml6	T	G	11: 29,831,136 (GRCm38)	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,886,223 (GRCm38)	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,385,111 (GRCm38)	C212*	probably null	Het
Ffar2	A	G	7: 30,819,414 (GRCm38)		probably null	Het
Fga	A	T	3: 83,032,721 (GRCm38)	T561S	probably damaging	Het
Fry	A	G	5: 150,345,921 (GRCm38)	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,998,231 (GRCm38)	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,706,021 (GRCm38)	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,723,515 (GRCm38)	V12I	possibly damaging	Het
Gli2	C	A	1: 119,002,049 (GRCm38)	A43S	possibly damaging	Het
Gm15446	T	C	5: 109,942,553 (GRCm38)	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824 (GRCm38)	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,586,156 (GRCm38)		probably benign	Het
Grk6	T	C	13: 55,450,273 (GRCm38)	Y53H	probably damaging	Het
Hcar1	C	T	5: 123,879,265 (GRCm38)	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,720,695 (GRCm38)	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,955,993 (GRCm38)	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,289,853 (GRCm38)		probably null	Het
Kif1b	C	T	4: 149,187,632 (GRCm38)	V1571I	probably benign	Het
Lpl	T	A	8: 68,896,619 (GRCm38)	C266S	probably damaging	Het
Mag	G	A	7: 30,909,051 (GRCm38)	H213Y	probably benign	Het
Mansc4	T	G	6: 147,075,190 (GRCm38)	R309S	probably benign	Het
Mlh3	A	G	12: 85,237,513 (GRCm38)		probably null	Het
Mndal	G	A	1: 173,860,367 (GRCm38)		probably benign	Het
Mrgpra2b	T	A	7: 47,463,994 (GRCm38)	E330V	probably damaging	Het
Myh3	A	G	11: 67,093,179 (GRCm38)	I990V	probably benign	Het
Myoz2	A	T	3: 123,026,116 (GRCm38)	S65T	probably damaging	Het
Naa16	T	C	14: 79,355,743 (GRCm38)	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,797,844 (GRCm38)	F684S	probably damaging	Het
Notch1	T	C	2: 26,481,579 (GRCm38)	E286G	possibly damaging	Het
Nynrin	A	T	14: 55,863,493 (GRCm38)	I247L	probably benign	Het
Olfr136	C	T	17: 38,335,969 (GRCm38)	P271S	probably damaging	Het
Olfr644	T	C	7: 104,068,129 (GRCm38)	I301V	probably null	Het
Olfr981	T	A	9: 40,022,855 (GRCm38)	I154N	possibly damaging	Het
Oprm1	A	G	10: 6,789,035 (GRCm38)	H54R	probably benign	Het
Pak1	T	C	7: 97,871,580 (GRCm38)	S149P	probably benign	Het
Pars2	T	C	4: 106,653,716 (GRCm38)	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,620,945 (GRCm38)	M88V	possibly damaging	Het
Pms1	A	T	1: 53,207,233 (GRCm38)	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,763,389 (GRCm38)	V189L	probably benign	Het
Pole	G	A	5: 110,323,664 (GRCm38)	V1425M	possibly damaging	Het
Pot1b	T	A	17: 55,654,805 (GRCm38)	Q591L	probably benign	Het
Ppp1r9a	C	T	6: 4,906,348 (GRCm38)	T301M	possibly damaging	Het
Psg21	T	C	7: 18,650,816 (GRCm38)	E335G	probably benign	Het
Ptpru	T	A	4: 131,769,755 (GRCm38)	M1416L	probably benign	Het
Pxn	T	C	5: 115,544,990 (GRCm38)	V117A	probably damaging	Het
Qsox1	C	T	1: 155,812,639 (GRCm38)	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,006 (GRCm38)	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145 (GRCm38)	Y23C	probably benign	Het
Sdk2	C	T	11: 113,834,956 (GRCm38)	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,319,699 (GRCm38)	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,197,963 (GRCm38)		probably null	Het
Sirt5	C	T	13: 43,370,791 (GRCm38)	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,001,398 (GRCm38)		probably benign	Het
Slx4	A	G	16: 3,986,848 (GRCm38)	S701P	probably benign	Het
Snx29	A	G	16: 11,367,681 (GRCm38)	T43A	probably benign	Het
Speg	T	C	1: 75,423,906 (GRCm38)	V2570A	probably benign	Het
Srrm4	T	A	5: 116,453,506 (GRCm38)		probably benign	Het
Stk32a	A	G	18: 43,261,316 (GRCm38)	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,916,110 (GRCm38)	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,435 (GRCm38)	I150N	possibly damaging	Het
Tjp1	A	T	7: 65,319,253 (GRCm38)	D699E	probably damaging	Het
Tmem143	A	G	7: 45,916,564 (GRCm38)	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 57,047,084 (GRCm38)	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,429,087 (GRCm38)	T7S	probably damaging	Het
Ube4b	A	G	4: 149,347,971 (GRCm38)	L832P	probably damaging	Het
Ugp2	G	T	11: 21,329,048 (GRCm38)	F379L	probably damaging	Het
Ugt3a2	A	T	15: 9,365,351 (GRCm38)	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,802,418 (GRCm38)	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,017,112 (GRCm38)	P14R	probably benign	Het
Vwc2	C	A	11: 11,261,495 (GRCm38)	T317K	probably damaging	Het
Vwf	A	T	6: 125,628,372 (GRCm38)	Q906L	probably benign	Het
Wdr49	A	G	3: 75,429,347 (GRCm38)	V351A	probably damaging	Het
Wdr7	A	G	18: 63,728,504 (GRCm38)	S196G	probably benign	Het
Xkr6	C	A	14: 63,798,296 (GRCm38)	A26E	unknown	Het
Zcchc11	T	A	4: 108,550,725 (GRCm38)	V1397D	probably damaging	Het
Zfp955b	T	C	17: 33,305,453 (GRCm38)	I47V	probably benign	Het

Other mutations in P4hb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:P4hb	APN	11	120,563,818 (GRCm38)	missense	probably benign	0.00
R0042:P4hb	UTSW	11	120,568,266 (GRCm38)	missense	probably damaging	1.00
R0042:P4hb	UTSW	11	120,568,266 (GRCm38)	missense	probably damaging	1.00
R0362:P4hb	UTSW	11	120,563,336 (GRCm38)	missense	probably benign	0.04
R0597:P4hb	UTSW	11	120,568,244 (GRCm38)	missense	possibly damaging	0.53
R1458:P4hb	UTSW	11	120,562,555 (GRCm38)	splice site	probably benign
R1635:P4hb	UTSW	11	120,571,616 (GRCm38)	missense	probably damaging	0.97
R1750:P4hb	UTSW	11	120,562,720 (GRCm38)	missense	probably damaging	0.99
R1773:P4hb	UTSW	11	120,572,726 (GRCm38)	missense	probably damaging	1.00
R1856:P4hb	UTSW	11	120,563,218 (GRCm38)	missense	probably benign	0.23
R2014:P4hb	UTSW	11	120,562,696 (GRCm38)	missense	probably damaging	0.98
R2239:P4hb	UTSW	11	120,563,282 (GRCm38)	missense	probably damaging	1.00
R2331:P4hb	UTSW	11	120,568,280 (GRCm38)	missense	probably benign	0.00
R3935:P4hb	UTSW	11	120,562,409 (GRCm38)	missense	probably benign	0.20
R3936:P4hb	UTSW	11	120,562,409 (GRCm38)	missense	probably benign	0.20
R5601:P4hb	UTSW	11	120,571,615 (GRCm38)	missense	possibly damaging	0.90
R5893:P4hb	UTSW	11	120,571,650 (GRCm38)	missense	probably damaging	1.00
R6533:P4hb	UTSW	11	120,571,643 (GRCm38)	missense	probably damaging	1.00
R8243:P4hb	UTSW	11	120,563,380 (GRCm38)	missense	probably benign	0.03
R8940:P4hb	UTSW	11	120,568,002 (GRCm38)	missense	probably benign	0.23
R9480:P4hb	UTSW	11	120,572,725 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGGCACCTTTAACATCCCTG -3'
(R):5'- AGTTCTTCCCAGCAAGTGCAG -3'

Sequencing Primer
(F):5'- AACATCCCTGCTGTCTAAGTGGTAAC -3'
(R):5'- CAGACAGAACGGTGTGTTTTCCAC -3'

Posted On

2014-06-30