Incidental Mutation 'R1874:P4hb'
ID 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 11
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

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

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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2014-06-30