Incidental Mutation 'R1773:P4hb'
ID 196839
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 039804-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R1773 (G1)
Quality Score 136
Status Not validated
Chromosome 11
Chromosomal Location 120560298-120573253 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120572726 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 28 (V28F)
Ref Sequence ENSEMBL: ENSMUSP00000128796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026122] [ENSMUST00000168360]
AlphaFold P09103
Predicted Effect probably damaging
Transcript: ENSMUST00000026122
AA Change: V28F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: V28F

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 damaging
Transcript: ENSMUST00000168360
AA Change: V28F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128796
Gene: ENSMUSG00000025130
AA Change: V28F

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,580,595 (GRCm38) K334E probably damaging Het
Abca12 A G 1: 71,288,596 (GRCm38) Y1442H probably damaging Het
Acot12 A G 13: 91,757,557 (GRCm38) T79A probably benign Het
Adipoq A C 16: 23,155,238 (GRCm38) Q26P unknown Het
Afg2a T C 3: 37,439,185 (GRCm38) F515L probably damaging Het
Akap13 T A 7: 75,683,451 (GRCm38) N1582K possibly damaging Het
Alg9 A G 9: 50,779,096 (GRCm38) T133A probably benign Het
Anks3 T C 16: 4,947,294 (GRCm38) T418A probably benign Het
Ano3 A C 2: 110,761,455 (GRCm38) L37R probably damaging Het
Ano9 A G 7: 141,108,378 (GRCm38) F178L possibly damaging Het
Arhgef12 A G 9: 43,005,542 (GRCm38) probably null Het
Arl16 T A 11: 120,465,763 (GRCm38) I137F possibly damaging Het
Brpf1 T A 6: 113,319,931 (GRCm38) S959T possibly damaging Het
Ccdc27 C T 4: 154,041,765 (GRCm38) R89Q unknown Het
Cd109 A C 9: 78,703,724 (GRCm38) Q1207H probably benign Het
Cd14 A T 18: 36,725,304 (GRCm38) V366D possibly damaging Het
Cep290 G A 10: 100,510,573 (GRCm38) V538I probably benign Het
Cep57 G A 9: 13,816,068 (GRCm38) A202V probably damaging Het
Chl1 T C 6: 103,647,331 (GRCm38) probably null Het
Cmah T G 13: 24,417,299 (GRCm38) F29L probably benign Het
Cracd G T 5: 76,867,205 (GRCm38) A42S possibly damaging Het
Crybg1 A G 10: 43,992,548 (GRCm38) V1378A possibly damaging Het
Cryzl2 A G 1: 157,470,722 (GRCm38) K227R probably benign Het
D130043K22Rik T G 13: 24,882,602 (GRCm38) V794G possibly damaging Het
Ddx4 T A 13: 112,599,902 (GRCm38) T645S probably benign Het
Dhcr7 C T 7: 143,847,458 (GRCm38) R453C possibly damaging Het
Dhx8 T C 11: 101,752,363 (GRCm38) Y754H possibly damaging Het
Dip2b T A 15: 100,193,961 (GRCm38) D860E probably benign Het
Dnah7a T C 1: 53,432,887 (GRCm38) probably null Het
Dst A G 1: 34,291,899 (GRCm38) D6937G probably damaging Het
Dusp1 A G 17: 26,507,107 (GRCm38) I204T probably damaging Het
Dync2h1 T A 9: 7,128,256 (GRCm38) Q1859L probably damaging Het
E4f1 C A 17: 24,446,584 (GRCm38) G328V probably damaging Het
Eml5 T C 12: 98,798,839 (GRCm38) Y1617C probably damaging Het
Espn G T 4: 152,128,229 (GRCm38) P622Q probably damaging Het
Fam184b G A 5: 45,584,334 (GRCm38) P185L possibly damaging Het
Fn1 T A 1: 71,637,383 (GRCm38) D563V probably damaging Het
Gad2 A G 2: 22,690,207 (GRCm38) Y540C probably benign Het
Garin1b T C 6: 29,334,153 (GRCm38) S335P possibly damaging Het
Gdf11 T C 10: 128,891,294 (GRCm38) D131G probably damaging Het
Gm19965 T A 1: 116,821,259 (GRCm38) Y223* probably null Het
H2-M10.6 A G 17: 36,812,184 (GRCm38) K3R probably benign Het
Hid1 A G 11: 115,348,510 (GRCm38) Y776H probably damaging Het
Hivep3 A T 4: 120,098,837 (GRCm38) K1450I probably damaging Het
Icam5 T C 9: 21,033,525 (GRCm38) L128P possibly damaging Het
Idnk T C 13: 58,157,712 (GRCm38) V9A probably damaging Het
Il4ra A T 7: 125,567,182 (GRCm38) T33S possibly damaging Het
Ino80 A G 2: 119,418,409 (GRCm38) V990A probably benign Het
Krtap4-9 T C 11: 99,785,570 (GRCm38) probably benign Het
Lrrk2 A G 15: 91,779,981 (GRCm38) I1974V possibly damaging Het
Mcm3ap C T 10: 76,471,160 (GRCm38) A369V probably benign Het
Nek6 A G 2: 38,582,419 (GRCm38) M252V probably benign Het
Nfasc T A 1: 132,610,839 (GRCm38) I443F probably damaging Het
Nme8 T G 13: 19,697,036 (GRCm38) M1L probably damaging Het
Npnt T A 3: 132,904,693 (GRCm38) Q423L possibly damaging Het
Nup133 A T 8: 123,930,983 (GRCm38) C404* probably null Het
Or2b7 T C 13: 21,555,812 (GRCm38) D70G probably damaging Het
Or4c124 A G 2: 89,325,742 (GRCm38) V146A probably benign Het
Or4f14b A G 2: 111,944,859 (GRCm38) V199A possibly damaging Het
Or56a4 T C 7: 105,156,983 (GRCm38) E233G probably benign Het
Or5an1c T C 19: 12,241,659 (GRCm38) M1V probably null Het
Or6c213 A G 10: 129,738,443 (GRCm38) L158S probably damaging Het
Otog T A 7: 46,288,159 (GRCm38) I1764N probably benign Het
Oxa1l A G 14: 54,363,452 (GRCm38) I127M probably benign Het
Pbld2 C T 10: 63,054,371 (GRCm38) A186V probably benign Het
Pdzph1 G T 17: 58,974,813 (GRCm38) T158K probably damaging Het
Pgm1 T A 5: 64,107,851 (GRCm38) probably null Het
Phip A T 9: 82,876,189 (GRCm38) S1484T probably benign Het
Pikfyve T C 1: 65,246,370 (GRCm38) S923P probably benign Het
Pikfyve T C 1: 65,192,271 (GRCm38) L100P probably damaging Het
Pla2g4e A G 2: 120,244,721 (GRCm38) S63P probably benign Het
Plekhh2 A G 17: 84,599,265 (GRCm38) E1176G probably damaging Het
Prlr T A 15: 10,325,318 (GRCm38) Y192* probably null Het
Pten T A 19: 32,798,072 (GRCm38) C71S probably damaging Het
Rbbp8nl A G 2: 180,281,194 (GRCm38) L202P probably benign Het
Ripor2 T A 13: 24,701,254 (GRCm38) S491T probably benign Het
Robo1 A T 16: 73,004,511 (GRCm38) I1008F probably benign Het
Scg2 T C 1: 79,435,635 (GRCm38) N417S probably benign Het
Scn8a A G 15: 101,039,615 (GRCm38) I1581V probably damaging Het
Slc22a8 T A 19: 8,594,229 (GRCm38) I108N probably damaging Het
Slc9a8 A T 2: 167,471,465 (GRCm38) T416S possibly damaging Het
Spata32 T A 11: 103,208,818 (GRCm38) E287V probably damaging Het
Tgfbrap1 C T 1: 43,075,352 (GRCm38) G196D probably damaging Het
Tgm5 G T 2: 121,077,650 (GRCm38) T15K possibly damaging Het
Tmc1 C T 19: 20,826,501 (GRCm38) probably null Het
Tmem177 T C 1: 119,910,576 (GRCm38) I124M possibly damaging Het
Trim30a A G 7: 104,435,901 (GRCm38) F34S probably damaging Het
Tsn T C 1: 118,305,239 (GRCm38) T112A probably benign Het
Tspyl5 T G 15: 33,686,776 (GRCm38) N341T probably benign Het
Vmn2r108 C T 17: 20,469,073 (GRCm38) C540Y probably damaging Het
Vrtn C T 12: 84,650,224 (GRCm38) R583W probably damaging Het
Wnt1 T C 15: 98,791,757 (GRCm38) S142P probably damaging Het
Wrn A T 8: 33,343,561 (GRCm38) I108N probably damaging Het
Zfhx2 A C 14: 55,072,891 (GRCm38) C733G possibly damaging Het
Zfp219 T C 14: 52,007,106 (GRCm38) T539A probably damaging Het
Zswim8 T A 14: 20,711,530 (GRCm38) M177K probably damaging 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
R1856:P4hb UTSW 11 120,563,218 (GRCm38) missense probably benign 0.23
R1874:P4hb UTSW 11 120,562,166 (GRCm38) missense probably benign
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 2014-05-23