Incidental Mutation 'R0597:P4hb'
ID55135
Institutional Source Beutler Lab
Gene Symbol P4hb
Ensembl Gene ENSMUSG00000025130
Gene Nameprolyl 4-hydroxylase, beta polypeptide
SynonymsThbp, protein disulfide isomerase, ERp59, PDI, Pdia1
MMRRC Submission 038786-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.422) question?
Stock #R0597 (G1)
Quality Score159
Status Validated
Chromosome11
Chromosomal Location120560298-120573253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120568244 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 141 (T141I)
Ref Sequence ENSEMBL: ENSMUSP00000026122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026122] [ENSMUST00000168360]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026122
AA Change: T141I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: T141I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.0920 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,525,062 probably null Het
Anxa11 T C 14: 25,874,228 I221T probably damaging Het
Arhgap33 C G 7: 30,526,446 R565P probably damaging Het
Bmpr2 T C 1: 59,841,425 probably benign Het
Btn2a2 T A 13: 23,486,410 H51L probably benign Het
Casz1 T C 4: 148,944,394 S1099P probably benign Het
Cnot4 A G 6: 35,051,503 S393P possibly damaging Het
Cntnap5a T C 1: 116,184,461 probably benign Het
Cobl T C 11: 12,254,699 T586A probably benign Het
Crocc A G 4: 141,017,071 L1838P probably benign Het
Crocc T C 4: 141,019,913 K1528R probably benign Het
Dact2 A G 17: 14,197,041 V299A probably benign Het
Dapk1 C A 13: 60,761,384 N1270K probably benign Het
Ddx41 T C 13: 55,533,006 Y375C probably damaging Het
Dock5 T A 14: 67,784,934 probably null Het
Dyrk4 T G 6: 126,886,649 probably null Het
Eno1b T C 18: 48,047,739 I328T probably benign Het
Fam210b A G 2: 172,345,853 probably benign Het
Fbxl13 A G 5: 21,614,714 I229T probably benign Het
Fbxo39 A G 11: 72,316,921 D33G probably damaging Het
Fbxw11 A G 11: 32,720,496 E120G probably damaging Het
Fbxw2 A T 2: 34,811,020 L261Q probably damaging Het
Gm13084 G T 4: 143,812,652 N90K probably damaging Het
Gm5800 A C 14: 51,716,004 N51K probably benign Het
Gm6899 A G 11: 26,593,768 probably benign Het
Gm9745 C A 13: 8,940,766 probably benign Het
Gpx8 T C 13: 113,045,501 T133A possibly damaging Het
Grin3a C T 4: 49,665,351 V1095M probably damaging Het
Grip2 T C 6: 91,796,197 probably benign Het
Hacd4 A G 4: 88,437,520 F43L probably damaging Het
Hif1a T G 12: 73,942,275 S645R probably benign Het
Hipk3 A G 2: 104,433,637 S839P possibly damaging Het
Il16 A T 7: 83,677,975 probably benign Het
Il3ra T A 14: 14,351,166 probably null Het
Il5ra A G 6: 106,744,335 M1T probably null Het
Klra2 G A 6: 131,220,185 R251C probably benign Het
Lamc2 C T 1: 153,133,621 V813M probably benign Het
Lbr A G 1: 181,832,213 V139A probably benign Het
Lrp5 T C 19: 3,600,777 D1219G possibly damaging Het
Map3k6 C T 4: 133,245,552 P341S possibly damaging Het
Mcts2 A G 2: 152,687,689 E140G probably benign Het
Med1 T C 11: 98,169,438 M222V probably benign Het
Mef2a G T 7: 67,235,148 S406* probably null Het
Muc19 A T 15: 91,900,502 noncoding transcript Het
Nr1h2 A G 7: 44,552,260 probably benign Het
Olfr1361 C A 13: 21,659,146 R59L probably damaging Het
Olfr205 A T 16: 59,328,760 F250I probably damaging Het
Olfr682-ps1 A G 7: 105,128,218 V73A possibly damaging Het
Olfr71 A T 4: 43,706,592 probably null Het
Polr3a A G 14: 24,484,134 V101A probably benign Het
Pou4f2 A G 8: 78,435,240 S245P probably benign Het
Rnpep A G 1: 135,272,419 V266A probably damaging Het
Scly G A 1: 91,309,833 G206R probably damaging Het
Sec14l3 A T 11: 4,074,814 K254N probably damaging Het
Sgpp1 A T 12: 75,735,100 I155N probably damaging Het
Slc22a14 A G 9: 119,172,124 L468P probably damaging Het
Slc22a27 A G 19: 7,865,884 F377L probably benign Het
Slc44a3 T C 3: 121,460,070 I625V probably benign Het
Slc47a2 A T 11: 61,309,976 I373N probably damaging Het
Slfn10-ps A T 11: 83,035,653 noncoding transcript Het
Smarcd1 T A 15: 99,711,094 I383N probably damaging Het
Sort1 A G 3: 108,338,910 D401G probably damaging Het
Sprr2a3 G T 3: 92,288,590 M1I probably null Het
Sycp2 A C 2: 178,356,580 V1049G possibly damaging Het
Tecrl T A 5: 83,354,928 K10* probably null Het
Tnpo3 A T 6: 29,578,565 C303* probably null Het
Vmn2r23 A G 6: 123,729,721 I503M probably benign Het
Zbtb8os T A 4: 129,346,877 I164N probably damaging Het
Zfp292 T C 4: 34,807,399 N1882D probably benign Het
Zfp91 T C 19: 12,770,095 I555V possibly damaging Het
Other mutations in P4hb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:P4hb APN 11 120563818 missense probably benign 0.00
R0042:P4hb UTSW 11 120568266 missense probably damaging 1.00
R0042:P4hb UTSW 11 120568266 missense probably damaging 1.00
R0362:P4hb UTSW 11 120563336 missense probably benign 0.04
R1458:P4hb UTSW 11 120562555 splice site probably benign
R1635:P4hb UTSW 11 120571616 missense probably damaging 0.97
R1750:P4hb UTSW 11 120562720 missense probably damaging 0.99
R1773:P4hb UTSW 11 120572726 missense probably damaging 1.00
R1856:P4hb UTSW 11 120563218 missense probably benign 0.23
R1874:P4hb UTSW 11 120562166 missense probably benign
R2014:P4hb UTSW 11 120562696 missense probably damaging 0.98
R2239:P4hb UTSW 11 120563282 missense probably damaging 1.00
R2331:P4hb UTSW 11 120568280 missense probably benign 0.00
R3935:P4hb UTSW 11 120562409 missense probably benign 0.20
R3936:P4hb UTSW 11 120562409 missense probably benign 0.20
R5601:P4hb UTSW 11 120571615 missense possibly damaging 0.90
R5893:P4hb UTSW 11 120571650 missense probably damaging 1.00
R6533:P4hb UTSW 11 120571643 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'- TTGCTCTAGTAATAGGCTGACC -3'
Posted On2013-07-11