Incidental Mutation 'R8692:P4ha3'
ID 668438
Institutional Source Beutler Lab
Gene Symbol P4ha3
Ensembl Gene ENSMUSG00000051048
Gene Name procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III
Synonyms D930031A02Rik
MMRRC Submission 068546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R8692 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99934727-99968906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99955228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 361 (I361N)
Ref Sequence ENSEMBL: ENSMUSP00000055297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057023
AA Change: I361N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: I361N

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:P4Ha_N 31 159 1.4e-31 PFAM
SCOP:d1ihga1 177 258 8e-4 SMART
P4Hc 344 526 1.08e-50 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: I227N

DomainStartEndE-ValueType
PDB:4BTB|A 1 141 7e-17 PDB
SCOP:d1ihga1 44 125 4e-4 SMART
P4Hc 211 372 4.89e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139790
SMART Domains Protein: ENSMUSP00000117015
Gene: ENSMUSG00000051048

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,327,874 (GRCm39) I1402S probably damaging Het
Abca9 T C 11: 110,032,409 (GRCm39) D736G probably benign Het
Acy1 T C 9: 106,310,377 (GRCm39) E377G probably damaging Het
Apob G A 12: 8,058,270 (GRCm39) V2251M probably damaging Het
Arhgap23 C A 11: 97,345,322 (GRCm39) T657K probably damaging Het
Cabin1 T C 10: 75,587,410 (GRCm39) K129R probably benign Het
Cdh24 A T 14: 54,875,793 (GRCm39) F259I probably benign Het
Cops6 A G 5: 138,162,083 (GRCm39) N307S probably benign Het
Cyp4a31 G A 4: 115,423,769 (GRCm39) V143M probably damaging Het
Deaf1 A T 7: 140,877,444 (GRCm39) I561K probably benign Het
Dnah7a A C 1: 53,472,175 (GRCm39) S3531A probably benign Het
Dnajc14 T A 10: 128,642,900 (GRCm39) I274N probably damaging Het
Dnmt1 A G 9: 20,853,077 (GRCm39) L48S probably damaging Het
Efna4 A T 3: 89,242,549 (GRCm39) I115N probably damaging Het
Ermp1 T A 19: 29,594,093 (GRCm39) L692F probably benign Het
Fcho2 GT G 13: 98,882,382 (GRCm39) probably null Het
Fcsk A T 8: 111,615,722 (GRCm39) C536S probably benign Het
Fermt2 A T 14: 45,742,099 (GRCm39) C82* probably null Het
Gabra6 G T 11: 42,210,537 (GRCm39) D61E probably damaging Het
Gdpd4 T A 7: 97,690,140 (GRCm39) S611T probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm17430 G A 18: 9,726,336 (GRCm39) A112V probably benign Het
Gm2381 A T 7: 42,472,071 (GRCm39) L2Q probably damaging Het
Hif3a A T 7: 16,788,701 (GRCm39) L90Q probably benign Het
Irf3 C T 7: 44,649,889 (GRCm39) Q168* probably null Het
Krt82 T G 15: 101,456,828 (GRCm39) D184A possibly damaging Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrrc49 A G 9: 60,594,445 (GRCm39) S28P probably damaging Het
Mfsd11 T A 11: 116,752,443 (GRCm39) N197K probably benign Het
Mindy1 A G 3: 95,199,587 (GRCm39) D243G probably damaging Het
Mphosph9 A T 5: 124,450,875 (GRCm39) W299R probably damaging Het
Mst1r G T 9: 107,792,050 (GRCm39) R862L possibly damaging Het
Nasp T A 4: 116,469,280 (GRCm39) probably null Het
Ncapg2 T C 12: 116,414,049 (GRCm39) I1073T probably damaging Het
Nek2 A T 1: 191,554,745 (GRCm39) K152N probably benign Het
Neurod2 T C 11: 98,218,960 (GRCm39) E68G probably benign Het
Or1j4 A T 2: 36,740,096 (GRCm39) I13F probably benign Het
Or2w3b T C 11: 58,623,595 (GRCm39) Y132C probably damaging Het
Pcdh15 T A 10: 74,289,805 (GRCm39) S875T possibly damaging Het
Pde7b G T 10: 20,423,639 (GRCm39) P79Q probably benign Het
Phb2 G A 6: 124,692,097 (GRCm39) A228T probably damaging Het
Piezo2 A T 18: 63,225,971 (GRCm39) C888* probably null Het
Pkhd1 A T 1: 20,462,374 (GRCm39) L2060Q probably damaging Het
Pms1 T C 1: 53,246,052 (GRCm39) M496V probably benign Het
Ppfibp1 C T 6: 146,892,013 (GRCm39) T91I probably benign Het
Ppp1r9b T C 11: 94,891,077 (GRCm39) L557P probably damaging Het
Ppp2r5c G T 12: 110,489,032 (GRCm39) V68L probably benign Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rasgrp1 G A 2: 117,115,353 (GRCm39) T745I probably damaging Het
Rnf144a G A 12: 26,370,972 (GRCm39) T163I probably benign Het
Sbsn A T 7: 30,451,522 (GRCm39) H179L unknown Het
Simc1 G A 13: 54,673,193 (GRCm39) V514I probably benign Het
Slc35d1 A G 4: 103,047,051 (GRCm39) M249T Het
Slfn4 T A 11: 83,079,709 (GRCm39) H466Q possibly damaging Het
Stab2 A T 10: 86,808,794 (GRCm39) C172S probably damaging Het
Tanc1 T C 2: 59,673,989 (GRCm39) I1698T probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tiam2 A C 17: 3,479,082 (GRCm39) D605A probably damaging Het
Tmed4 A T 11: 6,223,822 (GRCm39) D151E probably benign Het
Trim62 A T 4: 128,794,465 (GRCm39) I211F possibly damaging Het
Ttpa A G 4: 20,008,585 (GRCm39) D49G probably benign Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Usp34 C T 11: 23,379,325 (GRCm39) T1991I Het
Vash1 G A 12: 86,735,863 (GRCm39) V250M possibly damaging Het
Vmn1r199 T C 13: 22,567,809 (GRCm39) *368Q probably null Het
Vmn1r74 A G 7: 11,580,972 (GRCm39) T91A probably benign Het
Vmn1r8 T C 6: 57,013,557 (GRCm39) F203L probably benign Het
Vmn2r13 G T 5: 109,319,514 (GRCm39) Q489K probably benign Het
Vmn2r-ps158 G T 7: 42,697,108 (GRCm39) A722S probably benign Het
Zfp385b A T 2: 77,549,971 (GRCm39) V38E probably damaging Het
Zfp820 A G 17: 22,037,876 (GRCm39) I484T probably benign Het
Other mutations in P4ha3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:P4ha3 APN 7 99,955,140 (GRCm39) missense probably damaging 1.00
IGL01875:P4ha3 APN 7 99,949,859 (GRCm39) missense probably damaging 0.97
IGL02265:P4ha3 APN 7 99,943,139 (GRCm39) missense probably benign
IGL02957:P4ha3 APN 7 99,968,112 (GRCm39) splice site probably benign
IGL03279:P4ha3 APN 7 99,949,893 (GRCm39) missense probably damaging 1.00
R0006:P4ha3 UTSW 7 99,968,155 (GRCm39) nonsense probably null
R0880:P4ha3 UTSW 7 99,955,116 (GRCm39) missense probably benign 0.06
R1066:P4ha3 UTSW 7 99,967,270 (GRCm39) missense possibly damaging 0.77
R1118:P4ha3 UTSW 7 99,962,535 (GRCm39) missense probably damaging 0.99
R1119:P4ha3 UTSW 7 99,962,535 (GRCm39) missense probably damaging 0.99
R1236:P4ha3 UTSW 7 99,943,056 (GRCm39) missense probably damaging 1.00
R1613:P4ha3 UTSW 7 99,962,457 (GRCm39) missense possibly damaging 0.95
R1778:P4ha3 UTSW 7 99,949,898 (GRCm39) splice site probably null
R2042:P4ha3 UTSW 7 99,949,897 (GRCm39) critical splice donor site probably null
R3437:P4ha3 UTSW 7 99,934,831 (GRCm39) missense possibly damaging 0.93
R4393:P4ha3 UTSW 7 99,954,814 (GRCm39) missense probably benign 0.06
R5411:P4ha3 UTSW 7 99,943,022 (GRCm39) missense probably damaging 1.00
R5722:P4ha3 UTSW 7 99,955,198 (GRCm39) missense probably benign 0.03
R6209:P4ha3 UTSW 7 99,966,292 (GRCm39) missense probably benign 0.09
R6462:P4ha3 UTSW 7 99,963,873 (GRCm39) missense probably damaging 1.00
R6606:P4ha3 UTSW 7 99,954,851 (GRCm39) missense probably damaging 0.99
R7578:P4ha3 UTSW 7 99,943,121 (GRCm39) missense probably benign 0.02
R7769:P4ha3 UTSW 7 99,934,924 (GRCm39) missense probably damaging 0.97
R8031:P4ha3 UTSW 7 99,941,905 (GRCm39) missense probably damaging 1.00
R8090:P4ha3 UTSW 7 99,949,859 (GRCm39) missense probably damaging 0.97
R8296:P4ha3 UTSW 7 99,966,309 (GRCm39) missense probably damaging 1.00
R8379:P4ha3 UTSW 7 99,942,986 (GRCm39) missense probably damaging 0.99
R8501:P4ha3 UTSW 7 99,962,562 (GRCm39) missense probably damaging 1.00
R8516:P4ha3 UTSW 7 99,963,869 (GRCm39) missense probably damaging 0.97
RF033:P4ha3 UTSW 7 99,960,017 (GRCm39) frame shift probably null
Z1177:P4ha3 UTSW 7 99,942,995 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- AATGCCATAGTTCCCTTGACC -3'
(R):5'- TCAATCCTTTCCCGCCAGAG -3'

Sequencing Primer
(F):5'- TGACCCTTCTTTTCTTACATCAAC -3'
(R):5'- AGGCGAGTACAGCCATGCTC -3'
Posted On 2021-04-30