Incidental Mutation 'R0880:P4ha3'
ID 80465
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 039047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0880 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 99934727-99968906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99955116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 324 (T324A)
Ref Sequence ENSEMBL: ENSMUSP00000055297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057023
AA Change: T324A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: T324A

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 unknown
Transcript: ENSMUST00000138465
AA Change: T190A
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: T190A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208565
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.5%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,537,609 (GRCm39) Y701H possibly damaging Het
Akap6 A G 12: 53,186,291 (GRCm39) D1235G possibly damaging Het
Arhgef18 A G 8: 3,439,032 (GRCm39) probably benign Het
Astn2 A G 4: 65,566,567 (GRCm39) Y812H probably damaging Het
Bmpr1b G T 3: 141,576,557 (GRCm39) S92* probably null Het
Camsap2 T C 1: 136,208,708 (GRCm39) D934G probably benign Het
Cdh23 A G 10: 60,242,200 (GRCm39) V1076A possibly damaging Het
Cdhr1 T C 14: 36,802,591 (GRCm39) D624G possibly damaging Het
Cfap57 A T 4: 118,439,035 (GRCm39) Y830* probably null Het
Eml3 A G 19: 8,918,279 (GRCm39) D790G possibly damaging Het
Ess2 A G 16: 17,729,051 (GRCm39) V40A probably damaging Het
Gucy2c T C 6: 136,686,830 (GRCm39) probably null Het
Helz2 A C 2: 180,877,928 (GRCm39) S957A probably benign Het
Ifi209 T A 1: 173,472,379 (GRCm39) S407T probably damaging Het
Iftap T A 2: 101,406,455 (GRCm39) T158S probably benign Het
Muc6 T C 7: 141,217,270 (GRCm39) T2403A possibly damaging Het
Nfe2 T C 15: 103,157,689 (GRCm39) N101D probably damaging Het
Nsf A T 11: 103,804,198 (GRCm39) V178D possibly damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Rhbdf1 T C 11: 32,163,432 (GRCm39) probably null Het
Samd9l G A 6: 3,377,064 (GRCm39) L66F probably damaging Het
Speg T C 1: 75,381,705 (GRCm39) F1024S probably damaging Het
Sspo A G 6: 48,452,869 (GRCm39) N2859S possibly damaging Het
Tnfrsf21 G A 17: 43,348,733 (GRCm39) W115* probably null 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
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
R8692:P4ha3 UTSW 7 99,955,228 (GRCm39) missense probably damaging 0.99
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'- ACTGCAATTCAGAGGCCCAACG -3'
(R):5'- CAGAGGGTATTTGGGGATGCTCAC -3'

Sequencing Primer
(F):5'- CCTGATGCCTTAATGGTGATACAAC -3'
(R):5'- TCACCCACGGTTCTGCAAG -3'
Posted On 2013-11-07