Incidental Mutation 'IGL01347:P4ha3'
ID 75078
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P4ha3
Ensembl Gene ENSMUSG00000051048
Gene Name procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III
Synonyms D930031A02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01347
Quality Score
Status
Chromosome 7
Chromosomal Location 99934727-99968906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99955140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 332 (L332I)
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: L332I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: L332I

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 probably benign
Transcript: ENSMUST00000138465
AA Change: L198I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: L198I

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in P4ha3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07