Incidental Mutation 'R4393:P4ha3'
ID 326472
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 041128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4393 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 99934727-99968906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99954814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 291 (P291S)
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: P291S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: P291S

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: P157S
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: P157S

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
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ebf3 C T 7: 136,826,886 (GRCm39) R342H probably damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Epb41l4a C T 18: 34,024,473 (GRCm39) probably null Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Kctd2 T C 11: 115,320,326 (GRCm39) probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
Pign T C 1: 105,449,751 (GRCm39) K925R probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zdhhc21 A G 4: 82,765,891 (GRCm39) C15R possibly damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp606 C T 7: 12,226,776 (GRCm39) S241F probably damaging Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S 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
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'- AGTTCTTTCTGAGGCCAGTG -3'
(R):5'- TCTCATAGGAGCAGTAGAGGCTG -3'

Sequencing Primer
(F):5'- CTGAGGCCAGTGTTTGTTCATATG -3'
(R):5'- CTATTAGAAGATGGAGCCATTTGG -3'
Posted On 2015-07-06