Incidental Mutation 'R2042:P4ha3'
ID 225070
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 040049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 99934727-99968906 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 99949897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000057023] [ENSMUST00000139790] [ENSMUST00000139790]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000057023
SMART Domains Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048

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 null
Transcript: ENSMUST00000057023
SMART Domains Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048

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 null
Transcript: ENSMUST00000138465
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048

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 null
Transcript: ENSMUST00000138465
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048

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 null
Transcript: ENSMUST00000138465
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048

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 null
Transcript: ENSMUST00000138465
SMART Domains Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048

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 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: ENSMUST00000148620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208565
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E possibly damaging 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
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'- AGGAGACTTGATTTGTCACAGG -3'
(R):5'- CACGAGCGTGTGCACACA -3'

Sequencing Primer
(F):5'- CGGACCAAACAATATTCTGCATTC -3'
(R):5'- GTGCACACACACACACAC -3'
Posted On 2014-08-25