Incidental Mutation 'R3498:P4ha2'
ID 273673
Institutional Source Beutler Lab
Gene Symbol P4ha2
Ensembl Gene ENSMUSG00000018906
Gene Name procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide
Synonyms P4hl
MMRRC Submission 040661-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R3498 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 53991750-54022494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54010079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 279 (Y279H)
Ref Sequence ENSEMBL: ENSMUSP00000133275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019050] [ENSMUST00000093107] [ENSMUST00000138477] [ENSMUST00000141258] [ENSMUST00000174616]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019050
AA Change: Y279H

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906
AA Change: Y279H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:P4Ha_N 28 159 2.6e-40 PFAM
SCOP:d1qqea_ 171 258 1e-3 SMART
Blast:P4Hc 232 303 4e-13 BLAST
P4Hc 338 521 1.61e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093107
AA Change: Y279H

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: Y279H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:P4Ha_N 27 160 6.3e-44 PFAM
SCOP:d1qqea_ 171 258 1e-3 SMART
P4Hc 338 519 7.67e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125651
Predicted Effect probably benign
Transcript: ENSMUST00000138477
SMART Domains Protein: ENSMUSP00000121119
Gene: ENSMUSG00000018906

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:P4Ha_N 27 158 3.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155299
Predicted Effect probably benign
Transcript: ENSMUST00000174616
AA Change: Y279H

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: Y279H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:P4Ha_N 27 160 6.3e-44 PFAM
SCOP:d1qqea_ 171 258 1e-3 SMART
P4Hc 338 519 7.67e-65 SMART
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (43/43)
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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,350 (GRCm39) F6L probably benign Het
Aurkc A G 7: 7,003,029 (GRCm39) I175V probably damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bcat1 A G 6: 144,965,068 (GRCm39) V45A probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ddx42 A G 11: 106,122,019 (GRCm39) E178G possibly damaging Het
Dmpk T C 7: 18,820,306 (GRCm39) I101T probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Fosb C T 7: 19,040,557 (GRCm39) R161H probably damaging Het
Gm6729 T C 10: 86,376,582 (GRCm39) noncoding transcript Het
Gnb1 T A 4: 155,639,483 (GRCm39) N237K possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Ighe G A 12: 113,234,994 (GRCm39) Q389* probably null Het
Kcnj11 T C 7: 45,749,026 (GRCm39) D23G probably damaging Het
Lats2 G T 14: 57,959,923 (GRCm39) A191E possibly damaging Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Map4 G T 9: 109,864,280 (GRCm39) V502L probably benign Het
Mgat5 A G 1: 127,312,571 (GRCm39) M237V possibly damaging Het
Mindy4 A G 6: 55,193,510 (GRCm39) R68G probably benign Het
Nell1 T A 7: 49,907,927 (GRCm39) V362E possibly damaging Het
Or5m8 T A 2: 85,822,774 (GRCm39) F204L probably benign Het
Or6c66b T A 10: 129,376,778 (GRCm39) I124N probably damaging Het
Pcid2 A G 8: 13,150,413 (GRCm39) V13A possibly damaging Het
Polr2j T C 5: 136,151,624 (GRCm39) I116T probably benign Het
Prdm9 A G 17: 15,783,207 (GRCm39) probably benign Het
Prr5 T A 15: 84,587,345 (GRCm39) V365E probably benign Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sde2 T A 1: 180,685,750 (GRCm39) C101S probably damaging Het
Sec1 T C 7: 45,328,663 (GRCm39) H128R probably damaging Het
Serpinb6a A T 13: 34,102,764 (GRCm39) M253K probably damaging Het
Slc1a4 A T 11: 20,263,973 (GRCm39) I248N probably damaging Het
Slc22a4 T G 11: 53,882,879 (GRCm39) K328N probably benign Het
Slc24a4 A T 12: 102,200,951 (GRCm39) K278N probably benign Het
Slc6a21 T A 7: 44,930,266 (GRCm39) W222R probably damaging Het
Slc7a2 A G 8: 41,365,567 (GRCm39) E466G probably benign Het
Sspo A G 6: 48,444,914 (GRCm39) T2133A possibly damaging Het
Taco1 A G 11: 105,963,364 (GRCm39) M172V probably benign Het
Tmem127 T A 2: 127,098,040 (GRCm39) H36Q probably benign Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Vac14 A G 8: 111,397,722 (GRCm39) D479G probably benign Het
Vmn1r176 T A 7: 23,534,667 (GRCm39) K162I probably benign Het
Other mutations in P4ha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:P4ha2 APN 11 54,010,131 (GRCm39) missense probably damaging 1.00
IGL01324:P4ha2 APN 11 54,010,984 (GRCm39) missense probably damaging 0.99
IGL01953:P4ha2 APN 11 54,004,996 (GRCm39) missense probably benign 0.07
IGL02053:P4ha2 APN 11 54,008,413 (GRCm39) missense probably benign
FR4342:P4ha2 UTSW 11 54,001,077 (GRCm39) small deletion probably benign
R0471:P4ha2 UTSW 11 54,008,434 (GRCm39) missense possibly damaging 0.82
R0938:P4ha2 UTSW 11 54,010,148 (GRCm39) missense possibly damaging 0.67
R1467:P4ha2 UTSW 11 53,997,236 (GRCm39) intron probably benign
R1517:P4ha2 UTSW 11 54,008,471 (GRCm39) missense probably benign
R1556:P4ha2 UTSW 11 54,015,836 (GRCm39) missense probably damaging 0.98
R3916:P4ha2 UTSW 11 54,017,074 (GRCm39) missense probably benign 0.07
R4853:P4ha2 UTSW 11 54,010,996 (GRCm39) missense probably benign 0.01
R4932:P4ha2 UTSW 11 54,015,846 (GRCm39) missense probably benign 0.05
R5020:P4ha2 UTSW 11 54,022,016 (GRCm39) missense probably damaging 1.00
R5892:P4ha2 UTSW 11 54,011,014 (GRCm39) missense probably damaging 1.00
R5975:P4ha2 UTSW 11 54,017,238 (GRCm39) critical splice donor site probably null
R6632:P4ha2 UTSW 11 54,008,474 (GRCm39) missense probably benign 0.07
R7023:P4ha2 UTSW 11 54,022,072 (GRCm39) missense probably benign 0.01
R7068:P4ha2 UTSW 11 54,001,820 (GRCm39) missense probably benign 0.03
R8963:P4ha2 UTSW 11 54,004,995 (GRCm39) missense probably benign 0.01
R9215:P4ha2 UTSW 11 54,017,226 (GRCm39) missense probably benign 0.27
R9224:P4ha2 UTSW 11 54,009,963 (GRCm39) missense possibly damaging 0.92
R9336:P4ha2 UTSW 11 54,002,390 (GRCm39) missense possibly damaging 0.67
R9582:P4ha2 UTSW 11 54,022,065 (GRCm39) nonsense probably null
RF001:P4ha2 UTSW 11 54,001,061 (GRCm39) small deletion probably benign
RF018:P4ha2 UTSW 11 54,001,072 (GRCm39) frame shift probably null
RF035:P4ha2 UTSW 11 54,001,061 (GRCm39) small deletion probably benign
RF043:P4ha2 UTSW 11 54,001,076 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCGCAGACCAGTTTCTGTAG -3'
(R):5'- AGACAATCTCCTGCCCTGTG -3'

Sequencing Primer
(F):5'- CGCAGACCAGTTTCTGTAGATGATC -3'
(R):5'- TACCAGCCTCAGCAGATGTG -3'
Posted On 2015-04-02