Incidental Mutation 'R5020:P4ha2'
ID 446616
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 042611-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R5020 (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 54022016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 513 (V513A)
Ref Sequence ENSEMBL: ENSMUSP00000133275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019050] [ENSMUST00000093107] [ENSMUST00000174616]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019050
AA Change: V515A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906
AA Change: V515A

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 damaging
Transcript: ENSMUST00000093107
AA Change: V513A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: V513A

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 noncoding transcript
Transcript: ENSMUST00000139315
Predicted Effect probably damaging
Transcript: ENSMUST00000174616
AA Change: V513A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: V513A

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 0.2796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,042,929 (GRCm39) probably null Het
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Clec2i T A 6: 128,870,621 (GRCm39) V78E probably benign Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Map4 A G 9: 109,897,868 (GRCm39) M712V probably benign Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
Or6p1 T G 1: 174,258,237 (GRCm39) L81R probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phf12 T C 11: 77,914,622 (GRCm39) F139S probably damaging Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Plekho1 A G 3: 95,896,851 (GRCm39) F215S probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F 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
R3498:P4ha2 UTSW 11 54,010,079 (GRCm39) missense probably benign 0.28
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
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'- ACCCACCGAATCACTGGTTG -3'
(R):5'- AGTCAAACACTGGCTCCTCC -3'

Sequencing Primer
(F):5'- GAATCACTGGTTGGCTTCTGCAC -3'
(R):5'- TCCAATGACCTGCCTGACAG -3'
Posted On 2016-11-23