Incidental Mutation 'R5955:P4ha1'
ID 471130
Institutional Source Beutler Lab
Gene Symbol P4ha1
Ensembl Gene ENSMUSG00000019916
Gene Name procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide
Synonyms P4ha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5955 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 59159118-59209126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59178618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 96 (S96G)
Ref Sequence ENSEMBL: ENSMUSP00000090170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009789] [ENSMUST00000092512] [ENSMUST00000105466]
AlphaFold Q60715
Predicted Effect probably benign
Transcript: ENSMUST00000009789
AA Change: S96G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: S96G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:P4Ha_N 23 156 2e-47 PFAM
low complexity region 220 235 N/A INTRINSIC
P4Hc 335 518 2.2e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092512
AA Change: S96G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: S96G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:P4Ha_N 23 156 7.4e-48 PFAM
P4Hc 255 438 1.2e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105466
AA Change: S96G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: S96G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:P4Ha_N 24 155 2.1e-42 PFAM
low complexity region 220 235 N/A INTRINSIC
P4Hc 335 518 1.2e-75 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, capillary ruptures, and impaired basement membrane formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,801,629 (GRCm39) D632V probably damaging Het
Acbd6 C T 1: 155,463,205 (GRCm39) A135V probably benign Het
Adam26a A T 8: 44,022,889 (GRCm39) F200L probably benign Het
Ago3 A T 4: 126,248,843 (GRCm39) N569K probably damaging Het
Ak9 A T 10: 41,234,560 (GRCm39) L640F probably damaging Het
Ampd2 A G 3: 107,987,088 (GRCm39) V178A probably damaging Het
Anapc4 C G 5: 53,023,288 (GRCm39) H710D probably benign Het
Atad2 T C 15: 57,969,055 (GRCm39) I495V probably benign Het
Bhmt2 T C 13: 93,799,705 (GRCm39) T244A probably benign Het
Capg T C 6: 72,532,483 (GRCm39) V16A probably benign Het
Capn13 A G 17: 73,637,997 (GRCm39) F469L possibly damaging Het
Ccdc149 C T 5: 52,533,877 (GRCm39) V430I probably benign Het
Cma1 A C 14: 56,181,226 (GRCm39) Y47D probably benign Het
Col6a3 A T 1: 90,739,163 (GRCm39) L355Q probably damaging Het
Cripto C A 9: 110,773,281 (GRCm39) R18L unknown Het
Crocc G T 4: 140,745,229 (GRCm39) T1796K possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dsp T C 13: 38,378,934 (GRCm39) I1294T possibly damaging Het
Erbin A T 13: 103,966,700 (GRCm39) F1250Y probably benign Het
Fbn1 A C 2: 125,200,802 (GRCm39) C1298W probably damaging Het
Fbn2 A C 18: 58,177,328 (GRCm39) F1990V probably damaging Het
Fez2 A T 17: 78,694,472 (GRCm39) V306D probably damaging Het
Gigyf1 G A 5: 137,521,769 (GRCm39) probably null Het
Gjb4 A T 4: 127,245,745 (GRCm39) Y65* probably null Het
Gm26661 G A 14: 7,791,776 (GRCm38) A64T unknown Het
Igkv1-135 T C 6: 67,587,263 (GRCm39) S45P possibly damaging Het
Il27 T C 7: 126,194,070 (GRCm39) T5A probably benign Het
Il27ra T C 8: 84,767,451 (GRCm39) D124G probably benign Het
Itgad A G 7: 127,788,653 (GRCm39) H424R probably benign Het
Itgal T C 7: 126,904,161 (GRCm39) V258A possibly damaging Het
Kpna4 A G 3: 68,997,134 (GRCm39) V351A probably benign Het
Lama5 T C 2: 179,839,267 (GRCm39) Q747R probably damaging Het
Map4k5 A G 12: 69,891,164 (GRCm39) F168L probably damaging Het
Mecom A G 3: 30,015,195 (GRCm39) Y843H probably damaging Het
Mical3 T C 6: 121,010,711 (GRCm39) M424V probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Myb A G 10: 21,028,398 (GRCm39) I155T probably damaging Het
Nbea A T 3: 55,588,404 (GRCm39) V2445E probably benign Het
Nlrp1b A T 11: 71,108,691 (GRCm39) I270N probably damaging Het
Nlrp4f A T 13: 65,342,895 (GRCm39) M250K probably benign Het
Or13c7 T A 4: 43,854,898 (GRCm39) N196K probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52w1 C T 7: 105,017,776 (GRCm39) A72V probably damaging Het
Pcnt G T 10: 76,247,456 (GRCm39) N1025K possibly damaging Het
Pgap4 T C 4: 49,586,613 (GRCm39) E185G probably damaging Het
Phactr4 A G 4: 132,114,220 (GRCm39) F58S probably damaging Het
Phlpp1 T A 1: 106,291,960 (GRCm39) probably null Het
Rab40c A C 17: 26,103,631 (GRCm39) V144G probably damaging Het
Rnasel A G 1: 153,630,146 (GRCm39) I221V probably benign Het
Rps6kb1 T C 11: 86,404,431 (GRCm39) K241E probably damaging Het
Rrbp1 C G 2: 143,791,597 (GRCm39) E1370Q probably benign Het
Rttn T C 18: 89,139,133 (GRCm39) Y2111H probably damaging Het
Samd8 A G 14: 21,843,152 (GRCm39) H364R probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Setdb1 A G 3: 95,246,153 (GRCm39) Y590H probably damaging Het
Shkbp1 T C 7: 27,041,949 (GRCm39) N635S probably benign Het
Trpm6 A G 19: 18,869,383 (GRCm39) D1990G possibly damaging Het
Usp48 A G 4: 137,343,129 (GRCm39) N426S probably benign Het
Vmn2r16 G A 5: 109,511,613 (GRCm39) V607M possibly damaging Het
Xdh A T 17: 74,205,315 (GRCm39) V1050D probably damaging Het
Zfp110 C T 7: 12,582,672 (GRCm39) T440I possibly damaging Het
Other mutations in P4ha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:P4ha1 APN 10 59,175,157 (GRCm39) missense probably damaging 1.00
IGL01820:P4ha1 APN 10 59,197,736 (GRCm39) missense probably damaging 1.00
IGL02340:P4ha1 APN 10 59,188,023 (GRCm39) missense probably benign 0.03
IGL02480:P4ha1 APN 10 59,179,574 (GRCm39) missense probably damaging 1.00
IGL02496:P4ha1 APN 10 59,206,824 (GRCm39) critical splice acceptor site probably null
PIT4453001:P4ha1 UTSW 10 59,186,294 (GRCm39) missense probably benign
R0149:P4ha1 UTSW 10 59,184,221 (GRCm39) missense probably damaging 1.00
R0265:P4ha1 UTSW 10 59,184,081 (GRCm39) missense probably damaging 1.00
R0282:P4ha1 UTSW 10 59,172,970 (GRCm39) missense probably damaging 1.00
R0432:P4ha1 UTSW 10 59,184,079 (GRCm39) nonsense probably null
R0683:P4ha1 UTSW 10 59,172,969 (GRCm39) missense probably benign 0.05
R1929:P4ha1 UTSW 10 59,206,859 (GRCm39) missense probably damaging 1.00
R5790:P4ha1 UTSW 10 59,190,184 (GRCm39) missense probably benign 0.07
R5858:P4ha1 UTSW 10 59,175,200 (GRCm39) missense probably damaging 1.00
R6123:P4ha1 UTSW 10 59,186,349 (GRCm39) missense possibly damaging 0.80
R7237:P4ha1 UTSW 10 59,184,065 (GRCm39) missense probably benign
R7350:P4ha1 UTSW 10 59,186,240 (GRCm39) missense probably damaging 0.97
R7380:P4ha1 UTSW 10 59,186,273 (GRCm39) missense probably benign 0.28
R7583:P4ha1 UTSW 10 59,205,462 (GRCm39) missense probably benign 0.03
R8356:P4ha1 UTSW 10 59,191,185 (GRCm39) missense probably damaging 1.00
R8843:P4ha1 UTSW 10 59,205,455 (GRCm39) missense probably damaging 1.00
R8932:P4ha1 UTSW 10 59,175,130 (GRCm39) missense possibly damaging 0.95
R9081:P4ha1 UTSW 10 59,184,185 (GRCm39) missense probably damaging 1.00
R9153:P4ha1 UTSW 10 59,203,112 (GRCm39) missense probably damaging 0.98
X0062:P4ha1 UTSW 10 59,184,068 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GCTTATAATTAGTCTCATTTCCCAAGT -3'
(R):5'- CGAACACGGCTAACACTCCT -3'

Sequencing Primer
(F):5'- GGCTAGCCTTGACTTTACAGAGAC -3'
(R):5'- GAACACGGCTAACACTCCTCTTTG -3'
Posted On 2017-03-31