Incidental Mutation 'R7237:P4ha1'
ID 562911
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
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7237 (G1)
Quality Score 224.009
Status Validated
Chromosome 10
Chromosomal Location 59159118-59209126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59184065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 176 (T176A)
Ref Sequence ENSEMBL: ENSMUSP00000009789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009789] [ENSMUST00000092512] [ENSMUST00000105466]
AlphaFold Q60715
Predicted Effect probably benign
Transcript: ENSMUST00000009789
AA Change: T176A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: T176A

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
SMART Domains Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916

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: T176A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: T176A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q probably 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
R5955:P4ha1 UTSW 10 59,178,618 (GRCm39) missense probably benign 0.00
R6123:P4ha1 UTSW 10 59,186,349 (GRCm39) missense possibly damaging 0.80
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'- GTGAAGTAATACTTGGAGAGCTATG -3'
(R):5'- TGCAGATAAGACAGACGCC -3'

Sequencing Primer
(F):5'- TTGCTAATGCTCTGGACg -3'
(R):5'- CGCTGTAAGTCAGGCCAGATAAC -3'
Posted On 2019-06-26