Incidental Mutation 'R6920:P4htm'
ID 539590
Institutional Source Beutler Lab
Gene Symbol P4htm
Ensembl Gene ENSMUSG00000006675
Gene Name prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
Synonyms 4933406E20Rik, P4h-tm
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6920 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108456061-108474866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108460812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 220 (G220D)
Ref Sequence ENSEMBL: ENSMUSP00000141843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000068700] [ENSMUST00000193621]
AlphaFold Q8BG58
Predicted Effect probably benign
Transcript: ENSMUST00000006853
SMART Domains Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
P4Hc 143 460 1.26e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068700
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357

DomainStartEndE-ValueType
Blast:WD40 109 142 3e-6 BLAST
WD40 198 237 1.42e-4 SMART
WD40 247 284 7.28e-2 SMART
WD40 286 326 1.72e-3 SMART
Blast:WD40 336 375 3e-13 BLAST
WD40 479 519 2.96e1 SMART
low complexity region 537 552 N/A INTRINSIC
WD40 559 598 1.77e2 SMART
Blast:WD40 600 641 7e-20 BLAST
Blast:WD40 764 815 2e-22 BLAST
Blast:WD40 855 896 2e-11 BLAST
WD40 900 949 1.48e1 SMART
WD40 973 1015 5.52e-2 SMART
WD40 1035 1076 3.98e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192080
Predicted Effect probably benign
Transcript: ENSMUST00000193621
AA Change: G220D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
AA Change: G220D

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
Blast:P4Hc 143 211 5e-39 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body weight, normal erythropoiesis, and cardioprotection after ischemia-reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S probably benign Het
Other mutations in P4htm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:P4htm APN 9 108,460,935 (GRCm39) missense probably damaging 1.00
IGL02205:P4htm APN 9 108,459,161 (GRCm39) missense probably benign 0.08
IGL02756:P4htm APN 9 108,456,977 (GRCm39) missense probably damaging 1.00
IGL02802:P4htm UTSW 9 108,460,055 (GRCm39) missense probably benign 0.00
R0605:P4htm UTSW 9 108,460,923 (GRCm39) missense probably null 0.17
R3922:P4htm UTSW 9 108,460,094 (GRCm39) missense probably benign
R4562:P4htm UTSW 9 108,459,195 (GRCm39) missense probably null 1.00
R4730:P4htm UTSW 9 108,456,971 (GRCm39) missense possibly damaging 0.89
R4900:P4htm UTSW 9 108,456,427 (GRCm39) missense probably damaging 1.00
R5027:P4htm UTSW 9 108,456,492 (GRCm39) missense probably benign 0.16
R5124:P4htm UTSW 9 108,459,141 (GRCm39) missense possibly damaging 0.59
R5633:P4htm UTSW 9 108,456,922 (GRCm39) missense probably damaging 1.00
R5877:P4htm UTSW 9 108,460,932 (GRCm39) missense possibly damaging 0.94
R5927:P4htm UTSW 9 108,474,582 (GRCm39) missense probably damaging 1.00
R6163:P4htm UTSW 9 108,459,150 (GRCm39) missense probably damaging 0.99
R6798:P4htm UTSW 9 108,460,117 (GRCm39) missense possibly damaging 0.83
R6962:P4htm UTSW 9 108,456,394 (GRCm39) missense possibly damaging 0.49
R7066:P4htm UTSW 9 108,474,162 (GRCm39) missense probably damaging 0.98
R7183:P4htm UTSW 9 108,459,059 (GRCm39) missense possibly damaging 0.95
R7376:P4htm UTSW 9 108,457,991 (GRCm39) missense probably damaging 0.98
R7506:P4htm UTSW 9 108,460,878 (GRCm39) missense probably damaging 1.00
R7533:P4htm UTSW 9 108,474,136 (GRCm39) missense probably benign 0.02
R7874:P4htm UTSW 9 108,474,148 (GRCm39) missense probably benign 0.01
R8453:P4htm UTSW 9 108,457,566 (GRCm39) unclassified probably benign
R8705:P4htm UTSW 9 108,457,240 (GRCm39) missense probably damaging 1.00
R9030:P4htm UTSW 9 108,474,627 (GRCm39) missense probably benign 0.16
R9099:P4htm UTSW 9 108,460,911 (GRCm39) missense probably benign 0.00
R9193:P4htm UTSW 9 108,460,081 (GRCm39) missense probably damaging 0.98
R9367:P4htm UTSW 9 108,459,147 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACTTGTGATAACAGCCTTCCC -3'
(R):5'- AGGAGTGTCGGCTCATCATC -3'

Sequencing Primer
(F):5'- CAGTAAGGGACTGTCAGA -3'
(R):5'- GGCTCATCATCCACCTGG -3'
Posted On 2018-11-06