Incidental Mutation 'IGL02972:P3h1'
ID365862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P3h1
Ensembl Gene ENSMUSG00000028641
Gene Nameprolyl 3-hydroxylase 1
SynonymsLepre1, Gros1, 2410024C15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02972
Quality Score
Status
Chromosome4
Chromosomal Location119232915-119248975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119247960 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 712 (Q712K)
Ref Sequence ENSEMBL: ENSMUSP00000112504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030393] [ENSMUST00000081606] [ENSMUST00000102662] [ENSMUST00000121111] [ENSMUST00000136278]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030393
AA Change: Q719K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: Q719K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 60 84 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
internal_repeat_1 136 213 2.49e-12 PROSPERO
internal_repeat_1 294 369 2.49e-12 PROSPERO
Blast:P4Hc 419 462 2e-14 BLAST
P4Hc 479 687 5.96e-53 SMART
low complexity region 714 725 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000081606
AA Change: Q533K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641
AA Change: Q533K

DomainStartEndE-ValueType
SCOP:d1hxia_ 80 195 4e-5 SMART
Blast:P4Hc 125 206 2e-11 BLAST
Blast:P4Hc 233 276 1e-14 BLAST
P4Hc 293 501 5.96e-53 SMART
low complexity region 528 539 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102662
AA Change: Q712K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: Q712K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 60 84 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
internal_repeat_1 136 213 1.9e-12 PROSPERO
internal_repeat_1 294 369 1.9e-12 PROSPERO
Blast:P4Hc 412 455 2e-14 BLAST
P4Hc 472 680 5.96e-53 SMART
low complexity region 707 718 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121111
AA Change: Q712K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: Q712K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 60 84 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
internal_repeat_1 136 213 2.32e-12 PROSPERO
internal_repeat_1 294 369 2.32e-12 PROSPERO
Blast:P4Hc 412 455 2e-14 BLAST
P4Hc 472 680 5.96e-53 SMART
low complexity region 707 718 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134548
Predicted Effect probably benign
Transcript: ENSMUST00000136278
SMART Domains Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 60 84 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
internal_repeat_1 136 198 6.76e-13 PROSPERO
internal_repeat_1 294 356 6.76e-13 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153940
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced size, disproportional reduction in long bone length, decreased bone density, decreased bone mineral density, reduced body fat, delayed ossification, and abnormal collagen networks in the skin and tendons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in P3h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:P3h1 APN 4 119235283 missense probably damaging 1.00
IGL01623:P3h1 APN 4 119235283 missense probably damaging 1.00
IGL01645:P3h1 APN 4 119236783 missense probably damaging 1.00
IGL02140:P3h1 APN 4 119237865 missense probably damaging 1.00
IGL02415:P3h1 APN 4 119247955 missense probably benign
IGL02543:P3h1 APN 4 119237856 splice site probably benign
IGL02870:P3h1 APN 4 119247571 missense probably damaging 1.00
IGL03067:P3h1 APN 4 119235280 missense probably damaging 0.99
IGL03077:P3h1 APN 4 119236786 missense probably damaging 1.00
woohoo UTSW 4 119241132 nonsense probably null
R0194:P3h1 UTSW 4 119237952 missense probably damaging 1.00
R0523:P3h1 UTSW 4 119241530 missense probably benign 0.32
R0734:P3h1 UTSW 4 119238688 missense probably damaging 1.00
R0944:P3h1 UTSW 4 119238759 missense probably benign 0.00
R1018:P3h1 UTSW 4 119237907 missense probably damaging 0.99
R1978:P3h1 UTSW 4 119247976 missense probably null 0.00
R2697:P3h1 UTSW 4 119247180 missense probably damaging 1.00
R5668:P3h1 UTSW 4 119244046 missense possibly damaging 0.89
R5750:P3h1 UTSW 4 119238666 missense probably damaging 0.96
R5965:P3h1 UTSW 4 119248227 missense probably benign 0.00
R5987:P3h1 UTSW 4 119246665 missense probably damaging 1.00
R6111:P3h1 UTSW 4 119241132 nonsense probably null
R6786:P3h1 UTSW 4 119237954 missense possibly damaging 0.65
R7142:P3h1 UTSW 4 119247161 missense probably benign 0.00
R8068:P3h1 UTSW 4 119236862 missense probably damaging 1.00
Posted On2015-12-18