Incidental Mutation 'IGL03067:P3h1'
ID409736
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 #IGL03067
Quality Score
Status
Chromosome4
Chromosomal Location119232915-119248975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119235280 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 170 (H170R)
Ref Sequence ENSEMBL: ENSMUSP00000112504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030393] [ENSMUST00000081606] [ENSMUST00000102662] [ENSMUST00000121111] [ENSMUST00000136278] [ENSMUST00000141112]
Predicted Effect probably damaging
Transcript: ENSMUST00000030393
AA Change: H170R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: H170R

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 noncoding transcript
Transcript: ENSMUST00000046260
Predicted Effect probably benign
Transcript: ENSMUST00000081606
SMART Domains Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641

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 probably damaging
Transcript: ENSMUST00000102662
AA Change: H170R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: H170R

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 probably damaging
Transcript: ENSMUST00000121111
AA Change: H170R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: H170R

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: ENSMUST00000126056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132778
Predicted Effect probably damaging
Transcript: ENSMUST00000136278
AA Change: H170R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641
AA Change: H170R

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 probably benign
Transcript: ENSMUST00000141112
SMART Domains Protein: ENSMUSP00000115729
Gene: ENSMUSG00000078584

DomainStartEndE-ValueType
Pfam:DUF2452 27 182 2.2e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144309
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 120,010,083 D1162E probably benign Het
Abhd2 T C 7: 79,360,034 F386L probably benign Het
Adamts6 C T 13: 104,297,275 R71W probably damaging Het
Adgrv1 T C 13: 81,442,480 Y4403C probably damaging Het
Aldoart1 A T 4: 72,851,957 C205S possibly damaging Het
Ap2a1 C A 7: 44,903,511 A711S probably benign Het
Arhgef28 A G 13: 97,988,286 I496T probably benign Het
Cyp27a1 A G 1: 74,731,909 probably null Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dpy19l1 A G 9: 24,438,660 V428A probably benign Het
Foxk2 C T 11: 121,285,568 T180M possibly damaging Het
Gm3402 C A 5: 146,514,589 H86N possibly damaging Het
Gm3543 A G 14: 41,980,873 probably benign Het
Gnai3 T C 3: 108,118,293 probably benign Het
Hmcn2 C T 2: 31,346,630 P395L probably damaging Het
Igsf10 T C 3: 59,318,918 I2445V probably benign Het
Il10ra T C 9: 45,255,859 T465A probably benign Het
Itpr2 G A 6: 146,325,182 L1322F probably damaging Het
Man1b1 T C 2: 25,349,332 Y536H probably benign Het
Pakap A T 4: 57,648,038 T59S probably benign Het
Parp14 A G 16: 35,856,508 V1030A probably benign Het
Pdzd2 A G 15: 12,388,542 probably null Het
Pilra T C 5: 137,823,581 Y264C probably damaging Het
Ptprf A G 4: 118,210,713 V1799A possibly damaging Het
Rap1gap2 A G 11: 74,393,412 S649P possibly damaging Het
Rasgrf2 T C 13: 92,022,905 M426V probably damaging Het
Rpl9 A G 5: 65,390,848 I18T possibly damaging Het
Slc6a19 C A 13: 73,689,730 E217* probably null Het
Smtn C A 11: 3,530,165 R352L possibly damaging Het
Supv3l1 C A 10: 62,429,821 D647Y probably damaging Het
Sv2a A G 3: 96,185,182 Y66C probably damaging Het
Upk1b A G 16: 38,784,910 I107T probably damaging Het
Yif1a T C 19: 5,089,785 V86A possibly damaging Het
Zfp820 T C 17: 21,819,820 T176A possibly damaging 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
IGL02972:P3h1 APN 4 119247960 missense possibly damaging 0.75
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
Posted On2016-08-02