Incidental Mutation 'IGL01622:P3h1'
ID 278628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P3h1
Ensembl Gene ENSMUSG00000028641
Gene Name prolyl 3-hydroxylase 1
Synonyms 2410024C15Rik, Lepre1, Leprecan, Gros1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01622
Quality Score
Status
Chromosome 4
Chromosomal Location 119090112-119106172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119092480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 171 (T171I)
Ref Sequence ENSEMBL: ENSMUSP00000119695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030393] [ENSMUST00000081606] [ENSMUST00000102662] [ENSMUST00000121111] [ENSMUST00000136278] [ENSMUST00000141112]
AlphaFold Q3V1T4
Predicted Effect probably damaging
Transcript: ENSMUST00000030393
AA Change: T171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: T171I

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: T171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: T171I

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: T171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: T171I

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 probably damaging
Transcript: ENSMUST00000136278
AA Change: T171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641
AA Change: T171I

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: ENSMUST00000126056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131875
Predicted Effect probably benign
Transcript: ENSMUST00000141112
SMART Domains Protein: ENSMUSP00000115729
Gene: ENSMUSG00000078584

DomainStartEndE-ValueType
Pfam:DUF2452 27 182 2.2e-78 PFAM
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in P3h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:P3h1 APN 4 119,092,480 (GRCm39) missense probably damaging 1.00
IGL01645:P3h1 APN 4 119,093,980 (GRCm39) missense probably damaging 1.00
IGL02140:P3h1 APN 4 119,095,062 (GRCm39) missense probably damaging 1.00
IGL02415:P3h1 APN 4 119,105,152 (GRCm39) missense probably benign
IGL02543:P3h1 APN 4 119,095,053 (GRCm39) splice site probably benign
IGL02870:P3h1 APN 4 119,104,768 (GRCm39) missense probably damaging 1.00
IGL02972:P3h1 APN 4 119,105,157 (GRCm39) missense possibly damaging 0.75
IGL03067:P3h1 APN 4 119,092,477 (GRCm39) missense probably damaging 0.99
IGL03077:P3h1 APN 4 119,093,983 (GRCm39) missense probably damaging 1.00
woohoo UTSW 4 119,098,329 (GRCm39) nonsense probably null
R0194:P3h1 UTSW 4 119,095,149 (GRCm39) missense probably damaging 1.00
R0523:P3h1 UTSW 4 119,098,727 (GRCm39) missense probably benign 0.32
R0734:P3h1 UTSW 4 119,095,885 (GRCm39) missense probably damaging 1.00
R0944:P3h1 UTSW 4 119,095,956 (GRCm39) missense probably benign 0.00
R1018:P3h1 UTSW 4 119,095,104 (GRCm39) missense probably damaging 0.99
R1978:P3h1 UTSW 4 119,105,173 (GRCm39) missense probably null 0.00
R2697:P3h1 UTSW 4 119,104,377 (GRCm39) missense probably damaging 1.00
R5668:P3h1 UTSW 4 119,101,243 (GRCm39) missense possibly damaging 0.89
R5750:P3h1 UTSW 4 119,095,863 (GRCm39) missense probably damaging 0.96
R5965:P3h1 UTSW 4 119,105,424 (GRCm39) missense probably benign 0.00
R5987:P3h1 UTSW 4 119,103,862 (GRCm39) missense probably damaging 1.00
R6111:P3h1 UTSW 4 119,098,329 (GRCm39) nonsense probably null
R6786:P3h1 UTSW 4 119,095,151 (GRCm39) missense possibly damaging 0.65
R7142:P3h1 UTSW 4 119,104,358 (GRCm39) missense probably benign 0.00
R8068:P3h1 UTSW 4 119,094,059 (GRCm39) missense probably damaging 1.00
R8304:P3h1 UTSW 4 119,104,402 (GRCm39) missense probably damaging 1.00
R9502:P3h1 UTSW 4 119,094,008 (GRCm39) missense possibly damaging 0.86
R9680:P3h1 UTSW 4 119,090,428 (GRCm39) missense probably benign 0.17
Posted On 2015-04-16