Incidental Mutation 'IGL02393:P3h2'
ID293883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P3h2
Ensembl Gene ENSMUSG00000038168
Gene Nameprolyl 3-hydroxylase 2
SynonymsLeprel1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02393
Quality Score
Status
Chromosome16
Chromosomal Location25959288-26105784 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25992825 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 216 (Y216C)
Ref Sequence ENSEMBL: ENSMUSP00000038056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039990]
Predicted Effect probably damaging
Transcript: ENSMUST00000039990
AA Change: Y216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: Y216C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 27 36 N/A INTRINSIC
Pfam:TPR_2 42 73 2.5e-5 PFAM
low complexity region 81 104 N/A INTRINSIC
low complexity region 114 123 N/A INTRINSIC
Pfam:TPR_2 206 237 1.2e-5 PFAM
low complexity region 253 266 N/A INTRINSIC
internal_repeat_1 304 366 4.75e-7 PROSPERO
P4Hc 457 665 1.45e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161878
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 a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of exon 2 exhibit embryonic lethality between E8.5 and E12.5 with maternal platelets aggregate around the ectoplacental cone. Exon 3 knockouts are viable but mice exhibit reduced hydroxylation of collagen chains, especially in the sclera, leading to eye tissue dysmorphology and progressive myopia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Cdkl4 A G 17: 80,560,415 F35L probably damaging Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Deaf1 A T 7: 141,313,333 V382E possibly damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mterf4 C T 1: 93,302,879 V182I possibly damaging Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
Olfr808 T A 10: 129,767,793 V99E probably benign Het
Pdzd9 A C 7: 120,662,983 Y85* probably null Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Rogdi G A 16: 5,009,224 S306F probably benign Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D probably damaging Het
Other mutations in P3h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:P3h2 APN 16 25992798 missense probably damaging 1.00
IGL01012:P3h2 APN 16 25987248 missense probably damaging 0.98
IGL02436:P3h2 APN 16 25997200 missense probably benign 0.01
PIT4445001:P3h2 UTSW 16 25984999 missense probably benign 0.01
R0319:P3h2 UTSW 16 25970931 missense possibly damaging 0.93
R0403:P3h2 UTSW 16 25969950 missense possibly damaging 0.63
R0962:P3h2 UTSW 16 25997248 missense probably benign
R1290:P3h2 UTSW 16 25987203 missense probably damaging 0.99
R1300:P3h2 UTSW 16 25997236 nonsense probably null
R1467:P3h2 UTSW 16 25965868 splice site probably benign
R1643:P3h2 UTSW 16 25972291 missense probably benign 0.00
R1645:P3h2 UTSW 16 25997232 missense probably damaging 1.00
R1761:P3h2 UTSW 16 25985050 missense probably damaging 0.96
R4227:P3h2 UTSW 16 26105453 missense probably benign
R4273:P3h2 UTSW 16 26105221 missense probably benign 0.00
R4409:P3h2 UTSW 16 26105290 missense possibly damaging 0.88
R4410:P3h2 UTSW 16 26105290 missense possibly damaging 0.88
R4653:P3h2 UTSW 16 26105277 missense probably damaging 0.98
R4968:P3h2 UTSW 16 25992662 critical splice donor site probably null
R5190:P3h2 UTSW 16 25984949 missense possibly damaging 0.86
R6113:P3h2 UTSW 16 25981153 missense probably benign 0.01
R6225:P3h2 UTSW 16 25965743 missense probably damaging 0.97
R6838:P3h2 UTSW 16 26105284 missense possibly damaging 0.73
R6881:P3h2 UTSW 16 25992745 missense probably damaging 1.00
R7089:P3h2 UTSW 16 25965809 missense probably damaging 1.00
R7445:P3h2 UTSW 16 25985065 missense probably damaging 0.96
R7753:P3h2 UTSW 16 25970937 missense probably damaging 1.00
R8166:P3h2 UTSW 16 25992822 missense possibly damaging 0.89
Posted On2015-04-16