Incidental Mutation 'IGL02393:P3h2'
ID 293883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P3h2
Ensembl Gene ENSMUSG00000038168
Gene Name prolyl 3-hydroxylase 2
Synonyms Leprel1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02393
Quality Score
Status
Chromosome 16
Chromosomal Location 25778038-25924534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25811575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 216 (Y216C)
Ref Sequence ENSEMBL: ENSMUSP00000038056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039990]
AlphaFold Q8CG71
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
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Dph7 T G 2: 24,856,609 (GRCm39) V187G possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Nsg1 T C 5: 38,316,255 (GRCm39) D32G probably damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rhobtb1 A T 10: 69,124,817 (GRCm39) H555L probably damaging Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Thbs1 T C 2: 117,953,580 (GRCm39) V999A possibly damaging Het
Tmprss11d T A 5: 86,451,471 (GRCm39) *280L probably null Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D probably damaging Het
Other mutations in P3h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:P3h2 APN 16 25,811,548 (GRCm39) missense probably damaging 1.00
IGL01012:P3h2 APN 16 25,805,998 (GRCm39) missense probably damaging 0.98
IGL02436:P3h2 APN 16 25,815,950 (GRCm39) missense probably benign 0.01
PIT4445001:P3h2 UTSW 16 25,803,749 (GRCm39) missense probably benign 0.01
R0319:P3h2 UTSW 16 25,789,681 (GRCm39) missense possibly damaging 0.93
R0403:P3h2 UTSW 16 25,788,700 (GRCm39) missense possibly damaging 0.63
R0962:P3h2 UTSW 16 25,815,998 (GRCm39) missense probably benign
R1290:P3h2 UTSW 16 25,805,953 (GRCm39) missense probably damaging 0.99
R1300:P3h2 UTSW 16 25,815,986 (GRCm39) nonsense probably null
R1467:P3h2 UTSW 16 25,784,618 (GRCm39) splice site probably benign
R1643:P3h2 UTSW 16 25,791,041 (GRCm39) missense probably benign 0.00
R1645:P3h2 UTSW 16 25,815,982 (GRCm39) missense probably damaging 1.00
R1761:P3h2 UTSW 16 25,803,800 (GRCm39) missense probably damaging 0.96
R4227:P3h2 UTSW 16 25,924,203 (GRCm39) missense probably benign
R4273:P3h2 UTSW 16 25,923,971 (GRCm39) missense probably benign 0.00
R4409:P3h2 UTSW 16 25,924,040 (GRCm39) missense possibly damaging 0.88
R4410:P3h2 UTSW 16 25,924,040 (GRCm39) missense possibly damaging 0.88
R4653:P3h2 UTSW 16 25,924,027 (GRCm39) missense probably damaging 0.98
R4968:P3h2 UTSW 16 25,811,412 (GRCm39) critical splice donor site probably null
R5190:P3h2 UTSW 16 25,803,699 (GRCm39) missense possibly damaging 0.86
R6113:P3h2 UTSW 16 25,799,903 (GRCm39) missense probably benign 0.01
R6225:P3h2 UTSW 16 25,784,493 (GRCm39) missense probably damaging 0.97
R6838:P3h2 UTSW 16 25,924,034 (GRCm39) missense possibly damaging 0.73
R6881:P3h2 UTSW 16 25,811,495 (GRCm39) missense probably damaging 1.00
R7089:P3h2 UTSW 16 25,784,559 (GRCm39) missense probably damaging 1.00
R7445:P3h2 UTSW 16 25,803,815 (GRCm39) missense probably damaging 0.96
R7753:P3h2 UTSW 16 25,789,687 (GRCm39) missense probably damaging 1.00
R8166:P3h2 UTSW 16 25,811,572 (GRCm39) missense possibly damaging 0.89
R8363:P3h2 UTSW 16 25,811,468 (GRCm39) missense probably damaging 0.98
R8442:P3h2 UTSW 16 25,805,955 (GRCm39) missense probably benign 0.05
R8812:P3h2 UTSW 16 25,801,467 (GRCm39) missense possibly damaging 0.67
R8965:P3h2 UTSW 16 25,791,134 (GRCm39) missense probably benign 0.41
R9187:P3h2 UTSW 16 25,924,186 (GRCm39) missense probably benign 0.27
R9193:P3h2 UTSW 16 25,923,991 (GRCm39) missense probably benign 0.07
R9533:P3h2 UTSW 16 25,789,725 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16