Incidental Mutation 'R5190:P3h2'
ID 398073
Institutional Source Beutler Lab
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 # R5190 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 25778038-25924534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25803699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 356 (S356P)
Ref Sequence ENSEMBL: ENSMUSP00000038056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039990]
AlphaFold Q8CG71
Predicted Effect possibly damaging
Transcript: ENSMUST00000039990
AA Change: S356P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: S356P

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: ENSMUST00000160067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161878
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca7 T C 10: 79,835,427 (GRCm39) probably null Het
Abca8a C T 11: 109,980,735 (GRCm39) probably null Het
Ablim3 A G 18: 61,952,982 (GRCm39) Y361H probably benign Het
Acan C T 7: 78,748,289 (GRCm39) T1020I probably benign Het
Baat A G 4: 49,499,652 (GRCm39) L218P probably damaging Het
Bcl11b C A 12: 107,955,975 (GRCm39) C58F probably damaging Het
Cand2 G T 6: 115,766,474 (GRCm39) A360S probably damaging Het
Cdh2 A G 18: 16,783,372 (GRCm39) V62A possibly damaging Het
Cep44 C T 8: 56,985,831 (GRCm39) V354I probably benign Het
Col3a1 G A 1: 45,368,244 (GRCm39) R309Q unknown Het
Col3a1 G A 1: 45,383,967 (GRCm39) probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crtac1 A G 19: 42,322,347 (GRCm39) I131T possibly damaging Het
Decr1 C T 4: 15,924,270 (GRCm39) V217M probably damaging Het
Dnajc13 A G 9: 104,051,724 (GRCm39) V1706A probably benign Het
Dop1a A G 9: 86,369,357 (GRCm39) I63M probably damaging Het
F830045P16Rik T C 2: 129,314,635 (GRCm39) D214G probably benign Het
Fam216a T A 5: 122,505,584 (GRCm39) probably null Het
Fdxacb1 A C 9: 50,683,387 (GRCm39) H248P possibly damaging Het
Gnai1 A T 5: 18,496,596 (GRCm39) V109E probably benign Het
Helz2 A T 2: 180,872,550 (GRCm39) probably null Het
Itgam T C 7: 127,715,489 (GRCm39) probably null Het
Kcnh1 A G 1: 192,187,836 (GRCm39) S766G probably benign Het
Klra1 C A 6: 130,352,241 (GRCm39) C167F probably damaging Het
Krtap9-3 T A 11: 99,488,808 (GRCm39) T25S probably benign Het
Mapk6 T C 9: 75,295,626 (GRCm39) Y624C probably damaging Het
Or10ag2 A G 2: 87,249,187 (GRCm39) Y263C probably damaging Het
Or1ad8 T G 11: 50,898,381 (GRCm39) I194S probably damaging Het
Or2y1g T C 11: 49,171,209 (GRCm39) V78A probably damaging Het
Or52e4 C T 7: 104,705,660 (GRCm39) S69L probably damaging Het
Or9m2 T A 2: 87,821,107 (GRCm39) Y217* probably null Het
Pde12 C T 14: 26,387,532 (GRCm39) probably null Het
Rln3 T G 8: 84,769,866 (GRCm39) K94N probably damaging Het
Skint5 T C 4: 113,620,711 (GRCm39) I668V unknown Het
Slitrk5 C A 14: 111,916,852 (GRCm39) Q159K probably damaging Het
Trim3 G T 7: 105,268,716 (GRCm39) N79K probably damaging Het
Tyw1 T A 5: 130,296,756 (GRCm39) C101* probably null Het
Ulk2 T C 11: 61,672,537 (GRCm39) T934A probably benign Het
Unc5b T C 10: 60,608,072 (GRCm39) Y687C probably benign Het
Vmn1r195 C T 13: 22,462,556 (GRCm39) R9* probably null Het
Zfc3h1 T G 10: 115,254,597 (GRCm39) L1397R probably damaging Het
Zfp296 T C 7: 19,311,332 (GRCm39) V9A probably benign Het
Zfp423 T A 8: 88,509,091 (GRCm39) S397C 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
IGL02393:P3h2 APN 16 25,811,575 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCCTAGGCAACAGGTTTGTCAC -3'
(R):5'- GGCAAATCTGGCTGATTCAAATG -3'

Sequencing Primer
(F):5'- GCAACAGGTTTGTCACAAGATTGTG -3'
(R):5'- CTGGCTGATTCAAATGTGGCAAC -3'
Posted On 2016-07-06