Incidental Mutation 'R2912:Hprt1'
ID 261327
Institutional Source Beutler Lab
Gene Symbol Hprt1
Ensembl Gene ENSMUSG00000025630
Gene Name hypoxanthine phosphoribosyltransferase 1
Synonyms Hprt, Hprt1
MMRRC Submission 040499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2912 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 52077014-52110536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52109016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 174 (Y174H)
Ref Sequence ENSEMBL: ENSMUSP00000026723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026723]
AlphaFold P00493
Predicted Effect probably damaging
Transcript: ENSMUST00000026723
AA Change: Y174H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026723
Gene: ENSMUSG00000025630
AA Change: Y174H

DomainStartEndE-ValueType
Pfam:Pribosyltran 35 196 2e-24 PFAM
Meta Mutation Damage Score 0.7621 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for null mutations exhibit a four to fivefold increase in de novo purine synthesis but are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A T 11: 69,020,866 (GRCm39) K197M probably damaging Het
Asxl2 A G 12: 3,524,517 (GRCm39) K182E probably benign Het
Birc6 A G 17: 74,999,201 (GRCm39) D4643G probably damaging Het
Bmpr1b T C 3: 141,586,139 (GRCm39) D41G probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,817,398 (GRCm39) T372A possibly damaging Het
Dbn1 A G 13: 55,630,234 (GRCm39) F45L probably damaging Het
Dhx29 A G 13: 113,072,109 (GRCm39) E251G probably damaging Het
Dnajc27 C T 12: 4,146,280 (GRCm39) S103L probably damaging Het
Dync1li1 T G 9: 114,544,743 (GRCm39) N348K probably benign Het
Emc1 T C 4: 139,092,571 (GRCm39) S504P possibly damaging Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Garin4 T C 1: 190,895,425 (GRCm39) N406S probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Kcnq2 A G 2: 180,723,567 (GRCm39) V603A probably damaging Het
Lama2 T C 10: 26,876,799 (GRCm39) S2716G probably benign Het
Lax1 A G 1: 133,611,791 (GRCm39) V48A possibly damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Med17 A G 9: 15,187,210 (GRCm39) L188P probably damaging Het
Mfsd5 A G 15: 102,189,743 (GRCm39) T372A probably benign Het
Mrgprb5 T C 7: 47,817,815 (GRCm39) S307G probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nherf2 C T 17: 24,861,215 (GRCm39) G71S probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,595 (GRCm39) S474P probably damaging Het
Nup210 T G 6: 91,003,956 (GRCm39) D644A probably damaging Het
Or10ak7 A G 4: 118,791,898 (GRCm39) I47T probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Or8g34 T C 9: 39,373,512 (GRCm39) Y259H probably damaging Het
Panx2 A G 15: 88,954,024 (GRCm39) I660V probably benign Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Prx C T 7: 27,215,654 (GRCm39) P52S probably damaging Het
Ptprf A G 4: 118,106,177 (GRCm39) S206P probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rfx6 A G 10: 51,594,226 (GRCm39) D382G probably damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Trank1 T C 9: 111,221,551 (GRCm39) S2763P probably damaging Het
Vmn1r42 T C 6: 89,821,688 (GRCm39) M294V probably benign Het
Zfp467 C A 6: 48,416,010 (GRCm39) R214L possibly damaging Het
Zfp750 C A 11: 121,403,153 (GRCm39) A532S probably benign Het
Zscan4d G A 7: 10,896,614 (GRCm39) P252L probably benign Het
Other mutations in Hprt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Hprt1 APN X 52,091,010 (GRCm39) missense probably benign
R0733:Hprt1 UTSW X 52,091,027 (GRCm39) missense probably damaging 1.00
R2913:Hprt1 UTSW X 52,109,016 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGCCTTCCTATGGGTCTG -3'
(R):5'- TATAGTCAAGGGCATATCCAACAAC -3'

Sequencing Primer
(F):5'- CCTTCCTATGGGTCTGCGAAG -3'
(R):5'- TATCCAACAACAAACTTGTCTGG -3'
Posted On 2015-01-23