Incidental Mutation 'R0082:Qprt'
ID 201429
Institutional Source Beutler Lab
Gene Symbol Qprt
Ensembl Gene ENSMUSG00000030674
Gene Name quinolinate phosphoribosyltransferase
Synonyms QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase
MMRRC Submission 038369-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R0082 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126706942-126721201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126707358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 246 (E246G)
Ref Sequence ENSEMBL: ENSMUSP00000032912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032912]
AlphaFold Q91X91
Predicted Effect probably damaging
Transcript: ENSMUST00000032912
AA Change: E246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:QRPTase_N 27 112 5.5e-24 PFAM
Pfam:QRPTase_C 114 284 1.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129332
Meta Mutation Damage Score 0.8918 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.3%
  • 10x: 91.7%
  • 20x: 73.7%
Validation Efficiency 94% (136/144)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ankrd33b T C 15: 31,297,935 (GRCm39) N274S probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Arhgef1 C T 7: 24,612,030 (GRCm39) Q100* probably null Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Cdh4 A T 2: 179,535,981 (GRCm39) N844I possibly damaging Het
Cep57 T C 9: 13,722,172 (GRCm39) probably benign Het
Dnah7a A T 1: 53,557,867 (GRCm39) D2182E probably damaging Het
Dync1h1 A G 12: 110,602,880 (GRCm39) T2174A probably benign Het
Eef1akmt2 T A 7: 132,453,201 (GRCm39) R44* probably null Het
Evpl T A 11: 116,125,829 (GRCm39) I43F probably damaging Het
F13a1 G T 13: 37,172,927 (GRCm39) P151Q probably damaging Het
Galnt5 A T 2: 57,889,047 (GRCm39) I216F possibly damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gpr139 T A 7: 118,744,268 (GRCm39) T106S probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Hoxb3 A G 11: 96,235,097 (GRCm39) D8G probably damaging Het
Hpse T C 5: 100,840,128 (GRCm39) K330E possibly damaging Het
Kcmf1 G T 6: 72,827,470 (GRCm39) probably null Het
Klra2 T C 6: 131,197,210 (GRCm39) N263S possibly damaging Het
Klra8 T C 6: 130,102,018 (GRCm39) D139G probably benign Het
Lrrc46 A C 11: 96,931,903 (GRCm39) probably benign Het
Ly86 A T 13: 37,602,513 (GRCm39) probably null Het
Mmp20 C T 9: 7,642,808 (GRCm39) T214M probably benign Het
Or4k5 A T 14: 50,385,512 (GRCm39) I273K probably damaging Het
Or52s1b G T 7: 102,822,409 (GRCm39) A145E probably benign Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pigg A G 5: 108,460,751 (GRCm39) probably benign Het
Polq C A 16: 36,837,619 (GRCm39) T177K probably benign Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ppip5k2 A T 1: 97,687,057 (GRCm39) C49* probably null Het
Prkrip1 T C 5: 136,226,682 (GRCm39) N53D possibly damaging Het
Prrc2b T C 2: 32,102,310 (GRCm39) probably benign Het
Rpl9 A G 5: 65,545,995 (GRCm39) V167A probably benign Het
Rskr T C 11: 78,184,384 (GRCm39) S244P probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sgsm1 T C 5: 113,436,702 (GRCm39) I43V probably benign Het
Slc38a7 A G 8: 96,567,109 (GRCm39) probably benign Het
Slc8b1 A G 5: 120,662,265 (GRCm39) probably benign Het
Sp2 T C 11: 96,852,525 (GRCm39) Y133C probably damaging Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Stox2 A T 8: 47,656,317 (GRCm39) probably benign Het
Synrg T A 11: 83,878,736 (GRCm39) probably benign Het
Tie1 T A 4: 118,341,550 (GRCm39) E254V probably damaging Het
Tmem97 G T 11: 78,433,414 (GRCm39) F160L probably damaging Het
Utp6 A T 11: 79,844,457 (GRCm39) H189Q possibly damaging Het
Vip T A 10: 5,594,953 (GRCm39) *172R probably null Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Wipi1 T C 11: 109,469,110 (GRCm39) probably benign Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A probably damaging Het
Other mutations in Qprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02089:Qprt APN 7 126,707,528 (GRCm39) missense probably damaging 0.97
IGL02552:Qprt APN 7 126,708,027 (GRCm39) missense probably damaging 1.00
R0116:Qprt UTSW 7 126,708,269 (GRCm39) missense probably damaging 1.00
R0173:Qprt UTSW 7 126,707,543 (GRCm39) missense probably damaging 1.00
R0615:Qprt UTSW 7 126,708,248 (GRCm39) missense probably damaging 0.96
R1703:Qprt UTSW 7 126,707,343 (GRCm39) missense probably benign 0.34
R2402:Qprt UTSW 7 126,707,532 (GRCm39) missense probably benign 0.01
R5147:Qprt UTSW 7 126,707,622 (GRCm39) missense probably damaging 1.00
R5752:Qprt UTSW 7 126,708,416 (GRCm39) missense probably benign 0.00
R6337:Qprt UTSW 7 126,708,101 (GRCm39) missense probably damaging 1.00
R7112:Qprt UTSW 7 126,707,361 (GRCm39) missense probably damaging 1.00
R7136:Qprt UTSW 7 126,707,984 (GRCm39) missense probably damaging 1.00
R8017:Qprt UTSW 7 126,707,996 (GRCm39) missense probably damaging 1.00
R8019:Qprt UTSW 7 126,707,996 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGACCCAAGGTGCCCAACAAG -3'
(R):5'- GCTGACCTGGTAATGCTGGACAAC -3'

Sequencing Primer
(F):5'- AAGCCGCAGTAGTCCATTCTG -3'
(R):5'- GCTGGACAACTTTAAGCCTG -3'
Posted On 2014-06-10