Incidental Mutation 'R5147:Qprt'
ID 395157
Institutional Source Beutler Lab
Gene Symbol Qprt
Ensembl Gene ENSMUSG00000030674
Gene Name quinolinate phosphoribosyltransferase
Synonyms QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase
MMRRC Submission 042731-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # R5147 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126706942-126721201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126707622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 189 (R189W)
Ref Sequence ENSEMBL: ENSMUSP00000032912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032912]
AlphaFold Q91X91
Predicted Effect probably damaging
Transcript: ENSMUST00000032912
AA Change: R189W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: R189W

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,149 (GRCm39) Y2121H probably benign Het
Adgrf2 A G 17: 43,021,574 (GRCm39) Y417H probably damaging Het
Ap5z1 A C 5: 142,452,265 (GRCm39) D66A probably benign Het
Cachd1 T A 4: 100,821,688 (GRCm39) Y422N probably damaging Het
Cfap54 C T 10: 92,773,700 (GRCm39) G114D probably benign Het
Cgref1 C T 5: 31,091,049 (GRCm39) G255E probably benign Het
Cyp2a22 A C 7: 26,635,750 (GRCm39) L271R probably damaging Het
Dcp2 G T 18: 44,550,662 (GRCm39) E379* probably null Het
Fhl3 T A 4: 124,601,724 (GRCm39) D277E probably benign Het
Gm19684 C T 17: 36,439,411 (GRCm39) V190M probably damaging Het
Hpse T C 5: 100,867,375 (GRCm39) D29G probably benign Het
Il31 T C 5: 123,620,121 (GRCm39) probably benign Het
Ilk T C 7: 105,391,774 (GRCm39) C422R possibly damaging Het
Itga1 T G 13: 115,121,678 (GRCm39) D777A possibly damaging Het
Kank3 A G 17: 34,041,176 (GRCm39) D556G probably damaging Het
Lrit3 A G 3: 129,597,574 (GRCm39) S36P possibly damaging Het
Magi1 C T 6: 93,724,248 (GRCm39) E256K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mymk C T 2: 26,952,299 (GRCm39) M148I probably benign Het
Nlrp12 T A 7: 3,290,003 (GRCm39) I170F possibly damaging Het
Odad3 T C 9: 21,906,158 (GRCm39) E260G probably benign Het
Or5al7 A T 2: 85,992,378 (GRCm39) I305K possibly damaging Het
Or5an11 T A 19: 12,246,268 (GRCm39) S225T probably damaging Het
Pkd1l1 G A 11: 8,799,003 (GRCm39) T1803I possibly damaging Het
Ppp2r2b C T 18: 42,778,942 (GRCm39) V398I probably benign Het
Ppp2r5e T A 12: 75,516,544 (GRCm39) R214S probably damaging Het
Prss16 T C 13: 22,190,264 (GRCm39) D298G possibly damaging Het
Rara C T 11: 98,841,550 (GRCm39) S36F probably benign Het
Rasal2 A G 1: 157,003,264 (GRCm39) V465A probably damaging Het
Slc22a1 C T 17: 12,869,838 (GRCm39) G508R probably damaging Het
Slco2a1 C A 9: 102,927,468 (GRCm39) F120L probably damaging Het
Tex15 T A 8: 34,062,340 (GRCm39) L864* probably null Het
Tssk4 A G 14: 55,888,430 (GRCm39) I100V possibly damaging Het
Vgll4 A G 6: 114,867,576 (GRCm39) probably null Het
Vmn1r65 T G 7: 6,011,818 (GRCm39) I139L probably benign Het
Vps13b C T 15: 35,456,824 (GRCm39) P757S probably benign Het
Ythdc2 G A 18: 44,977,359 (GRCm39) G385E 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
R0082:Qprt UTSW 7 126,707,358 (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
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'- CATCCCAACATTGCCCATTG -3'
(R):5'- GAGCCTCTGTTCTCACTGTG -3'

Sequencing Primer
(F):5'- GGCCCTGCCCAGAAGTTG -3'
(R):5'- TCCACTGACAGGCATTTCAG -3'
Posted On 2016-06-21