Incidental Mutation 'R8017:Qprt'
ID 628812
Institutional Source Beutler Lab
Gene Symbol Qprt
Ensembl Gene ENSMUSG00000030674
Gene Name quinolinate phosphoribosyltransferase
Synonyms QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase
MMRRC Submission 067457-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R8017 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126706942-126721201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 126707996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 145 (R145L)
Ref Sequence ENSEMBL: ENSMUSP00000032912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032912]
AlphaFold Q91X91
Predicted Effect probably damaging
Transcript: ENSMUST00000032912
AA Change: R145L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: R145L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik G T 4: 124,744,469 (GRCm39) A51E unknown Het
A2ml1 C T 6: 128,558,410 (GRCm39) probably null Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Bnc2 A G 4: 84,329,662 (GRCm39) L118P Het
Ccdc18 T A 5: 108,376,511 (GRCm39) Y1317* probably null Het
Ccdc93 C T 1: 121,375,993 (GRCm39) T168M probably damaging Het
Cd109 G T 9: 78,614,828 (GRCm39) D1292Y possibly damaging Het
Cdh24 G T 14: 54,876,089 (GRCm39) N184K probably damaging Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Cspg4b T A 13: 113,456,157 (GRCm39) S734R Het
Efemp2 T A 19: 5,527,708 (GRCm39) C181* probably null Het
Eftud2 A G 11: 102,734,174 (GRCm39) probably null Het
Elp2 G A 18: 24,739,920 (GRCm39) V49M possibly damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Exph5 G A 9: 53,284,752 (GRCm39) C611Y probably benign Het
Gm9376 T G 14: 118,504,951 (GRCm39) Y128D probably damaging Het
Gsdmc2 T A 15: 63,698,762 (GRCm39) N278I probably benign Het
Hace1 C T 10: 45,514,478 (GRCm39) T199M probably damaging Het
Hivep1 T C 13: 42,321,098 (GRCm39) V44A Het
Homez A C 14: 55,095,689 (GRCm39) D6E probably benign Het
Ighv5-12 A T 12: 113,665,792 (GRCm39) M102K probably damaging Het
Jup T C 11: 100,265,023 (GRCm39) T643A probably benign Het
Krt4 T A 15: 101,828,722 (GRCm39) I381F probably damaging Het
Krt6a A G 15: 101,602,304 (GRCm39) V127A probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Mtfr2 A T 10: 20,229,900 (GRCm39) N153Y probably damaging Het
Npas3 G A 12: 54,091,462 (GRCm39) V339I probably damaging Het
Nsun2 C T 13: 69,775,764 (GRCm39) R438C probably damaging Het
Oga A T 19: 45,762,107 (GRCm39) W249R probably damaging Het
Or4c1 T A 2: 89,133,595 (GRCm39) I114F possibly damaging Het
Or4k47 A C 2: 111,452,412 (GRCm39) D2E probably benign Het
Or5w16 T A 2: 87,577,392 (GRCm39) M284K probably damaging Het
Pdzd2 T C 15: 12,373,122 (GRCm39) R2338G probably damaging Het
Pgm1 A G 4: 99,843,875 (GRCm39) M553V probably benign Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Ppp2r5e A G 12: 75,511,703 (GRCm39) I340T probably damaging Het
Sertad4 T C 1: 192,528,829 (GRCm39) D329G probably benign Het
Setd2 C T 9: 110,431,255 (GRCm39) T583M Het
Slc12a7 T C 13: 73,947,839 (GRCm39) I652T probably damaging Het
Slc27a5 T C 7: 12,723,329 (GRCm39) D539G probably damaging Het
Slc36a2 A G 11: 55,055,095 (GRCm39) I320T probably benign Het
Slc6a20a A G 9: 123,466,917 (GRCm39) Y524H probably damaging Het
Slc6a20a T A 9: 123,493,639 (GRCm39) S81C probably damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Stag3 T C 5: 138,299,465 (GRCm39) M828T possibly damaging Het
Stk36 T C 1: 74,651,925 (GRCm39) V406A probably benign Het
Svep1 G T 4: 58,146,637 (GRCm39) P335Q probably damaging Het
Svs5 T A 2: 164,175,341 (GRCm39) S64R possibly damaging Het
Taf2 A G 15: 54,928,013 (GRCm39) V130A possibly damaging Het
Tbrg4 C T 11: 6,568,517 (GRCm39) V421M probably damaging Het
Tbx4 G T 11: 85,804,986 (GRCm39) K358N probably damaging Het
Tenm4 A T 7: 96,353,248 (GRCm39) T384S probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Zfp574 T A 7: 24,780,095 (GRCm39) C372* probably null 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
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
R8019:Qprt UTSW 7 126,707,996 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGCCTGTCAGTGGAGG -3'
(R):5'- ACTGCCAAGTGTCCTGGTTC -3'

Sequencing Primer
(F):5'- GACCACAGTGAGAACAGAGGCTC -3'
(R):5'- AAGCTGGTACCTGTGGTCAAG -3'
Posted On 2020-06-30