Incidental Mutation 'IGL02089:Qprt'
ID 279344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qprt
Ensembl Gene ENSMUSG00000030674
Gene Name quinolinate phosphoribosyltransferase
Synonyms QPRTase, 2410027J01Rik, nicotinate-nucleotide pyrophosphorylase
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # IGL02089
Quality Score
Status
Chromosome 7
Chromosomal Location 126706942-126721201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126707528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 220 (M220K)
Ref Sequence ENSEMBL: ENSMUSP00000032912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032912]
AlphaFold Q91X91
Predicted Effect probably damaging
Transcript: ENSMUST00000032912
AA Change: M220K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032912
Gene: ENSMUSG00000030674
AA Change: M220K

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 68,951,013 (GRCm39) silent Het
Adck1 G T 12: 88,413,480 (GRCm39) V271F probably damaging Het
Aggf1 T C 13: 95,507,437 (GRCm39) D116G probably benign Het
Anapc1 A T 2: 128,505,853 (GRCm39) V661E probably damaging Het
Apoa5 T C 9: 46,180,437 (GRCm39) probably null Het
Atp8a2 C T 14: 60,264,369 (GRCm39) probably null Het
Bnipl A T 3: 95,157,577 (GRCm39) probably benign Het
Cbs T G 17: 31,834,519 (GRCm39) D490A probably benign Het
Chrdl1 G T X: 142,086,510 (GRCm39) H199N possibly damaging Het
Dcaf1 C T 9: 106,740,310 (GRCm39) T1232I probably benign Het
Ddx19b T C 8: 111,735,477 (GRCm39) probably benign Het
Ephb4 A G 5: 137,369,024 (GRCm39) K805E probably damaging Het
Ergic3 A G 2: 155,852,395 (GRCm39) N135D probably benign Het
Fbxw18 C T 9: 109,530,390 (GRCm39) V74I probably benign Het
Fmo4 G T 1: 162,626,649 (GRCm39) T299N probably benign Het
Gmeb1 T C 4: 131,953,147 (GRCm39) K540E probably damaging Het
H60c T A 10: 3,209,826 (GRCm39) S154C possibly damaging Het
Herc1 T C 9: 66,388,151 (GRCm39) L3812S probably damaging Het
Hipk3 T C 2: 104,261,724 (GRCm39) D937G probably damaging Het
Ift122 A G 6: 115,902,398 (GRCm39) D1079G probably benign Het
Il6st T C 13: 112,631,774 (GRCm39) W438R probably benign Het
Lypla2 C T 4: 135,696,932 (GRCm39) V117I probably benign Het
Mapk8ip1 T C 2: 92,216,220 (GRCm39) Y516C probably damaging Het
Mmp24 G A 2: 155,654,213 (GRCm39) G397D probably damaging Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Muc5b T G 7: 141,416,987 (GRCm39) V3311G probably benign Het
Naca A G 10: 127,872,358 (GRCm39) probably benign Het
Nrxn1 A G 17: 91,395,829 (GRCm39) V109A probably benign Het
Nup210 T G 6: 91,053,680 (GRCm39) D279A probably benign Het
Or10g6 A T 9: 39,934,066 (GRCm39) I126F probably damaging Het
Or8h7 A G 2: 86,721,460 (GRCm39) S20P possibly damaging Het
Pappa T A 4: 65,074,361 (GRCm39) V305E possibly damaging Het
Pcdh19 A T X: 132,489,245 (GRCm39) M977K probably benign Het
Pdzph1 T A 17: 59,274,334 (GRCm39) I837F possibly damaging Het
Phip A T 9: 82,753,372 (GRCm39) L1791M probably damaging Het
Pkdrej C T 15: 85,700,489 (GRCm39) V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,447 (GRCm39) V1063M probably damaging Het
R3hcc1 T C 14: 69,937,475 (GRCm39) K391E possibly damaging Het
Rbbp7 C A X: 161,554,052 (GRCm39) P162Q probably benign Het
Rev3l A T 10: 39,701,095 (GRCm39) N1864I probably damaging Het
Rims1 A G 1: 22,669,556 (GRCm39) I84T possibly damaging Het
Rnase2b A T 14: 51,400,240 (GRCm39) K107I probably benign Het
Sbf1 C A 15: 89,186,708 (GRCm39) E864* probably null Het
Strip2 G A 6: 29,917,179 (GRCm39) probably benign Het
Stx4a T C 7: 127,447,570 (GRCm39) I238T probably damaging Het
Tbc1d2b C T 9: 90,104,412 (GRCm39) V577I possibly damaging Het
Tex38 T C 4: 115,637,591 (GRCm39) T71A possibly damaging Het
Usp38 T C 8: 81,712,343 (GRCm39) E564G possibly damaging Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Wwp2 T A 8: 108,280,689 (GRCm39) L644Q probably damaging Het
Zfp267 T C 3: 36,218,877 (GRCm39) F300S possibly damaging Het
Zpld1 A G 16: 55,071,974 (GRCm39) I95T probably benign Het
Other mutations in Qprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16