Incidental Mutation 'IGL02089:Qprt'
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ID279344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qprt
Ensembl Gene ENSMUSG00000030674
Gene Namequinolinate phosphoribosyltransferase
Synonymsnicotinate-nucleotide pyrophosphorylase, 2410027J01Rik, QPRTase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.323) question?
Stock #IGL02089
Quality Score
Status
Chromosome7
Chromosomal Location127107114-127122226 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127108356 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 220 (M220K)
Ref Sequence ENSEMBL: ENSMUSP00000032912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032912]
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: 69,060,187 silent Het
Adck1 G T 12: 88,446,710 V271F probably damaging Het
Aggf1 T C 13: 95,370,929 D116G probably benign Het
Anapc1 A T 2: 128,663,933 V661E probably damaging Het
Apoa5 T C 9: 46,269,139 probably null Het
Atp8a2 C T 14: 60,026,920 probably null Het
Bnipl A T 3: 95,250,266 probably benign Het
Cbs T G 17: 31,615,545 D490A probably benign Het
Chrdl1 G T X: 143,303,514 H199N possibly damaging Het
D3Ertd254e T C 3: 36,164,728 F300S possibly damaging Het
Dcaf1 C T 9: 106,863,111 T1232I probably benign Het
Ddx19b T C 8: 111,008,845 probably benign Het
Ephb4 A G 5: 137,370,762 K805E probably damaging Het
Ergic3 A G 2: 156,010,475 N135D probably benign Het
Fbxw18 C T 9: 109,701,322 V74I probably benign Het
Fmo4 G T 1: 162,799,080 T299N probably benign Het
Gmeb1 T C 4: 132,225,836 K540E probably damaging Het
H60c T A 10: 3,259,826 S154C possibly damaging Het
Herc1 T C 9: 66,480,869 L3812S probably damaging Het
Hipk3 T C 2: 104,431,379 D937G probably damaging Het
Ift122 A G 6: 115,925,437 D1079G probably benign Het
Il6st T C 13: 112,495,240 W438R probably benign Het
Lypla2 C T 4: 135,969,621 V117I probably benign Het
Mapk8ip1 T C 2: 92,385,875 Y516C probably damaging Het
Mmp24 G A 2: 155,812,293 G397D probably damaging Het
Muc4 G A 16: 32,751,313 S397N possibly damaging Het
Muc5b T G 7: 141,863,250 V3311G probably benign Het
Naca A G 10: 128,036,489 probably benign Het
Nrxn1 A G 17: 91,088,401 V109A probably benign Het
Nup210 T G 6: 91,076,698 D279A probably benign Het
Olfr1097 A G 2: 86,891,116 S20P possibly damaging Het
Olfr981 A T 9: 40,022,770 I126F probably damaging Het
Pappa T A 4: 65,156,124 V305E possibly damaging Het
Pcdh19 A T X: 133,588,496 M977K probably benign Het
Pdzph1 T A 17: 58,967,339 I837F possibly damaging Het
Phip A T 9: 82,871,319 L1791M probably damaging Het
Pkdrej C T 15: 85,816,288 V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,448 V1063M probably damaging Het
R3hcc1 T C 14: 69,700,026 K391E possibly damaging Het
Rbbp7 C A X: 162,771,056 P162Q probably benign Het
Rev3l A T 10: 39,825,099 N1864I probably damaging Het
Rims1 A G 1: 22,630,475 I84T possibly damaging Het
Rnase2b A T 14: 51,162,783 K107I probably benign Het
Sbf1 C A 15: 89,302,505 E864* probably null Het
Strip2 G A 6: 29,917,180 probably benign Het
Stx4a T C 7: 127,848,398 I238T probably damaging Het
Tbc1d2b C T 9: 90,222,359 V577I possibly damaging Het
Tex38 T C 4: 115,780,394 T71A possibly damaging Het
Usp38 T C 8: 80,985,714 E564G possibly damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Wwp2 T A 8: 107,554,057 L644Q probably damaging Het
Zpld1 A G 16: 55,251,611 I95T probably benign Het
Other mutations in Qprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Qprt APN 7 127108855 missense probably damaging 1.00
R0082:Qprt UTSW 7 127108186 missense probably damaging 1.00
R0116:Qprt UTSW 7 127109097 missense probably damaging 1.00
R0173:Qprt UTSW 7 127108371 missense probably damaging 1.00
R0615:Qprt UTSW 7 127109076 missense probably damaging 0.96
R1703:Qprt UTSW 7 127108171 missense probably benign 0.34
R2402:Qprt UTSW 7 127108360 missense probably benign 0.01
R5147:Qprt UTSW 7 127108450 missense probably damaging 1.00
R5752:Qprt UTSW 7 127109244 missense probably benign 0.00
R6337:Qprt UTSW 7 127108929 missense probably damaging 1.00
R7112:Qprt UTSW 7 127108189 missense probably damaging 1.00
R7136:Qprt UTSW 7 127108812 missense probably damaging 1.00
R8019:Qprt UTSW 7 127108824 missense not run
Posted On2015-04-16