Incidental Mutation 'R8080:Bpnt1'
ID629259
Institutional Source Beutler Lab
Gene Symbol Bpnt1
Ensembl Gene ENSMUSG00000026617
Gene Namebisphosphate 3'-nucleotidase 1
SynonymsBPntase
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #R8080 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location185332149-185357777 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 185352209 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000027916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000210277]
Predicted Effect probably damaging
Transcript: ENSMUST00000027916
AA Change: T168A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: T168A

DomainStartEndE-ValueType
Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110965
AA Change: T113A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
AA Change: T113A

DomainStartEndE-ValueType
Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210277
AA Change: T183A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 94.9%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe liver pathologies, including hypoproteinemia, abnormal hepatocellular morphology and damage, and in severe cases, whole body edema and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,133,074 Q277R probably damaging Het
Anapc5 T C 5: 122,807,338 N226D probably damaging Het
Bcl2l11 T C 2: 128,128,666 C12R probably damaging Het
Brca2 A T 5: 150,539,892 E1040D probably benign Het
Cdca2 G A 14: 67,677,555 Q752* probably null Het
Cntn2 T C 1: 132,521,798 D635G probably damaging Het
Cntnap5b A T 1: 100,072,203 I229F probably benign Het
Ctr9 G A 7: 111,051,567 E900K possibly damaging Het
Dmbt1 A G 7: 131,088,770 Y911C unknown Het
Egflam T A 15: 7,398,080 D2V probably benign Het
Enpep A T 3: 129,299,134 N505K probably damaging Het
Fam13a A G 6: 58,956,805 S267P probably damaging Het
Fam172a T A 13: 78,006,446 L316Q probably damaging Het
Fancc G T 13: 63,403,023 T12K Het
Fbxo3 A G 2: 104,033,667 Y89C probably damaging Het
Garem2 A G 5: 30,108,387 Y83C probably damaging Het
Gm17079 T C 14: 51,693,023 T122A Het
Gm3696 A T 14: 7,089,870 L71* probably null Het
Gm4559 C T 7: 142,273,816 R183K unknown Het
Gmip A T 8: 69,816,086 T454S possibly damaging Het
Helz2 T A 2: 181,238,262 T554S probably damaging Het
Hoxc9 C T 15: 102,982,119 T156M probably benign Het
Hrc A G 7: 45,336,838 E471G probably damaging Het
Hydin A G 8: 110,535,231 I2655V probably benign Het
Ighv1-64 T C 12: 115,507,843 H18R probably benign Het
Jcad A G 18: 4,649,270 Y47C probably benign Het
Jmjd4 A G 11: 59,450,353 T37A probably benign Het
Kalrn C T 16: 33,975,668 G2915S possibly damaging Het
Kdm5d T C Y: 910,742 F285L probably benign Het
Lmna A G 3: 88,486,561 F237L probably damaging Het
Med12l A G 3: 59,265,186 K1788E probably damaging Het
Mrgprb1 T C 7: 48,446,910 probably null Het
Myh1 T A 11: 67,211,402 Y840N probably benign Het
Negr1 C A 3: 157,160,720 A302E probably damaging Het
Nup188 T C 2: 30,337,033 V1206A possibly damaging Het
Nup205 T C 6: 35,227,376 L1399P probably damaging Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Olfr1254 T A 2: 89,788,627 I242F possibly damaging Het
Olfr53 T C 7: 140,652,474 M165T probably benign Het
Olfr810 T C 10: 129,791,128 I154V probably benign Het
Olfr892-ps1 T C 9: 38,190,589 L288S unknown Het
Pcdhb4 A G 18: 37,309,296 D553G probably benign Het
Phip A G 9: 82,887,609 L1147P probably damaging Het
Phlpp1 A G 1: 106,392,976 D1567G probably benign Het
Pigz T C 16: 31,942,040 C20R probably damaging Het
Plpp1 A G 13: 112,867,468 K252R probably benign Het
Polr2a A T 11: 69,735,048 S1759T unknown Het
Rbm42 G T 7: 30,645,711 P212T unknown Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Slc35e1 G A 8: 72,492,186 P134L probably damaging Het
Slc9a3 A C 13: 74,166,027 Q818P probably benign Het
St3gal4 T C 9: 35,106,321 probably null Het
Stard3nl G T 13: 19,370,351 A151E probably damaging Het
Syt9 T A 7: 107,436,790 I338N probably benign Het
Ticrr A T 7: 79,684,264 probably null Het
Tlr4 T A 4: 66,839,476 Y169N probably damaging Het
Tnc A C 4: 63,976,469 I1560S possibly damaging Het
Usp7 C A 16: 8,697,907 D644Y probably benign Het
Utp20 A G 10: 88,782,715 I1141T possibly damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r60 A G 7: 42,141,097 M503V probably benign Het
Zfp384 T C 6: 125,036,558 S530P unknown Het
Zfp600 T A 4: 146,196,612 C617S unknown Het
Zfp819 A G 7: 43,617,724 R544G probably damaging Het
Other mutations in Bpnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Bpnt1 APN 1 185354021 nonsense probably null
IGL01526:Bpnt1 APN 1 185345394 nonsense probably null
IGL01613:Bpnt1 APN 1 185353994 missense possibly damaging 0.95
IGL01642:Bpnt1 APN 1 185354041 missense probably benign 0.04
IGL02386:Bpnt1 APN 1 185338175 missense probably damaging 0.97
R0054:Bpnt1 UTSW 1 185341216 splice site probably benign
R0398:Bpnt1 UTSW 1 185338158 missense probably benign 0.00
R0646:Bpnt1 UTSW 1 185345426 splice site probably null
R0671:Bpnt1 UTSW 1 185356611 missense probably benign
R2944:Bpnt1 UTSW 1 185352209 missense probably damaging 1.00
R4214:Bpnt1 UTSW 1 185345429 splice site probably benign
R4323:Bpnt1 UTSW 1 185356589 missense probably benign 0.09
R4805:Bpnt1 UTSW 1 185345307 splice site probably null
R7000:Bpnt1 UTSW 1 185349856 missense probably damaging 0.98
R7532:Bpnt1 UTSW 1 185352326 missense possibly damaging 0.62
R7672:Bpnt1 UTSW 1 185346682 missense probably damaging 0.98
Z1177:Bpnt1 UTSW 1 185352269 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGTCACTTCCTGAGGAGTTC -3'
(R):5'- AATGGCACTTCTCTGTACCTTG -3'

Sequencing Primer
(F):5'- CAGAGTATTGCCAGGACAAATTAC -3'
(R):5'- GGCACTTCTCTGTACCTTGTTTCC -3'
Posted On2020-06-30