Incidental Mutation 'IGL01613:Bpnt1'
ID92250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpnt1
Ensembl Gene ENSMUSG00000026617
Gene Namebisphosphate 3'-nucleotidase 1
SynonymsBPntase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #IGL01613
Quality Score
Status
Chromosome1
Chromosomal Location185332149-185357777 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 185353994 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000106590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000210277]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027916
AA Change: V237A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: V237A

DomainStartEndE-ValueType
Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110965
AA Change: V182A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
AA Change: V182A

DomainStartEndE-ValueType
Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210277
AA Change: V252A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Bpnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Bpnt1 APN 1 185354021 nonsense probably null
IGL01526:Bpnt1 APN 1 185345394 nonsense probably null
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
R8080:Bpnt1 UTSW 1 185352209 missense probably damaging 1.00
Z1177:Bpnt1 UTSW 1 185352269 missense probably damaging 0.98
Posted On2013-12-09