Incidental Mutation 'IGL01613:Bpnt1'
ID 92250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpnt1
Ensembl Gene ENSMUSG00000026617
Gene Name 3'(2'), 5'-bisphosphate nucleotidase 1
Synonyms bisphosphate 3'-nucleotidase 1, BPntase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL01613
Quality Score
Status
Chromosome 1
Chromosomal Location 185064346-185089974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 185086191 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z0S1
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: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Bpnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Bpnt1 APN 1 185,086,218 (GRCm39) nonsense probably null
IGL01526:Bpnt1 APN 1 185,077,591 (GRCm39) nonsense probably null
IGL01642:Bpnt1 APN 1 185,086,238 (GRCm39) missense probably benign 0.04
IGL02386:Bpnt1 APN 1 185,070,372 (GRCm39) missense probably damaging 0.97
doktor UTSW 1 185,088,786 (GRCm39) missense probably benign 0.09
wikken UTSW 1 185,077,504 (GRCm39) splice site probably null
R0054:Bpnt1 UTSW 1 185,073,413 (GRCm39) splice site probably benign
R0398:Bpnt1 UTSW 1 185,070,355 (GRCm39) missense probably benign 0.00
R0646:Bpnt1 UTSW 1 185,077,623 (GRCm39) splice site probably null
R0671:Bpnt1 UTSW 1 185,088,808 (GRCm39) missense probably benign
R2944:Bpnt1 UTSW 1 185,084,406 (GRCm39) missense probably damaging 1.00
R4214:Bpnt1 UTSW 1 185,077,626 (GRCm39) splice site probably benign
R4323:Bpnt1 UTSW 1 185,088,786 (GRCm39) missense probably benign 0.09
R4805:Bpnt1 UTSW 1 185,077,504 (GRCm39) splice site probably null
R7000:Bpnt1 UTSW 1 185,082,053 (GRCm39) missense probably damaging 0.98
R7532:Bpnt1 UTSW 1 185,084,523 (GRCm39) missense possibly damaging 0.62
R7672:Bpnt1 UTSW 1 185,078,879 (GRCm39) missense probably damaging 0.98
R8080:Bpnt1 UTSW 1 185,084,406 (GRCm39) missense probably damaging 1.00
R9424:Bpnt1 UTSW 1 185,070,335 (GRCm39) missense possibly damaging 0.56
R9523:Bpnt1 UTSW 1 185,077,584 (GRCm39) missense probably damaging 0.99
Z1177:Bpnt1 UTSW 1 185,084,466 (GRCm39) missense probably damaging 0.98
Posted On 2013-12-09