Incidental Mutation 'R9424:Bpnt1'
ID 712474
Institutional Source Beutler Lab
Gene Symbol Bpnt1
Ensembl Gene ENSMUSG00000026617
Gene Name 3'(2'), 5'-bisphosphate nucleotidase 1
Synonyms bisphosphate 3'-nucleotidase 1, BPntase
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R9424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 185064346-185089974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 185070335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 9 (M9T)
Ref Sequence ENSEMBL: ENSMUSP00000027916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000151769] [ENSMUST00000210277]
AlphaFold Q9Z0S1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027916
AA Change: M9T

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: M9T

DomainStartEndE-ValueType
Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110965
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617

DomainStartEndE-ValueType
Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151769
AA Change: M9T

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117122
Gene: ENSMUSG00000026617
AA Change: M9T

DomainStartEndE-ValueType
Pfam:Inositol_P 8 83 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210277
AA Change: M9T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ak2 A G 4: 128,896,195 (GRCm39) E120G possibly damaging Het
Akap9 C A 5: 4,012,223 (GRCm39) Y975* probably null Het
Akap9 C T 5: 4,012,224 (GRCm39) Q976* probably null Het
C4bp C A 1: 130,584,912 (GRCm39) L41F probably damaging Het
Car3 A T 3: 14,929,450 (GRCm39) I59F Het
Card11 T C 5: 140,894,395 (GRCm39) D78G probably damaging Het
Ccdc125 A G 13: 100,820,876 (GRCm39) D199G possibly damaging Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd48 T A 1: 171,532,432 (GRCm39) I237N possibly damaging Het
Cep295 T C 9: 15,244,499 (GRCm39) E1319G probably damaging Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dennd2a A T 6: 39,485,294 (GRCm39) Y328* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dip2c A G 13: 9,709,431 (GRCm39) T1424A probably damaging Het
Dlg2 A G 7: 92,080,325 (GRCm39) N733S probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Fgd5 A T 6: 91,956,017 (GRCm39) R3* probably null Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Gm5591 A T 7: 38,219,721 (GRCm39) L384Q probably damaging Het
Grm5 C T 7: 87,765,484 (GRCm39) A904V probably benign Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hspb7 A G 4: 141,149,241 (GRCm39) D49G possibly damaging Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Kalrn T C 16: 33,809,188 (GRCm39) T2567A probably benign Het
Kat8 T C 7: 127,524,100 (GRCm39) L380S probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Mgat4a C A 1: 37,529,436 (GRCm39) V148F probably damaging Het
Mtg1 T A 7: 139,727,212 (GRCm39) Y238* probably null Het
Neb T A 2: 52,041,410 (GRCm39) Q6807L probably benign Het
Nlrp9a C A 7: 26,260,178 (GRCm39) F644L probably benign Het
Pcdhb15 A G 18: 37,607,263 (GRCm39) N165S Het
Pcdhb5 C A 18: 37,454,120 (GRCm39) Q167K probably damaging Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Piezo1 A G 8: 123,218,079 (GRCm39) V1220A Het
Pkd1l1 T C 11: 8,820,091 (GRCm39) T1713A Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Ppfia4 C A 1: 134,247,044 (GRCm39) V559F possibly damaging Het
Ppil6 T C 10: 41,379,024 (GRCm39) S224P probably damaging Het
Ppp2r2d T A 7: 138,475,978 (GRCm39) M262K possibly damaging Het
Prl7d1 A T 13: 27,894,185 (GRCm39) M127K probably benign Het
Rassf9 T A 10: 102,381,577 (GRCm39) C320S probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Serpinb9b A G 13: 33,213,544 (GRCm39) S34G probably damaging Het
Slc19a2 T C 1: 164,076,895 (GRCm39) V25A probably damaging Het
Slc1a2 G A 2: 102,591,394 (GRCm39) E375K probably damaging Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sparcl1 A T 5: 104,241,030 (GRCm39) D131E possibly damaging Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Sufu G A 19: 46,474,320 (GRCm39) W465* probably null Het
Szt2 A G 4: 118,248,151 (GRCm39) L691P probably damaging Het
Tbc1d4 A T 14: 101,703,096 (GRCm39) I783N probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Tmem217 C A 17: 29,745,690 (GRCm39) M13I possibly damaging Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Trp53bp2 T C 1: 182,273,864 (GRCm39) V503A possibly damaging Het
Tspoap1 G A 11: 87,652,082 (GRCm39) probably benign Het
Ttn T C 2: 76,582,347 (GRCm39) T22849A probably damaging Het
Ugt2b37 A T 5: 87,402,217 (GRCm39) M138K probably damaging Het
Uimc1 A T 13: 55,223,646 (GRCm39) F209I possibly damaging Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Wdr91 A T 6: 34,861,302 (GRCm39) N633K possibly damaging Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P 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
IGL01613:Bpnt1 APN 1 185,086,191 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- AACTGTGCCTTTCCCAAGTC -3'
(R):5'- GACAGCCAAACTAAGATCTTGTG -3'

Sequencing Primer
(F):5'- GCCTTTCCCAAGTCGTTTTAGTGTG -3'
(R):5'- AGTACCTTCTGCACGATG -3'
Posted On 2022-05-16