Incidental Mutation 'R7756:Bpnt2'
ID 597539
Institutional Source Beutler Lab
Gene Symbol Bpnt2
Ensembl Gene ENSMUSG00000066324
Gene Name 3'(2'), 5'-bisphosphate nucleotidase 2
Synonyms gPAPP, Impad1, 1110001C20Rik, Jaws
MMRRC Submission 045812-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7756 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 4762484-4793306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4769385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 243 (H243Q)
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
AlphaFold Q80V26
Predicted Effect probably damaging
Transcript: ENSMUST00000084949
AA Change: H243Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324
AA Change: H243Q

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Inositol_P 60 353 1.5e-42 PFAM
Meta Mutation Damage Score 0.6973 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutants are neonatal lethal with growth retardation. Mutant embryo shows craniofacial abnormalities and shortened limbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 T C 2: 173,410,562 (GRCm39) *319W probably null Het
Brd4 A G 17: 32,417,956 (GRCm39) I1157T unknown Het
Btbd2 T C 10: 80,484,440 (GRCm39) I159V probably benign Het
Card6 G A 15: 5,129,378 (GRCm39) Q673* probably null Het
Cdyl T A 13: 36,056,624 (GRCm39) Y585N probably damaging Het
Cep192 A C 18: 67,989,384 (GRCm39) I1844L possibly damaging Het
Cfap99 G T 5: 34,459,952 (GRCm39) C105F probably damaging Het
Clcn6 T C 4: 148,113,896 (GRCm39) D54G probably damaging Het
Dennd5a T C 7: 109,520,714 (GRCm39) N381S possibly damaging Het
Disp1 A C 1: 182,871,298 (GRCm39) V374G probably damaging Het
Dock4 C T 12: 40,760,878 (GRCm39) T522I probably benign Het
Fcer1a A G 1: 173,049,142 (GRCm39) L223P probably damaging Het
Fstl4 C A 11: 53,059,123 (GRCm39) D527E possibly damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gm5460 A T 14: 33,757,114 (GRCm39) T64S probably benign Het
Gys1 T C 7: 45,097,726 (GRCm39) V491A probably benign Het
Hoxa9 A T 6: 52,202,542 (GRCm39) N181K probably benign Het
Ift81 A T 5: 122,689,088 (GRCm39) L676H probably damaging Het
Inava A G 1: 136,144,171 (GRCm39) S422P probably benign Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Lin7c T A 2: 109,726,717 (GRCm39) I122K probably damaging Het
Malt1 A G 18: 65,606,190 (GRCm39) I622V probably benign Het
Megf8 T C 7: 25,041,850 (GRCm39) probably null Het
Morc2b A G 17: 33,355,981 (GRCm39) V597A probably damaging Het
Nr1h5 T C 3: 102,856,925 (GRCm39) I196V probably benign Het
Or10d4 T C 9: 39,580,371 (GRCm39) M6T probably benign Het
Or2a20 T A 6: 43,193,950 (GRCm39) Y34* probably null Het
Or8g2 T G 9: 39,821,621 (GRCm39) I174S possibly damaging Het
Pdlim1 G A 19: 40,231,986 (GRCm39) P131S probably benign Het
Plekhh1 T C 12: 79,117,578 (GRCm39) I858T probably benign Het
Pls1 T C 9: 95,658,897 (GRCm39) N197S probably benign Het
Pnma8a A T 7: 16,695,224 (GRCm39) T360S probably benign Het
Pon1 A T 6: 5,168,344 (GRCm39) D354E probably benign Het
Rbp3 G A 14: 33,676,732 (GRCm39) V227M probably benign Het
Shcbp1 T C 8: 4,794,545 (GRCm39) K416R probably damaging Het
Slc20a2 T G 8: 23,025,508 (GRCm39) I70S probably damaging Het
Slc7a11 A G 3: 50,326,809 (GRCm39) I484T probably benign Het
Snrpa A G 7: 26,892,371 (GRCm39) V63A possibly damaging Het
Stat2 CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC 10: 128,126,597 (GRCm39) probably benign Het
Strc T C 2: 121,201,427 (GRCm39) E1259G probably benign Het
Suds3 T G 5: 117,253,802 (GRCm39) D26A unknown Het
Tnrc18 A G 5: 142,772,907 (GRCm39) S641P Het
Tspan32 A G 7: 142,570,959 (GRCm39) N189D probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Usp40 G T 1: 87,894,922 (GRCm39) T866K probably damaging Het
Vmn1r220 G A 13: 23,367,877 (GRCm39) T273I probably benign Het
Yes1 C T 5: 32,842,024 (GRCm39) T516I probably damaging Het
Zbtb4 A G 11: 69,669,368 (GRCm39) E697G probably benign Het
Zfp994 T C 17: 22,419,828 (GRCm39) T374A possibly damaging Het
Other mutations in Bpnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Bpnt2 APN 4 4,776,308 (GRCm39) splice site probably benign
IGL02609:Bpnt2 APN 4 4,767,763 (GRCm39) nonsense probably null
R1651:Bpnt2 UTSW 4 4,792,737 (GRCm39) missense probably damaging 1.00
R2571:Bpnt2 UTSW 4 4,778,192 (GRCm39) critical splice donor site probably null
R4288:Bpnt2 UTSW 4 4,778,231 (GRCm39) missense probably damaging 1.00
R4603:Bpnt2 UTSW 4 4,767,878 (GRCm39) missense probably damaging 1.00
R5333:Bpnt2 UTSW 4 4,767,963 (GRCm39) missense possibly damaging 0.92
R5365:Bpnt2 UTSW 4 4,776,385 (GRCm39) missense probably damaging 1.00
R7275:Bpnt2 UTSW 4 4,792,962 (GRCm39) missense probably damaging 0.98
R7599:Bpnt2 UTSW 4 4,778,207 (GRCm39) missense probably damaging 1.00
R8480:Bpnt2 UTSW 4 4,769,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTTATTTTGTGCCCAAGC -3'
(R):5'- GACACAGGAAATTTAGAGGCTTTG -3'

Sequencing Primer
(F):5'- GCCCAAGCATGAGACAAATAATTTAG -3'
(R):5'- AGAGGCTTTGTTTCATACACTCTTG -3'
Posted On 2019-11-26