Incidental Mutation 'IGL00843:Bpnt2'
ID 11458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpnt2
Ensembl Gene ENSMUSG00000066324
Gene Name 3'(2'), 5'-bisphosphate nucleotidase 2
Synonyms gPAPP, Impad1, 1110001C20Rik, Jaws
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00843
Quality Score
Status
Chromosome 4
Chromosomal Location 4762484-4793306 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 4776308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
AlphaFold Q80V26
Predicted Effect probably benign
Transcript: ENSMUST00000084949
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Inositol_P 60 353 1.5e-42 PFAM
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,291,657 (GRCm39) probably null Het
Clcn2 T C 16: 20,522,391 (GRCm39) T772A probably benign Het
Cldn18 A T 9: 99,580,874 (GRCm39) F125I probably benign Het
Ehhadh A G 16: 21,581,379 (GRCm39) S538P possibly damaging Het
Ets2 T G 16: 95,510,837 (GRCm39) F32V probably benign Het
F5 G A 1: 164,039,360 (GRCm39) R1990Q probably benign Het
Fetub A G 16: 22,748,379 (GRCm39) probably benign Het
Hecw1 C T 13: 14,422,158 (GRCm39) E983K probably benign Het
Hemgn A G 4: 46,396,240 (GRCm39) M332T probably benign Het
Hmcn1 A G 1: 150,486,464 (GRCm39) I4314T possibly damaging Het
Lonrf2 C A 1: 38,851,616 (GRCm39) probably benign Het
Lrrc9 T C 12: 72,510,191 (GRCm39) I430T possibly damaging Het
Lrrk2 T C 15: 91,641,261 (GRCm39) V1606A possibly damaging Het
Oog2 G T 4: 143,921,742 (GRCm39) L217F probably damaging Het
Plxnc1 T C 10: 94,683,411 (GRCm39) H791R probably benign Het
Prdm2 G A 4: 142,860,884 (GRCm39) S802L probably damaging Het
Prss32 T A 17: 24,076,336 (GRCm39) L233Q probably damaging Het
Rapgef6 T A 11: 54,582,099 (GRCm39) V1337E probably benign Het
Slc15a3 T A 19: 10,830,627 (GRCm39) M326K probably null Het
Slc25a54 A T 3: 109,020,176 (GRCm39) T397S possibly damaging Het
Slfn3 C T 11: 83,104,257 (GRCm39) T376M probably damaging Het
Stradb T A 1: 59,033,568 (GRCm39) D410E probably benign Het
Tdh T C 14: 63,733,213 (GRCm39) T178A probably damaging Het
Tspan12 T A 6: 21,851,081 (GRCm39) probably benign Het
Ube2b A T 11: 51,886,202 (GRCm39) D50E probably benign Het
Zranb1 A C 7: 132,551,622 (GRCm39) H117P probably benign Het
Other mutations in Bpnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7756:Bpnt2 UTSW 4 4,769,385 (GRCm39) missense probably damaging 1.00
R8480:Bpnt2 UTSW 4 4,769,376 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06