Incidental Mutation 'R4288:Bpnt2'
ID 322095
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 041653-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4288 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 4762484-4793306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4778231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 169 (V169G)
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
AlphaFold Q80V26
Predicted Effect probably damaging
Transcript: ENSMUST00000084949
AA Change: V169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324
AA Change: V169G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Inositol_P 60 353 1.5e-42 PFAM
Meta Mutation Damage Score 0.8929 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (34/35)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd G A 1: 127,666,309 (GRCm39) V27M probably damaging Het
Acsl6 A G 11: 54,227,912 (GRCm39) T311A probably benign Het
Adss2 G A 1: 177,604,078 (GRCm39) R176W probably damaging Het
Akr7a5 T C 4: 139,041,415 (GRCm39) V108A probably benign Het
Atp13a1 A G 8: 70,246,728 (GRCm39) D209G possibly damaging Het
Cdcp1 T A 9: 123,012,693 (GRCm39) I285F probably damaging Het
Ctnna2 C T 6: 77,582,204 (GRCm39) R339Q probably damaging Het
E130308A19Rik G A 4: 59,690,308 (GRCm39) M47I probably benign Het
Exosc9 C T 3: 36,617,365 (GRCm39) T373I probably benign Het
Fat4 T A 3: 38,945,912 (GRCm39) S1602T probably damaging Het
Fbn2 T C 18: 58,168,411 (GRCm39) I2309V probably damaging Het
Fbxo42 T C 4: 140,895,207 (GRCm39) Y57H probably damaging Het
Fcrl5 A G 3: 87,349,531 (GRCm39) D102G probably benign Het
Garin5b T A 7: 4,773,722 (GRCm39) N58Y possibly damaging Het
Gpr37l1 A G 1: 135,088,922 (GRCm39) V381A probably damaging Het
Hc G T 2: 34,920,414 (GRCm39) A644E probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Lpar5 T C 6: 125,058,827 (GRCm39) Y183H probably benign Het
Ltn1 T A 16: 87,194,876 (GRCm39) N1341I possibly damaging Het
Mms19 A G 19: 41,933,992 (GRCm39) L938P probably damaging Het
Neb T G 2: 52,149,312 (GRCm39) E2516D probably damaging Het
Parp4 T C 14: 56,844,951 (GRCm39) V614A probably damaging Het
Pogk A G 1: 166,231,075 (GRCm39) L84P probably damaging Het
Stard13 G A 5: 150,968,642 (GRCm39) T994M probably damaging Het
Stk4 A G 2: 163,941,632 (GRCm39) S283G probably benign Het
Ttn T C 2: 76,640,742 (GRCm39) T13669A probably benign Het
Vil1 A G 1: 74,457,684 (GRCm39) T106A probably benign Het
Vmn1r18 A G 6: 57,367,392 (GRCm39) L54P probably damaging Het
Vmn1r227 G T 17: 20,956,092 (GRCm39) noncoding transcript Het
Zfp267 A G 3: 36,213,747 (GRCm39) N27S possibly damaging Het
Zfp748 T A 13: 67,689,202 (GRCm39) H686L probably damaging Het
Zyg11a C T 4: 108,041,666 (GRCm39) S658N probably 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
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
Predicted Primers PCR Primer
(F):5'- GTAAGAGGACTACACTATGGTATGG -3'
(R):5'- GCCTATATTTGGGGCGTCAG -3'

Sequencing Primer
(F):5'- GACTACACTATGGTATGGGAAGG -3'
(R):5'- GGGCGTCAGTTTTTATTAACCAAAAC -3'
Posted On 2015-06-20