Incidental Mutation 'R5333:Bpnt2'
ID 423339
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 042915-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5333 (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 4767963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 271 (V271G)
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
AlphaFold Q80V26
Predicted Effect possibly damaging
Transcript: ENSMUST00000084949
AA Change: V271G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324
AA Change: V271G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Inositol_P 60 353 1.5e-42 PFAM
Meta Mutation Damage Score 0.7567 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abca14 T A 7: 119,888,769 (GRCm39) Y1238* probably null Het
Abcb5 A T 12: 118,831,677 (GRCm39) V1225D probably damaging Het
Arhgef15 A G 11: 68,838,022 (GRCm39) probably benign Het
As3mt A G 19: 46,696,635 (GRCm39) R58G probably null Het
Asap1 T G 15: 63,999,263 (GRCm39) N525T possibly damaging Het
Bhmt2 A G 13: 93,807,938 (GRCm39) V50A probably benign Het
Ccdc180 A T 4: 45,890,935 (GRCm39) I36F possibly damaging Het
Cd209c A G 8: 3,994,976 (GRCm39) S63P probably damaging Het
Cdc37 T C 9: 21,054,457 (GRCm39) E56G possibly damaging Het
Cdkal1 T C 13: 29,510,135 (GRCm39) Y541C probably benign Het
Cenph G T 13: 100,898,280 (GRCm39) H208N probably benign Het
Cfap65 A T 1: 74,942,334 (GRCm39) L1740Q probably benign Het
Cfap74 A G 4: 155,521,197 (GRCm39) D623G probably damaging Het
Ckap4 C A 10: 84,363,474 (GRCm39) V530L probably damaging Het
Cldn13 A T 5: 134,943,869 (GRCm39) N105K probably benign Het
Ddn T C 15: 98,703,237 (GRCm39) D685G possibly damaging Het
Fdxr T C 11: 115,163,084 (GRCm39) I70V probably benign Het
Fn1 A T 1: 71,663,339 (GRCm39) Y1050N probably damaging Het
Iqcf3 A G 9: 106,430,860 (GRCm39) I96T possibly damaging Het
Itgax A G 7: 127,741,455 (GRCm39) Y822C probably damaging Het
Katnb1 A T 8: 95,822,234 (GRCm39) I286L possibly damaging Het
Lrp2 A C 2: 69,355,572 (GRCm39) I424R probably benign Het
Lrpprc C A 17: 85,097,821 (GRCm39) A41S probably benign Het
Mast3 A G 8: 71,236,145 (GRCm39) L761P probably benign Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpp4 C A 1: 59,196,600 (GRCm39) R44L probably benign Het
Nalf1 T A 8: 9,820,762 (GRCm39) Q86L possibly damaging Het
Nkain3 T A 4: 20,484,889 (GRCm39) M63L probably benign Het
Nup88 A C 11: 70,835,842 (GRCm39) probably benign Het
Obscn A T 11: 58,953,518 (GRCm39) C3837S probably damaging Het
Ogdh T G 11: 6,302,126 (GRCm39) L850V probably damaging Het
Or4f17-ps1 A G 2: 111,358,048 (GRCm39) I148V probably benign Het
Or5w11 A G 2: 87,459,458 (GRCm39) Y217C probably damaging Het
Panx2 T C 15: 88,952,742 (GRCm39) I411T possibly damaging Het
Papss1 T A 3: 131,348,805 (GRCm39) M585K probably damaging Het
Pcbp2 T G 15: 102,394,456 (GRCm39) L180R possibly damaging Het
Pcdha7 A T 18: 37,107,619 (GRCm39) T215S probably benign Het
Pcdhga4 C T 18: 37,818,477 (GRCm39) R9C probably benign Het
Plin4 A G 17: 56,411,970 (GRCm39) V687A probably benign Het
Potefam1 A T 2: 111,024,682 (GRCm39) Y61N possibly damaging Het
Psma6 A G 12: 55,454,213 (GRCm39) probably benign Het
Rcn1 A T 2: 105,219,471 (GRCm39) S241T probably benign Het
Scgb2b18 A T 7: 32,872,700 (GRCm39) L35H probably damaging Het
Slc11a1 A C 1: 74,423,304 (GRCm39) D385A probably damaging Het
Stk31 T A 6: 49,446,086 (GRCm39) C930S probably benign Het
Syt10 T A 15: 89,725,932 (GRCm39) Q14L probably benign Het
Tnxb T G 17: 34,909,205 (GRCm39) W1578G probably damaging Het
Triml1 C T 8: 43,583,327 (GRCm39) A425T possibly damaging Het
Vil1 G A 1: 74,471,549 (GRCm39) V777I probably benign Het
Vmn1r175 T C 7: 23,508,004 (GRCm39) I208V 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
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'- TGCCATCAGACCCAGTGTAAC -3'
(R):5'- GACCGGCTTGCTGAAATTG -3'

Sequencing Primer
(F):5'- AACTGATCTCTTCTCCATTCAGAGTG -3'
(R):5'- CCGGCTTGCTGAAATTGAGAATAGC -3'
Posted On 2016-08-04