Incidental Mutation 'R7591:Impa2'
ID 587426
Institutional Source Beutler Lab
Gene Symbol Impa2
Ensembl Gene ENSMUSG00000024525
Gene Name inositol monophosphatase 2
Synonyms 2210415D20Rik, inositol (myo)-1(or 4)-monophosphatase 2
MMRRC Submission 045638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R7591 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67422246-67454375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67451480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 258 (L258P)
Ref Sequence ENSEMBL: ENSMUSP00000025403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025403]
AlphaFold Q91UZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000025403
AA Change: L258P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025403
Gene: ENSMUSG00000024525
AA Change: L258P

Pfam:Inositol_P 18 284 7.6e-84 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null gene trap mutation do not exhibit an overt mutant phenotype. Male mice homozygous for a knock-out alle exhibit increased prepulse inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccne2 T C 4: 11,201,393 (GRCm39) I307T probably benign Het
Chrm3 A T 13: 9,927,349 (GRCm39) C562* probably null Het
Cldn11 A T 3: 31,204,436 (GRCm39) E46D probably benign Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dbh A G 2: 27,060,522 (GRCm39) T233A probably damaging Het
Dennd2c T A 3: 103,040,661 (GRCm39) Y309N possibly damaging Het
Dnttip2 T A 3: 122,070,117 (GRCm39) L444* probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epop A T 11: 97,519,158 (GRCm39) V317E probably damaging Het
Eppk1 T C 15: 75,991,797 (GRCm39) T1695A possibly damaging Het
Fam149a T A 8: 45,803,472 (GRCm39) I421F possibly damaging Het
Itga1 G A 13: 115,119,315 (GRCm39) R855W probably damaging Het
Kcnh5 T C 12: 75,054,541 (GRCm39) T468A probably benign Het
Kif11 A G 19: 37,372,711 (GRCm39) K33R probably damaging Het
Lamb1 C A 12: 31,376,647 (GRCm39) A1657E probably damaging Het
Macc1 T C 12: 119,410,393 (GRCm39) V387A probably damaging Het
Nalcn T C 14: 123,561,297 (GRCm39) T734A probably benign Het
Nphp3 T C 9: 103,895,477 (GRCm39) probably null Het
Nutm2 A G 13: 50,627,903 (GRCm39) I461M probably damaging Het
Or14p1 T C 13: 65,292,462 (GRCm39) F130L probably benign Het
Or4p7 G A 2: 88,222,220 (GRCm39) V210M probably benign Het
Or4s2 A C 2: 88,473,811 (GRCm39) K233N probably damaging Het
Or5b112 A G 19: 13,319,619 (GRCm39) S166G probably benign Het
Pigo T C 4: 43,025,093 (GRCm39) N2S probably benign Het
Plcl1 A T 1: 55,736,608 (GRCm39) I650L probably benign Het
Ppcdc A T 9: 57,342,262 (GRCm39) V20D probably damaging Het
Pramel27 A T 4: 143,577,481 (GRCm39) I88L probably benign Het
Rhobtb2 A G 14: 70,037,190 (GRCm39) V78A possibly damaging Het
Rp1l1 T C 14: 64,263,558 (GRCm39) V226A probably damaging Het
Scrt1 C A 15: 76,403,694 (GRCm39) G99C probably damaging Het
Skint9 A T 4: 112,248,147 (GRCm39) I199N probably damaging Het
Slc5a4a T C 10: 75,983,501 (GRCm39) probably benign Het
Smad3 C T 9: 63,561,999 (GRCm39) W326* probably null Het
Spata18 A T 5: 73,829,759 (GRCm39) I305F Het
Spata31h1 C A 10: 82,128,046 (GRCm39) V1655F probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syne3 A G 12: 104,906,863 (GRCm39) probably null Het
Trim69 G A 2: 121,998,454 (GRCm39) R142Q probably benign Het
Vmn1r40 A T 6: 89,691,755 (GRCm39) I191F probably benign Het
Vmn2r16 T A 5: 109,510,223 (GRCm39) D535E probably damaging Het
Vwa5b2 A G 16: 20,420,317 (GRCm39) E742G probably damaging Het
Zfp442 A T 2: 150,250,092 (GRCm39) Y603* probably null Het
Zp1 T C 19: 10,896,835 (GRCm39) N68S probably damaging Het
Other mutations in Impa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1137:Impa2 UTSW 18 67,451,497 (GRCm39) missense probably benign
R5054:Impa2 UTSW 18 67,439,797 (GRCm39) missense probably damaging 1.00
R6030:Impa2 UTSW 18 67,451,498 (GRCm39) missense probably benign 0.36
R6030:Impa2 UTSW 18 67,451,498 (GRCm39) missense probably benign 0.36
R7271:Impa2 UTSW 18 67,439,806 (GRCm39) missense probably damaging 1.00
R8968:Impa2 UTSW 18 67,451,497 (GRCm39) missense probably benign
R9179:Impa2 UTSW 18 67,422,473 (GRCm39) start gained probably benign
Z1177:Impa2 UTSW 18 67,442,122 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24