Incidental Mutation 'R1137:Impa2'
ID 95244
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 039210-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R1137 (G1)
Quality Score 183
Status Not validated
Chromosome 18
Chromosomal Location 67422246-67454375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67451497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 264 (V264I)
Ref Sequence ENSEMBL: ENSMUSP00000025403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025403]
AlphaFold Q91UZ5
Predicted Effect probably benign
Transcript: ENSMUST00000025403
AA Change: V264I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025403
Gene: ENSMUSG00000024525
AA Change: V264I

DomainStartEndE-ValueType
Pfam:Inositol_P 18 284 7.6e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145081
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,256 (GRCm39) S54T probably benign Het
Ahdc1 A G 4: 132,789,424 (GRCm39) T222A possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Cep250 A G 2: 155,832,760 (GRCm39) K1561E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Clca4a A G 3: 144,676,446 (GRCm39) V78A probably damaging Het
Clec4n G A 6: 123,223,526 (GRCm39) M170I possibly damaging Het
Cp G T 3: 20,033,116 (GRCm39) A648S probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dnah8 A G 17: 31,074,910 (GRCm39) D4543G probably damaging Het
Elp3 A G 14: 65,785,370 (GRCm39) V477A probably damaging Het
Exoc6b A G 6: 84,885,205 (GRCm39) S245P probably benign Het
Fkbp9 G T 6: 56,837,682 (GRCm39) G312V probably damaging Het
Htr4 A G 18: 62,570,624 (GRCm39) I226M probably damaging Het
Kif20b T C 19: 34,914,486 (GRCm39) probably null Het
Kmt2c C A 5: 25,515,981 (GRCm39) V2621F possibly damaging Het
Lif A G 11: 4,219,237 (GRCm39) D172G probably damaging Het
Llgl1 C A 11: 60,595,559 (GRCm39) H82N probably benign Het
Lrwd1 T C 5: 136,162,273 (GRCm39) I162M probably benign Het
Mdn1 T A 4: 32,694,511 (GRCm39) I1078N probably damaging Het
Muc1 A T 3: 89,137,745 (GRCm39) T196S probably benign Het
Myh7b T C 2: 155,464,634 (GRCm39) L657P probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Ppp1cb T C 5: 32,645,015 (GRCm39) M55T probably damaging Het
Ppp1r9a T C 6: 5,159,697 (GRCm39) M1078T possibly damaging Het
Rarg T C 15: 102,149,595 (GRCm39) T125A probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Slc5a7 G A 17: 54,600,039 (GRCm39) R125C probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tigit G T 16: 43,469,485 (GRCm39) T202N probably benign Het
Tmem132b C T 5: 125,860,606 (GRCm39) A617V possibly damaging Het
Tpm1 T C 9: 66,938,400 (GRCm39) probably null Het
Ubr3 A G 2: 69,768,659 (GRCm39) probably benign Het
Vcan T A 13: 89,852,422 (GRCm39) D846V probably damaging Het
Vmn1r16 T G 6: 57,300,221 (GRCm39) N134H probably damaging Het
Other mutations in Impa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7591:Impa2 UTSW 18 67,451,480 (GRCm39) missense probably damaging 0.97
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
(F):5'- AGGGTAGGTATCAAGAGCCACCAC -3'
(R):5'- ATCAGCTAAGCACCGAGGCAAG -3'

Sequencing Primer
(F):5'- GTATCAAGAGCCACCACACCTC -3'
(R):5'- CCCAGGGAGAGCTATGGTAG -3'
Posted On 2014-01-05