Incidental Mutation 'R2224:Inpp1'
Institutional Source Beutler Lab
Gene Symbol Inpp1
Ensembl Gene ENSMUSG00000026102
Gene Nameinositol polyphosphate-1-phosphatase
MMRRC Submission 040225-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2224 (G1)
Quality Score225
Status Not validated
Chromosomal Location52785427-52817688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52790131 bp
Amino Acid Change Glutamic Acid to Valine at position 243 (E243V)
Ref Sequence ENSEMBL: ENSMUSP00000027271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027271] [ENSMUST00000162576] [ENSMUST00000177279]
Predicted Effect probably benign
Transcript: ENSMUST00000027271
AA Change: E243V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027271
Gene: ENSMUSG00000026102
AA Change: E243V

Pfam:Inositol_P 56 378 5.4e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159607
Predicted Effect probably benign
Transcript: ENSMUST00000162576
SMART Domains Protein: ENSMUSP00000124890
Gene: ENSMUSG00000026102

PDB:1INP|A 1 90 8e-43 PDB
SCOP:d1inp__ 1 90 5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177279
SMART Domains Protein: ENSMUSP00000135225
Gene: ENSMUSG00000026102

PDB:1INP|A 1 68 8e-27 PDB
SCOP:d1inp__ 1 68 1e-31 SMART
low complexity region 71 90 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a targeted allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T G 16: 14,472,068 L1416R probably damaging Het
Aen C A 7: 78,902,451 T15K probably benign Het
Ahnak G A 19: 9,012,991 probably benign Het
Ar T A X: 98,151,331 M517K probably benign Het
Arsb T A 13: 93,794,171 F216I probably damaging Het
Atg9b A G 5: 24,386,395 V735A possibly damaging Het
BC051142 C A 17: 34,448,763 probably null Het
Brinp3 C T 1: 146,901,920 Q702* probably null Het
Btbd9 C A 17: 30,527,346 A169S probably damaging Het
Cacna1h T C 17: 25,385,943 N1132S probably benign Het
Ccdc33 A G 9: 58,082,022 S123P probably damaging Het
Cep250 A C 2: 155,991,817 E1886D possibly damaging Het
Chd9 A C 8: 91,011,285 H1515P probably benign Het
Cyp2c68 A G 19: 39,735,582 C213R probably benign Het
Ddx41 G A 13: 55,531,401 T544I probably damaging Het
Dgkk T A X: 6,875,248 D102E probably damaging Het
Eea1 T A 10: 96,020,012 V637D probably damaging Het
Emcn T C 3: 137,404,017 I140T possibly damaging Het
Exo1 A G 1: 175,886,688 probably null Het
Fbxo21 T G 5: 118,008,123 Y597D probably damaging Het
Fbxw20 G C 9: 109,233,582 Q59E possibly damaging Het
Fpr3 T A 17: 17,971,193 V242D probably damaging Het
Fyb A G 15: 6,652,383 Y737C probably damaging Het
Gm17661 GG GGG 2: 90,917,708 noncoding transcript Het
Gm4985 T A X: 23,958,934 M1L probably null Het
Hdac9 C T 12: 34,407,802 V251I probably benign Het
Hoxa10 T C 6: 52,232,636 E52G probably damaging Het
Il17f A G 1: 20,779,375 V55A probably damaging Het
Leap2 A G 11: 53,422,807 L46P probably damaging Het
Map4k3 A T 17: 80,630,454 D339E probably benign Het
Met A G 6: 17,563,722 probably null Het
Mgam G T 6: 40,764,274 probably null Het
Mrgpra1 A G 7: 47,335,106 V275A possibly damaging Het
Mrgprx2 T A 7: 48,482,860 Q70L probably benign Het
Mtus1 C T 8: 41,082,775 V635M probably damaging Het
Mup18 G T 4: 61,671,891 F133L possibly damaging Het
Naalad2 A T 9: 18,376,533 V267E possibly damaging Het
Nin A T 12: 70,061,230 I196N probably damaging Het
Nkpd1 A T 7: 19,519,820 Y37F probably benign Het
Odc1 A G 12: 17,547,335 I13V probably benign Het
Olfr1024 T A 2: 85,904,755 I100F probably benign Het
Olfr1200 A T 2: 88,767,586 M243K possibly damaging Het
Olfr1377 T C 11: 50,985,232 F177S probably damaging Het
Pard3 A G 8: 127,359,776 I286V probably damaging Het
Pcx T C 19: 4,617,998 I516T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 R1081L probably benign Het
Prpf40b C T 15: 99,303,291 probably benign Het
Rnmt C T 18: 68,305,783 probably benign Het
Sfxn1 A G 13: 54,085,517 T20A possibly damaging Het
Sirt2 A G 7: 28,772,212 probably null Het
Spata31d1a T A 13: 59,703,715 I200L probably benign Het
Spin2g A T X: 34,237,275 I171N possibly damaging Het
Tex45 A G 8: 3,479,249 T245A probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Uqcrc2 T A 7: 120,641,714 V73E probably damaging Het
Vmn2r100 A G 17: 19,522,372 K336R probably benign Het
Vmn2r108 A T 17: 20,481,033 Y68* probably null Het
Zbtb4 C T 11: 69,776,358 T163I probably benign Het
Other mutations in Inpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03343:Inpp1 APN 1 52799327 missense probably damaging 1.00
R0344:Inpp1 UTSW 1 52799354 missense probably damaging 1.00
R1356:Inpp1 UTSW 1 52797056 missense possibly damaging 0.95
R1465:Inpp1 UTSW 1 52790094 missense probably benign
R1465:Inpp1 UTSW 1 52790094 missense probably benign
R1907:Inpp1 UTSW 1 52789670 makesense probably null
R1954:Inpp1 UTSW 1 52794629 missense probably damaging 1.00
R2033:Inpp1 UTSW 1 52790173 missense possibly damaging 0.71
R2104:Inpp1 UTSW 1 52799418 missense probably damaging 1.00
R3508:Inpp1 UTSW 1 52799391 missense probably damaging 1.00
R4682:Inpp1 UTSW 1 52794601 missense probably benign 0.00
R5252:Inpp1 UTSW 1 52794547 missense probably benign 0.00
R5590:Inpp1 UTSW 1 52794661 missense probably damaging 0.96
R6354:Inpp1 UTSW 1 52797065 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-15