Incidental Mutation 'R2224:Inpp1'
ID 241525
Institutional Source Beutler Lab
Gene Symbol Inpp1
Ensembl Gene ENSMUSG00000026102
Gene Name inositol polyphosphate-1-phosphatase
Synonyms 2300002C06Rik
MMRRC Submission 040225-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2224 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 52824586-52856847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52829290 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P49442
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 14,289,932 (GRCm39) L1416R probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Ahnak G A 19: 8,990,355 (GRCm39) probably benign Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Arsb T A 13: 93,930,679 (GRCm39) F216I probably damaging Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Brinp3 C T 1: 146,777,658 (GRCm39) Q702* probably null Het
Btbd9 C A 17: 30,746,320 (GRCm39) A169S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep250 A C 2: 155,833,737 (GRCm39) E1886D possibly damaging Het
Chd9 A C 8: 91,737,913 (GRCm39) H1515P probably benign Het
Cyp2c68 A G 19: 39,724,026 (GRCm39) C213R probably benign Het
Ddx41 G A 13: 55,679,214 (GRCm39) T544I probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Eea1 T A 10: 95,855,874 (GRCm39) V637D probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Exo1 A G 1: 175,714,254 (GRCm39) probably null Het
Fbxo21 T G 5: 118,146,188 (GRCm39) Y597D probably damaging Het
Fbxw20 G C 9: 109,062,650 (GRCm39) Q59E possibly damaging Het
Fpr3 T A 17: 18,191,455 (GRCm39) V242D probably damaging Het
Fyb1 A G 15: 6,681,864 (GRCm39) Y737C probably damaging Het
Gm17661 GG GGG 2: 90,748,052 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Il17f A G 1: 20,849,599 (GRCm39) V55A probably damaging Het
Leap2 A G 11: 53,313,634 (GRCm39) L46P probably damaging Het
Map4k3 A T 17: 80,937,883 (GRCm39) D339E probably benign Het
Met A G 6: 17,563,721 (GRCm39) probably null Het
Mgam G T 6: 40,741,208 (GRCm39) probably null Het
Mrgpra1 A G 7: 46,984,854 (GRCm39) V275A possibly damaging Het
Mrgprx2 T A 7: 48,132,608 (GRCm39) Q70L probably benign Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Mup18 G T 4: 61,590,128 (GRCm39) F133L possibly damaging Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nin A T 12: 70,108,004 (GRCm39) I196N probably damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Odc1 A G 12: 17,597,336 (GRCm39) I13V probably benign Het
Or1ad1 T C 11: 50,876,059 (GRCm39) F177S probably damaging Het
Or4a67 A T 2: 88,597,930 (GRCm39) M243K possibly damaging Het
Or5m12 T A 2: 85,735,099 (GRCm39) I100F probably benign Het
Pard3 A G 8: 128,086,257 (GRCm39) I286V probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 (GRCm39) R1081L probably benign Het
Prpf40b C T 15: 99,201,172 (GRCm39) probably benign Het
Rnmt C T 18: 68,438,854 (GRCm39) probably benign Het
Saxo5 A G 8: 3,529,249 (GRCm39) T245A probably benign Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Sirt2 A G 7: 28,471,637 (GRCm39) probably null Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tsbp1 C A 17: 34,667,737 (GRCm39) probably null Het
Uqcrc2 T A 7: 120,240,937 (GRCm39) V73E probably damaging Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zbtb4 C T 11: 69,667,184 (GRCm39) T163I probably benign Het
Other mutations in Inpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03343:Inpp1 APN 1 52,838,486 (GRCm39) missense probably damaging 1.00
R0344:Inpp1 UTSW 1 52,838,513 (GRCm39) missense probably damaging 1.00
R1356:Inpp1 UTSW 1 52,836,215 (GRCm39) missense possibly damaging 0.95
R1465:Inpp1 UTSW 1 52,829,253 (GRCm39) missense probably benign
R1465:Inpp1 UTSW 1 52,829,253 (GRCm39) missense probably benign
R1907:Inpp1 UTSW 1 52,828,829 (GRCm39) makesense probably null
R1954:Inpp1 UTSW 1 52,833,788 (GRCm39) missense probably damaging 1.00
R2033:Inpp1 UTSW 1 52,829,332 (GRCm39) missense possibly damaging 0.71
R2104:Inpp1 UTSW 1 52,838,577 (GRCm39) missense probably damaging 1.00
R3508:Inpp1 UTSW 1 52,838,550 (GRCm39) missense probably damaging 1.00
R4682:Inpp1 UTSW 1 52,833,760 (GRCm39) missense probably benign 0.00
R5252:Inpp1 UTSW 1 52,833,706 (GRCm39) missense probably benign 0.00
R5590:Inpp1 UTSW 1 52,833,820 (GRCm39) missense probably damaging 0.96
R6354:Inpp1 UTSW 1 52,836,224 (GRCm39) missense probably damaging 1.00
R9196:Inpp1 UTSW 1 52,833,778 (GRCm39) missense probably damaging 1.00
R9255:Inpp1 UTSW 1 52,829,306 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGAGTCCCACTTGTACGTG -3'
(R):5'- AAGTTCGTTTATAGGCTCAGGAG -3'

Sequencing Primer
(F):5'- CCTCTGAGAAGATGTAAATGTCAGCC -3'
(R):5'- CTCAGGAGCATTAAAACTCATTTTGC -3'
Posted On 2014-10-15