Incidental Mutation 'R5252:Inpp1'
ID 399072
Institutional Source Beutler Lab
Gene Symbol Inpp1
Ensembl Gene ENSMUSG00000026102
Gene Name inositol polyphosphate-1-phosphatase
Synonyms 2300002C06Rik
MMRRC Submission 042823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5252 (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 G at 52833706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 130 (D130A)
Ref Sequence ENSEMBL: ENSMUSP00000027271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027271] [ENSMUST00000159725] [ENSMUST00000162576] [ENSMUST00000177279]
AlphaFold P49442
Predicted Effect probably benign
Transcript: ENSMUST00000027271
AA Change: D130A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027271
Gene: ENSMUSG00000026102
AA Change: D130A

DomainStartEndE-ValueType
Pfam:Inositol_P 56 378 5.4e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159607
Predicted Effect probably benign
Transcript: ENSMUST00000159725
SMART Domains Protein: ENSMUSP00000123977
Gene: ENSMUSG00000026102

DomainStartEndE-ValueType
PDB:1INP|A 1 80 4e-36 PDB
SCOP:d1inp__ 1 80 8e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162351
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 unknown
Transcript: ENSMUST00000177279
AA Change: T110P
SMART Domains Protein: ENSMUSP00000135225
Gene: ENSMUSG00000026102
AA Change: T110P

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: 97.0%
  • 20x: 94.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,056,762 (GRCm39) R386L probably damaging Het
Ano8 A T 8: 71,935,261 (GRCm39) Y346N probably damaging Het
Cabp4 T C 19: 4,186,067 (GRCm39) probably benign Het
Canx A T 11: 50,199,621 (GRCm39) I148N probably damaging Het
Ccdc141 A G 2: 76,962,593 (GRCm39) V117A probably benign Het
Cdk12 A T 11: 98,134,335 (GRCm39) N1078Y unknown Het
Cdk7 T A 13: 100,866,968 (GRCm39) K42* probably null Het
Col6a5 T C 9: 105,817,489 (GRCm39) D274G unknown Het
Cux1 T C 5: 136,337,151 (GRCm39) E696G probably damaging Het
Cxxc1 C T 18: 74,353,022 (GRCm39) A444V probably benign Het
Dll1 T C 17: 15,588,951 (GRCm39) K575E probably damaging Het
Dnah11 A G 12: 118,089,676 (GRCm39) F1130S probably damaging Het
Dnah2 A G 11: 69,420,295 (GRCm39) F140L probably damaging Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Evi5 T C 5: 107,943,618 (GRCm39) T592A probably benign Het
Fas T C 19: 34,294,043 (GRCm39) S133P probably damaging Het
Gpr139 A G 7: 118,744,427 (GRCm39) S53P probably benign Het
H2-Q4 T C 17: 35,599,411 (GRCm39) F165L probably benign Het
Ighv9-2 A G 12: 114,072,838 (GRCm39) V45A probably benign Het
Lin54 C T 5: 100,628,063 (GRCm39) V47I probably benign Het
Nav3 TGAAGAAGAAGAAGA TGAAGAAGAAGA 10: 109,550,152 (GRCm39) probably benign Het
Nexn T C 3: 151,943,590 (GRCm39) T438A probably benign Het
Or4c112 A T 2: 88,853,598 (GRCm39) F250I probably damaging Het
Or8g4 T G 9: 39,661,784 (GRCm39) I34S probably damaging Het
Pilrb1 T A 5: 137,853,315 (GRCm39) M163L probably benign Het
Pkhd1 A T 1: 20,420,635 (GRCm39) probably null Het
Ppard G A 17: 28,517,822 (GRCm39) V297I probably benign Het
Rabgap1 T C 2: 37,365,369 (GRCm39) V214A probably benign Het
Serpinc1 T C 1: 160,817,191 (GRCm39) F95S probably damaging Het
Slc5a8 T C 10: 88,742,209 (GRCm39) Y302H probably damaging Het
Slco4a1 G A 2: 180,106,252 (GRCm39) A145T possibly damaging Het
Spata31g1 T A 4: 42,971,706 (GRCm39) F346L probably benign Het
Sptlc2 A T 12: 87,382,829 (GRCm39) M425K possibly damaging Het
Tent5c A G 3: 100,380,024 (GRCm39) L244P probably damaging Het
Trp53bp1 A G 2: 121,074,464 (GRCm39) S429P probably benign Het
Unc13a T A 8: 72,105,208 (GRCm39) T723S probably damaging Het
Ush2a A T 1: 188,553,914 (GRCm39) I3468F possibly damaging Het
Utp20 A T 10: 88,586,532 (GRCm39) D2547E probably benign Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Zfyve26 A G 12: 79,315,756 (GRCm39) L1240P probably damaging 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
R2224:Inpp1 UTSW 1 52,829,290 (GRCm39) missense probably benign 0.07
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
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'- GAGATCTGGTGTTCTGACAGTC -3'
(R):5'- TGGCACCTAACTGATGAGTTC -3'

Sequencing Primer
(F):5'- GTGTTCTGACAGTCTCTATTTCTTAG -3'
(R):5'- GATGCCGCCTGCTGTTC -3'
Posted On 2016-07-06