Incidental Mutation 'R6354:Inpp1'
ID512941
Institutional Source Beutler Lab
Gene Symbol Inpp1
Ensembl Gene ENSMUSG00000026102
Gene Nameinositol polyphosphate-1-phosphatase
Synonyms2300002C06Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6354 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location52785427-52817688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52797065 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 81 (S81P)
Ref Sequence ENSEMBL: ENSMUSP00000124890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027271] [ENSMUST00000159725] [ENSMUST00000162576] [ENSMUST00000177279]
Predicted Effect probably damaging
Transcript: ENSMUST00000027271
AA Change: S81P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027271
Gene: ENSMUSG00000026102
AA Change: S81P

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 damaging
Transcript: ENSMUST00000162576
AA Change: S81P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124890
Gene: ENSMUSG00000026102
AA Change: S81P

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: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,794,216 K152E probably benign Het
Adamts20 C A 15: 94,347,810 C537F probably damaging Het
Apc A T 18: 34,312,528 T808S probably benign Het
Atad3a A G 4: 155,753,945 I205T possibly damaging Het
Casz1 G T 4: 148,952,542 G1754C unknown Het
Ccdc62 C T 5: 123,944,204 A232V probably damaging Het
Cdc27 C A 11: 104,534,748 D81Y probably damaging Het
Cep126 A G 9: 8,099,927 S869P probably damaging Het
Ciita A T 16: 10,523,746 K983N probably damaging Het
Clstn1 A C 4: 149,643,216 Q523P probably benign Het
Cpb2 T C 14: 75,257,705 probably null Het
Crybg2 A G 4: 134,091,136 D1710G probably benign Het
Csmd3 C T 15: 47,881,489 G1370D probably damaging Het
Cwf19l1 G T 19: 44,127,473 D172E probably benign Het
Cyp4a14 A G 4: 115,487,244 F475L probably damaging Het
Fam98c C T 7: 29,152,847 V298M probably damaging Het
Gcsh T C 8: 116,983,843 N127S probably benign Het
Gimap4 T C 6: 48,686,880 F10S possibly damaging Het
Gm4787 C T 12: 81,377,981 A468T probably damaging Het
Gm5111 G A 6: 48,590,334 probably benign Het
Gm7137 C A 10: 77,787,647 probably benign Het
Iqce T C 5: 140,676,335 probably null Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,571,910 probably benign Het
Krtap13 C A 16: 88,751,243 C119F probably damaging Het
Lama2 G T 10: 27,212,068 D904E probably damaging Het
Lrrc37a T A 11: 103,464,387 I2535F unknown Het
Lrrc40 T A 3: 158,061,264 L452* probably null Het
Meis1 A T 11: 19,016,184 M63K possibly damaging Het
Mpo T A 11: 87,797,346 I277N possibly damaging Het
Mtmr11 T A 3: 96,168,676 F406I probably benign Het
Muc4 T C 16: 32,754,358 S1411P probably benign Het
Odf3 A G 7: 140,850,614 probably null Het
Olfr10 A T 11: 49,317,638 I31F probably damaging Het
Olfr1189 T A 2: 88,592,134 I110N probably damaging Het
Olfr683 G A 7: 105,143,708 T195I probably benign Het
Phf21a G A 2: 92,348,937 G298R probably damaging Het
Phldb2 T C 16: 45,825,114 Y368C probably damaging Het
Pik3cb G T 9: 99,073,643 T407K probably benign Het
Robo3 A T 9: 37,417,217 probably benign Het
Sgsm1 T G 5: 113,282,656 T288P probably damaging Het
Slc5a7 A G 17: 54,277,033 S410P probably damaging Het
Tmc6 A C 11: 117,774,236 C404G probably benign Het
Tnrc6c A T 11: 117,749,614 Q1410L possibly damaging Het
Trak1 A T 9: 121,451,726 T384S probably null Het
Txlna A T 4: 129,634,412 L244Q probably damaging Het
Ube3c T C 5: 29,663,583 F939L probably damaging Het
Vmn2r65 T A 7: 84,940,366 I781F probably benign Het
Vmn2r72 A G 7: 85,750,539 probably null Het
Vps36 T C 8: 22,205,755 S109P probably damaging Het
Wdr66 C T 5: 123,302,755 T1125I probably damaging Het
Wrn T C 8: 33,343,638 I82M possibly damaging Het
Zbtb49 T C 5: 38,203,559 R511G possibly damaging Het
Zeb1 A G 18: 5,772,743 T1011A possibly damaging Het
Zfhx4 T C 3: 5,401,951 S2390P probably benign Het
Zfp619 C A 7: 39,534,819 T91K probably benign Het
Zfp644 A G 5: 106,636,753 S643P 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
R2224:Inpp1 UTSW 1 52790131 missense probably benign 0.07
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
Predicted Primers PCR Primer
(F):5'- TTCCAAGAAACCACCTTGCTTC -3'
(R):5'- AAGTTGACTTCTGCAATGGGTG -3'

Sequencing Primer
(F):5'- AAATGTCATGGTATTCTGAGGTAGAG -3'
(R):5'- CAATGGGTGTTTTTGAGTTTCAGATC -3'
Posted On2018-04-27