Incidental Mutation 'R5090:Inpp5e'
ID 387673
Institutional Source Beutler Lab
Gene Symbol Inpp5e
Ensembl Gene ENSMUSG00000026925
Gene Name inositol polyphosphate-5-phosphatase E
Synonyms 1200002L24Rik, 72kDa
MMRRC Submission 042679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5090 (G1)
Quality Score 193
Status Validated
Chromosome 2
Chromosomal Location 26286261-26299215 bp(-) (GRCm39)
Type of Mutation splice site (2249 bp from exon)
DNA Base Change (assembly) A to T at 26289383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076431] [ENSMUST00000114090] [ENSMUST00000145701]
AlphaFold Q9JII1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028291
Predicted Effect probably null
Transcript: ENSMUST00000076431
SMART Domains Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926

DomainStartEndE-ValueType
Pfam:Peptidase_M16 76 226 4.5e-47 PFAM
Pfam:Peptidase_M16_C 231 430 4.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114090
SMART Domains Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
low complexity region 277 294 N/A INTRINSIC
IPPc 300 602 1.27e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131109
SMART Domains Protein: ENSMUSP00000118739
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 4 88 6.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144011
SMART Domains Protein: ENSMUSP00000123272
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
IPPc 21 206 1.76e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145701
SMART Domains Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
low complexity region 277 294 N/A INTRINSIC
IPPc 300 602 1.27e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146061
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,984,422 (GRCm39) S1168G probably damaging Het
Acsf2 A T 11: 94,462,095 (GRCm39) probably null Het
Ankk1 G T 9: 49,333,063 (GRCm39) S140R probably damaging Het
Ash1l G T 3: 88,960,184 (GRCm39) K2305N probably damaging Het
Asnsd1 C T 1: 53,391,563 (GRCm39) probably benign Het
Atxn7l1 T C 12: 33,376,077 (GRCm39) S51P probably damaging Het
Ccdc88c A G 12: 100,920,439 (GRCm39) L394P probably damaging Het
Cd200r1 T A 16: 44,609,924 (GRCm39) S48T possibly damaging Het
Cemip T C 7: 83,591,343 (GRCm39) E1243G probably damaging Het
Cep192 T A 18: 67,993,617 (GRCm39) H1977Q possibly damaging Het
Cep250 T C 2: 155,818,324 (GRCm39) L833P probably damaging Het
Chd9 C A 8: 91,753,462 (GRCm39) Y1818* probably null Het
Clca3a1 C A 3: 144,443,633 (GRCm39) V706L probably benign Het
Cntln T C 4: 84,865,830 (GRCm39) V162A probably damaging Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Cux1 T A 5: 136,342,054 (GRCm39) N446I possibly damaging Het
Dlg1 G T 16: 31,656,902 (GRCm39) G599W probably damaging Het
Dock7 C T 4: 98,879,648 (GRCm39) V969I probably benign Het
Ephb3 T C 16: 21,033,237 (GRCm39) C74R probably damaging Het
Fads6 T A 11: 115,187,480 (GRCm39) T72S probably benign Het
Fra10ac1 C T 19: 38,202,873 (GRCm39) R110Q probably damaging Het
Gdf3 T A 6: 122,586,713 (GRCm39) L71F probably benign Het
Gm6685 A G 11: 28,289,253 (GRCm39) Y188H probably benign Het
Gm6981 A C 9: 51,914,142 (GRCm39) noncoding transcript Het
Gnpda1 T C 18: 38,465,146 (GRCm39) T157A probably damaging Het
Grap2 A C 15: 80,522,683 (GRCm39) N70H possibly damaging Het
Gvin3 T A 7: 106,200,109 (GRCm39) noncoding transcript Het
Hdac5 G A 11: 102,088,539 (GRCm39) R887C probably damaging Het
Hectd3 T A 4: 116,857,435 (GRCm39) probably benign Het
Hmgcr T C 13: 96,787,098 (GRCm39) K162E probably benign Het
Kifap3 A G 1: 163,683,645 (GRCm39) D442G possibly damaging Het
Lama3 A G 18: 12,675,459 (GRCm39) T1015A possibly damaging Het
Lcp2 T A 11: 34,039,725 (GRCm39) Y508* probably null Het
Map1b G T 13: 99,566,534 (GRCm39) Y2062* probably null Het
Mipep A G 14: 61,039,748 (GRCm39) D259G possibly damaging Het
Mmp2 T C 8: 93,579,202 (GRCm39) F97S probably damaging Het
Mrpl18 A C 17: 13,132,697 (GRCm39) M144R probably damaging Het
Nek9 A G 12: 85,376,616 (GRCm39) probably null Het
Nmral1 A T 16: 4,532,395 (GRCm39) Y139N probably damaging Het
Notch4 T C 17: 34,799,894 (GRCm39) C952R probably damaging Het
Nsf T C 11: 103,801,404 (GRCm39) N204D probably benign Het
P2rx4 A T 5: 122,863,118 (GRCm39) D197V probably damaging Het
Pak5 A T 2: 135,929,338 (GRCm39) I615N probably damaging Het
Parp10 T C 15: 76,125,925 (GRCm39) D421G probably damaging Het
Pcdha6 A T 18: 37,101,770 (GRCm39) D321V probably benign Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Psmd4 T C 3: 94,942,559 (GRCm39) N7S possibly damaging Het
Ptprq A G 10: 107,361,950 (GRCm39) V2084A probably damaging Het
Rab3gap1 A G 1: 127,843,415 (GRCm39) E263G probably benign Het
Rbm5 A G 9: 107,637,511 (GRCm39) probably benign Het
Sacs T C 14: 61,442,702 (GRCm39) F1583L probably damaging Het
Sel1l3 G T 5: 53,357,388 (GRCm39) H201Q probably benign Het
Shoc1 T C 4: 59,111,108 (GRCm39) T55A unknown Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Trim55 A G 3: 19,725,771 (GRCm39) N313S probably benign Het
Usp17lb A T 7: 104,490,290 (GRCm39) D212E probably benign Het
Xirp2 A G 2: 67,355,814 (GRCm39) E3525G possibly damaging Het
Zfp236 T C 18: 82,637,006 (GRCm39) T1379A probably benign Het
Zfp553 A T 7: 126,834,659 (GRCm39) E71D probably damaging Het
Znrf1 T G 8: 112,265,035 (GRCm39) F21V probably benign Het
Other mutations in Inpp5e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Inpp5e APN 2 26,298,533 (GRCm39) missense probably benign
IGL00943:Inpp5e APN 2 26,290,163 (GRCm39) splice site probably benign
IGL01518:Inpp5e APN 2 26,287,946 (GRCm39) missense probably damaging 1.00
R0212:Inpp5e UTSW 2 26,298,352 (GRCm39) splice site probably null
R1818:Inpp5e UTSW 2 26,287,886 (GRCm39) missense probably benign 0.00
R1876:Inpp5e UTSW 2 26,298,169 (GRCm39) missense possibly damaging 0.91
R2508:Inpp5e UTSW 2 26,289,355 (GRCm39) missense probably damaging 1.00
R4175:Inpp5e UTSW 2 26,290,937 (GRCm39) missense probably damaging 0.99
R4647:Inpp5e UTSW 2 26,297,926 (GRCm39) missense probably benign 0.01
R4668:Inpp5e UTSW 2 26,291,006 (GRCm39) missense probably damaging 0.97
R4895:Inpp5e UTSW 2 26,287,924 (GRCm39) missense probably damaging 1.00
R4908:Inpp5e UTSW 2 26,290,918 (GRCm39) missense probably damaging 1.00
R5096:Inpp5e UTSW 2 26,289,537 (GRCm39) missense probably damaging 1.00
R5830:Inpp5e UTSW 2 26,290,427 (GRCm39) missense probably damaging 1.00
R6056:Inpp5e UTSW 2 26,297,860 (GRCm39) nonsense probably null
R6899:Inpp5e UTSW 2 26,290,060 (GRCm39) missense possibly damaging 0.77
R6939:Inpp5e UTSW 2 26,297,774 (GRCm39) splice site probably null
R7003:Inpp5e UTSW 2 26,287,877 (GRCm39) missense probably benign 0.01
R7164:Inpp5e UTSW 2 26,297,995 (GRCm39) missense possibly damaging 0.66
R7275:Inpp5e UTSW 2 26,298,104 (GRCm39) missense probably benign 0.00
R7285:Inpp5e UTSW 2 26,287,870 (GRCm39) missense probably benign 0.36
R7468:Inpp5e UTSW 2 26,298,161 (GRCm39) missense probably benign 0.00
R7873:Inpp5e UTSW 2 26,297,957 (GRCm39) nonsense probably null
R8032:Inpp5e UTSW 2 26,286,865 (GRCm39) missense
R8146:Inpp5e UTSW 2 26,289,274 (GRCm39) missense probably benign 0.00
R9227:Inpp5e UTSW 2 26,288,616 (GRCm39) missense probably damaging 1.00
R9310:Inpp5e UTSW 2 26,287,940 (GRCm39) missense probably benign
R9706:Inpp5e UTSW 2 26,292,126 (GRCm39) missense probably benign 0.21
RF002:Inpp5e UTSW 2 26,298,389 (GRCm39) missense possibly damaging 0.95
X0061:Inpp5e UTSW 2 26,292,159 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGCTTGACATGAGCTGTGG -3'
(R):5'- ATGTCACTACCCGGTTTGATGAG -3'

Sequencing Primer
(F):5'- ACATGAGCTGTGGTTGGCAG -3'
(R):5'- ACTACCCGGTTTGATGAGGTCTTC -3'
Posted On 2016-06-06