Incidental Mutation 'IGL01518:Inpp5e'
ID89381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp5e
Ensembl Gene ENSMUSG00000026925
Gene Nameinositol polyphosphate-5-phosphatase E
Synonyms72kDa, 1200002L24Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01518
Quality Score
Status
Chromosome2
Chromosomal Location26396249-26409203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26397934 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 617 (Y617H)
Ref Sequence ENSEMBL: ENSMUSP00000119485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076431] [ENSMUST00000114090] [ENSMUST00000114093] [ENSMUST00000145701]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028291
Predicted Effect probably benign
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: ENSMUST00000114093
SMART Domains Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926

DomainStartEndE-ValueType
Pfam:Peptidase_M16 76 226 1.6e-47 PFAM
Pfam:Peptidase_M16_C 231 420 9.6e-39 PFAM
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 damaging
Transcript: ENSMUST00000145701
AA Change: Y617H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: Y617H

DomainStartEndE-ValueType
low complexity region 277 294 N/A INTRINSIC
IPPc 300 602 1.27e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150907
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 66,304,054 V16G unknown Het
4933427I04Rik A T 4: 123,860,701 E136V probably benign Het
Aadac A G 3: 60,035,899 D75G probably damaging Het
Arfgap1 T A 2: 180,972,725 S125T probably benign Het
Atxn2 G T 5: 121,810,979 A813S probably damaging Het
Cadps C A 14: 12,522,352 S604I probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col4a4 T A 1: 82,455,759 M1488L unknown Het
Fndc3c1 T C X: 106,431,423 N941S probably damaging Het
Fryl T C 5: 73,086,962 Y1172C possibly damaging Het
Gm1527 T C 3: 28,895,588 probably benign Het
Hsf2 T C 10: 57,512,134 L458P probably damaging Het
Il2 T C 3: 37,123,007 T127A possibly damaging Het
Isoc2b G A 7: 4,850,764 S137F probably damaging Het
Map2 C T 1: 66,425,331 P241S probably damaging Het
Mfsd6 C A 1: 52,709,322 R128L probably damaging Het
Mrnip A G 11: 50,197,635 T153A probably damaging Het
Olfr1269 A G 2: 90,118,971 F209S possibly damaging Het
Olfr26 A T 9: 38,855,799 M246L probably benign Het
Pi4ka T C 16: 17,280,735 N2022S probably benign Het
Scrt2 C A 2: 152,093,640 R238S probably damaging Het
St3gal6 T A 16: 58,484,775 D108V probably benign Het
Tmem132b C T 5: 125,778,791 T529M probably damaging Het
Trappc11 T C 8: 47,501,869 probably null Het
Tspyl1 T A 10: 34,283,199 S307T possibly damaging Het
Ush2a A G 1: 188,399,785 S735G probably benign Het
Wnk2 T C 13: 49,068,192 M1186V possibly damaging Het
Other mutations in Inpp5e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Inpp5e APN 2 26408521 missense probably benign
IGL00943:Inpp5e APN 2 26400151 splice site probably benign
R0212:Inpp5e UTSW 2 26408340 unclassified probably null
R1818:Inpp5e UTSW 2 26397874 missense probably benign 0.00
R1876:Inpp5e UTSW 2 26408157 missense possibly damaging 0.91
R2508:Inpp5e UTSW 2 26399343 missense probably damaging 1.00
R4175:Inpp5e UTSW 2 26400925 missense probably damaging 0.99
R4647:Inpp5e UTSW 2 26407914 missense probably benign 0.01
R4668:Inpp5e UTSW 2 26400994 missense probably damaging 0.97
R4895:Inpp5e UTSW 2 26397912 missense probably damaging 1.00
R4908:Inpp5e UTSW 2 26400906 missense probably damaging 1.00
R5090:Inpp5e UTSW 2 26399371 unclassified probably null
R5096:Inpp5e UTSW 2 26399525 missense probably damaging 1.00
R5830:Inpp5e UTSW 2 26400415 missense probably damaging 1.00
R6056:Inpp5e UTSW 2 26407848 nonsense probably null
R6899:Inpp5e UTSW 2 26400048 missense possibly damaging 0.77
R6939:Inpp5e UTSW 2 26407762 splice site probably null
R7003:Inpp5e UTSW 2 26397865 missense probably benign 0.01
R7164:Inpp5e UTSW 2 26407983 missense possibly damaging 0.66
R7275:Inpp5e UTSW 2 26408092 missense probably benign 0.00
R7285:Inpp5e UTSW 2 26397858 missense probably benign 0.36
R7468:Inpp5e UTSW 2 26408149 missense probably benign 0.00
R7873:Inpp5e UTSW 2 26407945 nonsense probably null
R7956:Inpp5e UTSW 2 26407945 nonsense probably null
R8032:Inpp5e UTSW 2 26396853 missense
RF002:Inpp5e UTSW 2 26408377 missense possibly damaging 0.95
X0061:Inpp5e UTSW 2 26402147 nonsense probably null
Posted On2013-12-03