Incidental Mutation 'R4895:Inpp5e'
ID 377537
Institutional Source Beutler Lab
Gene Symbol Inpp5e
Ensembl Gene ENSMUSG00000026925
Gene Name inositol polyphosphate-5-phosphatase E
Synonyms 1200002L24Rik, 72kDa
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26286261-26299215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26287924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 624 (R624Q)
Ref Sequence ENSEMBL: ENSMUSP00000119485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076431] [ENSMUST00000114090] [ENSMUST00000114093] [ENSMUST00000145701]
AlphaFold Q9JII1
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 noncoding transcript
Transcript: ENSMUST00000146061
Predicted Effect probably damaging
Transcript: ENSMUST00000145701
AA Change: R624Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: R624Q

DomainStartEndE-ValueType
low complexity region 277 294 N/A INTRINSIC
IPPc 300 602 1.27e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150907
Meta Mutation Damage Score 0.4325 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
R4908:Inpp5e UTSW 2 26,290,918 (GRCm39) missense probably damaging 1.00
R5090:Inpp5e UTSW 2 26,289,383 (GRCm39) splice site probably null
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'- TATAAATGTCCTGAGGGCTGGG -3'
(R):5'- AGTGAAGTTGAGGCCAGCTC -3'

Sequencing Primer
(F):5'- CTGGCCGTGGTGGATTAGAATC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2016-03-17