Incidental Mutation 'R0206:Inpp5k'
ID 35477
Institutional Source Beutler Lab
Gene Symbol Inpp5k
Ensembl Gene ENSMUSG00000006127
Gene Name inositol polyphosphate 5-phosphatase K
Synonyms C62, PI-5-phosphatase related, putative PI-5-phosphatase, Pps
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0206 (G1)
Quality Score 89
Status Validated
Chromosome 11
Chromosomal Location 75521814-75539697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75521969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 15 (I15T)
Ref Sequence ENSEMBL: ENSMUSP00000006286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000150857] [ENSMUST00000179445] [ENSMUST00000179521]
AlphaFold Q8C5L6
Predicted Effect probably benign
Transcript: ENSMUST00000006286
AA Change: I15T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: I15T

IPPc 30 345 1.03e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102509
SMART Domains Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781

Pfam:IP_trans 2 99 1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136605
Predicted Effect probably benign
Transcript: ENSMUST00000143219
SMART Domains Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781

Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000150857
AA Change: I15T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153768
Predicted Effect probably benign
Transcript: ENSMUST00000179445
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781

Pfam:IP_trans 2 255 6.7e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179521
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781

Pfam:IP_trans 2 254 3.2e-123 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 99% (83/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality. Adult heterozygous mutant mice show normal food intake and adiposity but exhibit enhanced glucose homeostasis and insulin sensitivity, increased insulin action in skeletal muscle, and reduced diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Acsl5 A G 19: 55,269,001 (GRCm39) K221E probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Adgrb2 T C 4: 129,886,352 (GRCm39) L164P probably damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Btbd8 A G 5: 107,652,906 (GRCm39) T304A probably benign Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdca3 C T 6: 124,809,514 (GRCm39) probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Csgalnact2 T G 6: 118,091,347 (GRCm39) Q197P probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Ddt A G 10: 75,608,719 (GRCm39) M1T probably null Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gabra6 C T 11: 42,207,906 (GRCm39) W188* probably null Het
Gnptab A T 10: 88,275,372 (GRCm39) H1111L probably damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Inhca A G 9: 103,159,861 (GRCm39) C5R probably damaging Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Kctd8 A T 5: 69,498,508 (GRCm39) V46E probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mvk C T 5: 114,597,035 (GRCm39) T334M probably damaging Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Pomgnt1 T C 4: 116,015,757 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Rlig1 T A 10: 100,422,056 (GRCm39) K69* probably null Het
Rmdn2 T A 17: 79,957,716 (GRCm39) probably benign Het
Ryr2 A G 13: 11,691,137 (GRCm39) probably benign Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Slc1a3 A G 15: 8,738,040 (GRCm39) probably benign Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Snx33 G A 9: 56,833,508 (GRCm39) S187L probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tinag A G 9: 76,907,134 (GRCm39) I367T probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ube4b T C 4: 149,483,094 (GRCm39) H58R probably benign Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Usp28 A G 9: 48,939,569 (GRCm39) Y275C probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Vps13c A G 9: 67,846,444 (GRCm39) probably benign Het
Vwf T C 6: 125,614,419 (GRCm39) F1100S probably damaging Het
Zfp318 G T 17: 46,709,945 (GRCm39) R556L probably benign Het
Zkscan1 T A 5: 138,099,448 (GRCm39) C391S probably damaging Het
Other mutations in Inpp5k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Inpp5k APN 11 75,537,646 (GRCm39) missense possibly damaging 0.72
IGL00470:Inpp5k APN 11 75,536,351 (GRCm39) missense probably benign 0.00
IGL00529:Inpp5k APN 11 75,522,030 (GRCm39) unclassified probably benign
IGL01761:Inpp5k APN 11 75,538,503 (GRCm39) missense possibly damaging 0.75
IGL02532:Inpp5k APN 11 75,524,010 (GRCm39) unclassified probably benign
R0081:Inpp5k UTSW 11 75,521,973 (GRCm39) frame shift probably null
R0206:Inpp5k UTSW 11 75,521,969 (GRCm39) missense probably benign
R0520:Inpp5k UTSW 11 75,530,356 (GRCm39) nonsense probably null
R0841:Inpp5k UTSW 11 75,524,285 (GRCm39) unclassified probably benign
R1145:Inpp5k UTSW 11 75,524,285 (GRCm39) unclassified probably benign
R1433:Inpp5k UTSW 11 75,528,317 (GRCm39) missense probably benign 0.00
R1605:Inpp5k UTSW 11 75,524,307 (GRCm39) missense probably benign 0.00
R2144:Inpp5k UTSW 11 75,538,017 (GRCm39) critical splice acceptor site probably null
R2145:Inpp5k UTSW 11 75,538,017 (GRCm39) critical splice acceptor site probably null
R2296:Inpp5k UTSW 11 75,530,313 (GRCm39) missense probably damaging 1.00
R3783:Inpp5k UTSW 11 75,538,512 (GRCm39) missense probably damaging 0.99
R3784:Inpp5k UTSW 11 75,538,512 (GRCm39) missense probably damaging 0.99
R3785:Inpp5k UTSW 11 75,538,512 (GRCm39) missense probably damaging 0.99
R3787:Inpp5k UTSW 11 75,538,512 (GRCm39) missense probably damaging 0.99
R5999:Inpp5k UTSW 11 75,523,926 (GRCm39) missense probably damaging 0.99
R6337:Inpp5k UTSW 11 75,537,640 (GRCm39) missense probably damaging 1.00
R6405:Inpp5k UTSW 11 75,524,004 (GRCm39) critical splice donor site probably null
R9338:Inpp5k UTSW 11 75,536,411 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09