Incidental Mutation 'IGL00470:Inpp5k'
ID 4541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp5k
Ensembl Gene ENSMUSG00000006127
Gene Name inositol polyphosphate 5-phosphatase K
Synonyms putative PI-5-phosphatase, PI-5-phosphatase related, C62, Pps
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00470
Quality Score
Status
Chromosome 11
Chromosomal Location 75630988-75648871 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75645525 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 310 (S310P)
Ref Sequence ENSEMBL: ENSMUSP00000006286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000102505] [ENSMUST00000139856] [ENSMUST00000150857]
AlphaFold Q8C5L6
Predicted Effect probably benign
Transcript: ENSMUST00000006286
AA Change: S310P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: S310P

DomainStartEndE-ValueType
IPPc 30 345 1.03e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102505
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774

DomainStartEndE-ValueType
MYSc 40 732 N/A SMART
IQ 733 755 3.85e-3 SMART
IQ 756 778 2.09e-4 SMART
Blast:MYSc 786 815 6e-9 BLAST
low complexity region 839 850 N/A INTRINSIC
Pfam:Myosin_TH1 874 1052 2.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136605
Predicted Effect probably benign
Transcript: ENSMUST00000139856
SMART Domains Protein: ENSMUSP00000121060
Gene: ENSMUSG00000006127

DomainStartEndE-ValueType
Blast:IPPc 18 94 4e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149134
Predicted Effect probably benign
Transcript: ENSMUST00000150857
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,773,003 S416T probably damaging Het
4732463B04Rik G T 12: 84,043,804 probably benign Het
4921501E09Rik T A 17: 33,065,863 H655L probably benign Het
Abcd1 T C X: 73,717,548 L173P probably damaging Het
Adam18 T A 8: 24,628,133 D41V probably damaging Het
Aspa T G 11: 73,313,621 probably benign Het
C530008M17Rik G A 5: 76,866,056 probably benign Het
Cacna2d1 T A 5: 16,246,656 probably benign Het
Cubn T A 2: 13,278,418 I3570L probably benign Het
Cyp2j13 G A 4: 96,062,038 P242L probably damaging Het
Cysrt1 T C 2: 25,239,501 probably benign Het
Dchs1 A T 7: 105,758,207 L2100H probably damaging Het
Ddb1 G A 19: 10,611,664 A229T possibly damaging Het
Dst A T 1: 34,188,962 I1554F probably damaging Het
Dvl3 C T 16: 20,530,939 P554L probably damaging Het
Fcgbp C A 7: 28,075,086 C28* probably null Het
Gm773 T C X: 56,202,013 D53G probably benign Het
Hhat A G 1: 192,717,017 Y272H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Kcnh5 T C 12: 74,897,796 D893G probably benign Het
Lama2 T C 10: 27,243,742 T709A probably benign Het
Mcm8 G A 2: 132,827,537 V281I probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Nup133 T G 8: 123,939,083 D201A probably damaging Het
Oxct2a A G 4: 123,323,390 L66P possibly damaging Het
Pcbp2 C T 15: 102,490,713 A224V probably damaging Het
Pla2g4e G A 2: 120,185,238 S275F probably benign Het
Pxk T C 14: 8,130,754 F118L probably damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Sphkap A G 1: 83,277,910 M706T possibly damaging Het
Tarsl2 T C 7: 65,688,908 M689T probably benign Het
Trrap T C 5: 144,818,038 V2008A probably damaging Het
Txndc2 A T 17: 65,638,574 S203T probably benign Het
Txnrd1 T G 10: 82,875,662 D42E probably damaging Het
Zswim8 G A 14: 20,723,181 D1746N probably damaging Het
Other mutations in Inpp5k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Inpp5k APN 11 75646820 missense possibly damaging 0.72
IGL00529:Inpp5k APN 11 75631204 unclassified probably benign
IGL01761:Inpp5k APN 11 75647677 missense possibly damaging 0.75
IGL02532:Inpp5k APN 11 75633184 unclassified probably benign
R0081:Inpp5k UTSW 11 75631147 frame shift probably null
R0206:Inpp5k UTSW 11 75631143 missense probably benign
R0206:Inpp5k UTSW 11 75631143 missense probably benign
R0520:Inpp5k UTSW 11 75639530 nonsense probably null
R0841:Inpp5k UTSW 11 75633459 unclassified probably benign
R1145:Inpp5k UTSW 11 75633459 unclassified probably benign
R1433:Inpp5k UTSW 11 75637491 missense probably benign 0.00
R1605:Inpp5k UTSW 11 75633481 missense probably benign 0.00
R2144:Inpp5k UTSW 11 75647191 critical splice acceptor site probably null
R2145:Inpp5k UTSW 11 75647191 critical splice acceptor site probably null
R2296:Inpp5k UTSW 11 75639487 missense probably damaging 1.00
R3783:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R3784:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R3785:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R3787:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R5999:Inpp5k UTSW 11 75633100 missense probably damaging 0.99
R6337:Inpp5k UTSW 11 75646814 missense probably damaging 1.00
R6405:Inpp5k UTSW 11 75633178 critical splice donor site probably null
R9338:Inpp5k UTSW 11 75645585 missense probably damaging 1.00
Posted On 2012-04-20