Incidental Mutation 'R0081:Inpp5k'
ID 65762
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 038368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0081 (G1)
Quality Score 217
Status Validated
Chromosome 11
Chromosomal Location 75521814-75539697 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GT to G at 75521973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000150857] [ENSMUST00000179445] [ENSMUST00000179521]
AlphaFold Q8C5L6
Predicted Effect probably null
Transcript: ENSMUST00000006286
SMART Domains Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000150857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153768
Predicted Effect probably benign
Transcript: ENSMUST00000179445
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781

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

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.2e-123 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Foxp2 T C 6: 15,405,643 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
H1f8 A G 6: 115,926,942 (GRCm39) E273G probably benign Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Hk2 A T 6: 82,711,957 (GRCm39) probably benign Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Pkn2 T G 3: 142,559,343 (GRCm39) K61Q probably damaging Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tdrd1 T C 19: 56,819,703 (GRCm39) Y68H probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G 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
R0206:Inpp5k UTSW 11 75,521,969 (GRCm39) missense probably benign
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
Posted On 2013-08-19