Incidental Mutation 'R5999:Inpp5k'
ID 480734
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 044178-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5999 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75521814-75539697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75523926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 44 (A44S)
Ref Sequence ENSEMBL: ENSMUSP00000006286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000143219] [ENSMUST00000150857] [ENSMUST00000179521]
AlphaFold Q8C5L6
Predicted Effect probably damaging
Transcript: ENSMUST00000006286
AA Change: A44S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: A44S

DomainStartEndE-ValueType
IPPc 30 345 1.03e-148 SMART
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 benign
Transcript: ENSMUST00000150857
Predicted Effect probably benign
Transcript: ENSMUST00000179521
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.2e-123 PFAM
Meta Mutation Damage Score 0.0923 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A G 12: 84,122,328 (GRCm39) D304G probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akap9 A G 5: 4,093,925 (GRCm39) N2149S probably damaging Het
Akp3 T A 1: 87,055,263 (GRCm39) Y437N probably damaging Het
Anks1b C T 10: 90,194,910 (GRCm39) T530I probably damaging Het
Bltp2 T C 11: 78,176,294 (GRCm39) F1799L probably damaging Het
Bnc2 C T 4: 84,474,137 (GRCm39) R3H probably benign Het
Cald1 A T 6: 34,723,273 (GRCm39) probably benign Het
Capn9 A G 8: 125,315,817 (GRCm39) T87A probably damaging Het
Ccdc88c A G 12: 100,934,613 (GRCm39) L175P probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cd44 A T 2: 102,675,742 (GRCm39) N310K probably benign Het
Cenpc1 T A 5: 86,160,122 (GRCm39) K905N probably damaging Het
Cept1 A T 3: 106,440,759 (GRCm39) D133E probably damaging Het
Cltc T C 11: 86,594,955 (GRCm39) H1381R possibly damaging Het
Col4a4 T A 1: 82,470,340 (GRCm39) T730S unknown Het
Col6a4 A T 9: 105,945,120 (GRCm39) M998K probably benign Het
Cpne6 T C 14: 55,750,516 (GRCm39) V119A probably benign Het
Ddx54 G T 5: 120,761,645 (GRCm39) A474S probably benign Het
Dmbx1 G T 4: 115,775,373 (GRCm39) N302K probably damaging Het
Dnah8 A G 17: 30,882,279 (GRCm39) E617G probably benign Het
Ei24 A G 9: 36,704,603 (GRCm39) V10A probably benign Het
Elp3 A G 14: 65,768,989 (GRCm39) V543A probably benign Het
Frmd3 T C 4: 74,088,928 (GRCm39) I375T possibly damaging Het
Gm6408 A G 5: 146,421,067 (GRCm39) D232G possibly damaging Het
Inmt A T 6: 55,151,933 (GRCm39) Y12* probably null Het
Kalrn T A 16: 34,177,713 (GRCm39) T169S probably damaging Het
Kif28 A T 1: 179,523,355 (GRCm39) F992I probably damaging Het
Kmt2c A T 5: 25,489,203 (GRCm39) Y1199N probably damaging Het
Large2 C T 2: 92,196,403 (GRCm39) E475K probably benign Het
Mroh2b T A 15: 4,942,366 (GRCm39) probably null Het
Mrpl42 T C 10: 95,336,341 (GRCm39) probably benign Het
Muc5b A T 7: 141,411,116 (GRCm39) H1354L unknown Het
Myof C A 19: 37,928,304 (GRCm39) E1095* probably null Het
Ncor2 A G 5: 125,110,505 (GRCm39) V1385A probably damaging Het
Nr5a2 T C 1: 136,773,280 (GRCm39) Y474C probably damaging Het
Or1j10 A G 2: 36,267,322 (GRCm39) D178G probably damaging Het
Or5a21 C T 19: 12,311,008 (GRCm39) D71N probably damaging Het
Or5l13 A T 2: 87,780,145 (GRCm39) probably null Het
Pogz A G 3: 94,763,428 (GRCm39) T67A possibly damaging Het
Prep T A 10: 44,948,225 (GRCm39) probably null Het
Prf1 A G 10: 61,138,807 (GRCm39) D255G probably damaging Het
Psme2 A G 14: 55,827,539 (GRCm39) L24P probably damaging Het
Scmh1 T A 4: 120,362,712 (GRCm39) probably null Het
Scpep1 A G 11: 88,820,139 (GRCm39) V383A possibly damaging Het
Slc4a10 A T 2: 62,073,775 (GRCm39) N279I probably benign Het
Sphkap T C 1: 83,245,126 (GRCm39) S1498G probably benign Het
Spinkl C A 18: 44,301,206 (GRCm39) S44I probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tle5 T C 10: 81,397,098 (GRCm39) S25P probably damaging Het
Tmem213 A G 6: 38,086,386 (GRCm39) Q14R probably benign Het
Tns1 A T 1: 73,967,256 (GRCm39) Y1172* probably null Het
Ugt2b37 A C 5: 87,402,036 (GRCm39) I198M probably benign Het
Usp17lb A C 7: 104,489,552 (GRCm39) I457M probably damaging Het
Usp6nl G T 2: 6,446,150 (GRCm39) R709L probably damaging Het
Zer1 A G 2: 29,995,009 (GRCm39) L462P probably damaging Het
Zfhx2 A G 14: 55,311,462 (GRCm39) S411P probably benign 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
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
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
(F):5'- TTCCTACCACACGATGCAG -3'
(R):5'- GATGAAAGCTCCTCCCCTTC -3'

Sequencing Primer
(F):5'- TGCATAGTGAGACACAGCCTC -3'
(R):5'- TTCAGACTCTAACACAAGCGAGG -3'
Posted On 2017-06-26