Incidental Mutation 'R5972:Ip6k3'
ID 471494
Institutional Source Beutler Lab
Gene Symbol Ip6k3
Ensembl Gene ENSMUSG00000024210
Gene Name inositol hexaphosphate kinase 3
Synonyms Ihpk3, D830007E07Rik
MMRRC Submission 044155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R5972 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 27362945-27386738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27368934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 179 (T179A)
Ref Sequence ENSEMBL: ENSMUSP00000025046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025046]
AlphaFold Q8BWD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025046
AA Change: T179A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: T179A

DomainStartEndE-ValueType
Pfam:IPK 193 390 3e-68 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered cerebellar Purkinje cell morphology, reduced synapse number, and defects in motor learning and coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,649,070 (GRCm39) M305K probably benign Het
Accs G T 2: 93,669,572 (GRCm39) H283N probably damaging Het
Actl6b A T 5: 137,564,818 (GRCm39) H283L possibly damaging Het
Adgra1 T C 7: 139,425,583 (GRCm39) L32P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgef2 T C 2: 166,733,756 (GRCm39) I1672T probably damaging Het
Bambi T A 18: 3,512,354 (GRCm39) V246E probably damaging Het
BC048679 A G 7: 81,145,479 (GRCm39) L29P probably damaging Het
Bmal2 A G 6: 146,711,187 (GRCm39) M64V probably damaging Het
Camk4 T C 18: 33,240,979 (GRCm39) L92P probably damaging Het
Ddx11 C A 17: 66,455,085 (GRCm39) Q655K probably benign Het
Ddx52 A G 11: 83,844,051 (GRCm39) probably null Het
Entrep3 T A 3: 89,093,115 (GRCm39) V213D probably damaging Het
Eps8l3 T C 3: 107,791,763 (GRCm39) probably null Het
Erap1 T A 13: 74,810,423 (GRCm39) probably null Het
Flg T A 3: 93,186,849 (GRCm39) N100K probably benign Het
Grip2 A T 6: 91,784,262 (GRCm39) V13E probably benign Het
Iars1 T C 13: 49,863,108 (GRCm39) V520A possibly damaging Het
Impa1 A G 3: 10,394,064 (GRCm39) M1T probably null Het
Krt87 T A 15: 101,385,467 (GRCm39) M302L probably benign Het
Lrp8 T C 4: 107,726,267 (GRCm39) Y899H probably damaging Het
Lrpprc A T 17: 85,020,250 (GRCm39) I1145N possibly damaging Het
Mapk11 A T 15: 89,028,387 (GRCm39) D324E probably benign Het
Melk C T 4: 44,351,007 (GRCm39) T516I probably benign Het
Mia2 C T 12: 59,193,723 (GRCm39) H130Y probably damaging Het
Mroh5 C T 15: 73,662,568 (GRCm39) probably null Het
Ncam1 T C 9: 49,418,829 (GRCm39) T824A possibly damaging Het
Neurog1 T C 13: 56,399,211 (GRCm39) S179G probably damaging Het
Ntrk2 T A 13: 58,985,633 (GRCm39) L79Q probably damaging Het
Patj T A 4: 98,457,290 (GRCm39) M46K probably damaging Het
Pdcd6ip T C 9: 113,491,366 (GRCm39) K626E probably benign Het
Pdss2 T A 10: 43,174,922 (GRCm39) Y143N probably damaging Het
Pkhd1l1 G A 15: 44,408,812 (GRCm39) S2433N probably damaging Het
Plekha5 A G 6: 140,518,639 (GRCm39) T309A possibly damaging Het
Prdm4 C T 10: 85,743,365 (GRCm39) V297M probably damaging Het
Rab15 T C 12: 76,847,377 (GRCm39) Y148C probably damaging Het
Ryr3 A T 2: 112,664,409 (GRCm39) N1627K probably damaging Het
Scn1a G T 2: 66,181,454 (GRCm39) A23E possibly damaging Het
Smtn A T 11: 3,483,486 (GRCm39) I30N probably damaging Het
Sympk A G 7: 18,780,749 (GRCm39) K751E probably benign Het
Usp24 C T 4: 106,225,264 (GRCm39) P632L probably damaging Het
Vmn2r106 A G 17: 20,498,738 (GRCm39) I391T probably benign Het
Vmn2r54 G A 7: 12,349,279 (GRCm39) P768S probably damaging Het
Vmn2r54 C T 7: 12,369,874 (GRCm39) C63Y probably damaging Het
Zfhx3 T G 8: 109,677,483 (GRCm39) C2844W possibly damaging Het
Other mutations in Ip6k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Ip6k3 APN 17 27,370,034 (GRCm39) missense probably benign
R0200:Ip6k3 UTSW 17 27,363,999 (GRCm39) missense probably damaging 1.00
R0220:Ip6k3 UTSW 17 27,364,203 (GRCm39) missense probably damaging 1.00
R1448:Ip6k3 UTSW 17 27,364,242 (GRCm39) missense possibly damaging 0.90
R1749:Ip6k3 UTSW 17 27,364,053 (GRCm39) missense probably benign 0.00
R1956:Ip6k3 UTSW 17 27,370,142 (GRCm39) missense probably benign 0.01
R1957:Ip6k3 UTSW 17 27,370,142 (GRCm39) missense probably benign 0.01
R3125:Ip6k3 UTSW 17 27,376,516 (GRCm39) missense probably damaging 1.00
R3798:Ip6k3 UTSW 17 27,364,080 (GRCm39) missense probably benign 0.01
R3806:Ip6k3 UTSW 17 27,363,974 (GRCm39) missense probably damaging 1.00
R4445:Ip6k3 UTSW 17 27,364,076 (GRCm39) missense probably benign 0.10
R4506:Ip6k3 UTSW 17 27,364,154 (GRCm39) missense possibly damaging 0.69
R4651:Ip6k3 UTSW 17 27,364,265 (GRCm39) missense probably damaging 1.00
R6119:Ip6k3 UTSW 17 27,367,599 (GRCm39) missense possibly damaging 0.72
R7140:Ip6k3 UTSW 17 27,363,969 (GRCm39) missense probably damaging 1.00
R7340:Ip6k3 UTSW 17 27,367,504 (GRCm39) missense probably benign 0.00
R7811:Ip6k3 UTSW 17 27,376,557 (GRCm39) nonsense probably null
R9105:Ip6k3 UTSW 17 27,364,169 (GRCm39) missense probably damaging 1.00
R9653:Ip6k3 UTSW 17 27,367,588 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGCTTGTATGTGACTGCTCC -3'
(R):5'- GGCTTTTGTCAGAGGCCATG -3'

Sequencing Primer
(F):5'- TGACTGCTCCTGTGAGTGCC -3'
(R):5'- TTCCTCTGGCAGCTGCTGAG -3'
Posted On 2017-03-31