Incidental Mutation 'R5466:Ip6k2'
ID 433247
Institutional Source Beutler Lab
Gene Symbol Ip6k2
Ensembl Gene ENSMUSG00000032599
Gene Name inositol hexaphosphate kinase 2
Synonyms Ihpk2, 1500005N04Rik
MMRRC Submission 043027-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5466 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108660995-108683536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108675661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 109 (R109C)
Ref Sequence ENSEMBL: ENSMUSP00000141605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085018] [ENSMUST00000192028] [ENSMUST00000192226] [ENSMUST00000192307] [ENSMUST00000193560] [ENSMUST00000195514] [ENSMUST00000194782] [ENSMUST00000194875]
AlphaFold Q80V72
Predicted Effect probably damaging
Transcript: ENSMUST00000085018
AA Change: R155C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
AA Change: R155C

DomainStartEndE-ValueType
Pfam:IPK 225 440 2.7e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158001
Predicted Effect probably benign
Transcript: ENSMUST00000192028
Predicted Effect probably benign
Transcript: ENSMUST00000192226
Predicted Effect probably benign
Transcript: ENSMUST00000192307
Predicted Effect probably benign
Transcript: ENSMUST00000193055
Predicted Effect probably damaging
Transcript: ENSMUST00000193560
AA Change: R109C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
AA Change: R109C

DomainStartEndE-ValueType
Pfam:IPK 179 394 1.6e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195514
AA Change: R132C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193970
Predicted Effect probably benign
Transcript: ENSMUST00000194782
Predicted Effect probably benign
Transcript: ENSMUST00000194875
SMART Domains Protein: ENSMUSP00000142239
Gene: ENSMUSG00000032599

DomainStartEndE-ValueType
low complexity region 72 80 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
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 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 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are resistant to radiation-induced mortality and show increased double-strand DNA break repair and incidence of induced aerodigestive tract carcinomas. Homozygotes for another null allele show increased B cell viability after radiation or neocarzinostatin treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,541,733 (GRCm39) A17E probably benign Het
Actc1 T C 2: 113,880,979 (GRCm39) D82G probably damaging Het
Aox1 G C 1: 58,080,619 (GRCm39) E23Q probably damaging Het
Arap3 A G 18: 38,129,789 (GRCm39) V124A probably benign Het
Armc5 A G 7: 127,839,336 (GRCm39) N218S probably damaging Het
Cacna2d1 T A 5: 16,451,712 (GRCm39) V192E probably damaging Het
Col6a5 T A 9: 105,808,282 (GRCm39) E922V unknown Het
Dennd4b G A 3: 90,175,807 (GRCm39) probably null Het
Dnah12 A G 14: 26,493,007 (GRCm39) D1256G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,325,684 (GRCm39) E707G probably damaging Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fgf11 T C 11: 69,690,267 (GRCm39) I107V probably damaging Het
Fuca2 C T 10: 13,388,441 (GRCm39) Q406* probably null Het
Gm10428 A G 11: 62,643,932 (GRCm39) probably benign Het
Gm17430 A G 18: 9,726,228 (GRCm39) V148A probably benign Het
Gm5930 A T 14: 44,575,014 (GRCm39) N57K probably damaging Het
Gucy2c T A 6: 136,758,463 (GRCm39) K48* probably null Het
Kif21b T A 1: 136,075,263 (GRCm39) F159I probably damaging Het
Macf1 A T 4: 123,346,658 (GRCm39) S1981T possibly damaging Het
Mga T A 2: 119,733,178 (GRCm39) L9M probably damaging Het
Mov10l1 T C 15: 88,869,904 (GRCm39) probably null Het
Msrb1 A T 17: 24,958,533 (GRCm39) H39L possibly damaging Het
Or4c117 A T 2: 88,955,477 (GRCm39) F199L probably benign Het
Or6b1 A T 6: 42,815,027 (GRCm39) T71S probably benign Het
Pcdha1 G A 18: 37,065,312 (GRCm39) A659T possibly damaging Het
Pcm1 T A 8: 41,725,499 (GRCm39) probably null Het
Rfpl4b C A 10: 38,697,394 (GRCm39) C69F probably damaging Het
Tnn G A 1: 159,948,106 (GRCm39) T869I possibly damaging Het
Trp53i11 C A 2: 93,029,728 (GRCm39) L121I possibly damaging Het
Uimc1 A G 13: 55,223,661 (GRCm39) S204P probably damaging Het
Usp43 A T 11: 67,804,709 (GRCm39) N169K probably damaging Het
Vldlr A G 19: 27,217,243 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,579,030 (GRCm39) I834M probably damaging Het
Zbtb21 A G 16: 97,751,698 (GRCm39) S690P possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Ip6k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ip6k2 APN 9 108,682,943 (GRCm39) missense probably damaging 1.00
IGL01585:Ip6k2 APN 9 108,673,512 (GRCm39) missense probably damaging 1.00
IGL02377:Ip6k2 APN 9 108,681,798 (GRCm39) missense probably damaging 1.00
IGL02831:Ip6k2 APN 9 108,681,733 (GRCm39) unclassified probably benign
banting UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R0310:Ip6k2 UTSW 9 108,676,432 (GRCm39) splice site probably benign
R0541:Ip6k2 UTSW 9 108,681,826 (GRCm39) missense probably damaging 1.00
R2378:Ip6k2 UTSW 9 108,673,500 (GRCm39) splice site probably null
R4119:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4120:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4165:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4231:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4232:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4235:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4236:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4327:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R4328:Ip6k2 UTSW 9 108,682,847 (GRCm39) missense probably benign 0.07
R5019:Ip6k2 UTSW 9 108,674,945 (GRCm39) intron probably benign
R6017:Ip6k2 UTSW 9 108,674,466 (GRCm39) missense probably benign 0.01
R6688:Ip6k2 UTSW 9 108,683,210 (GRCm39) missense probably benign 0.00
R6971:Ip6k2 UTSW 9 108,674,510 (GRCm39) intron probably benign
R7150:Ip6k2 UTSW 9 108,673,930 (GRCm39) missense unknown
R8007:Ip6k2 UTSW 9 108,682,955 (GRCm39) missense probably benign 0.15
R8826:Ip6k2 UTSW 9 108,675,379 (GRCm39) critical splice donor site probably null
R9039:Ip6k2 UTSW 9 108,681,807 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGGTGTGGTATCAGTACGC -3'
(R):5'- GTCAACATCTTTTATAGCTGCCAC -3'

Sequencing Primer
(F):5'- TGGTATCAGTACGCTTTGAAGAAG -3'
(R):5'- ACTTCGGCTACTTATGCCTAATGG -3'
Posted On 2016-10-06