Incidental Mutation 'R2378:Ip6k2'
ID 248352
Institutional Source Beutler Lab
Gene Symbol Ip6k2
Ensembl Gene ENSMUSG00000032599
Gene Name inositol hexaphosphate kinase 2
Synonyms Ihpk2, 1500005N04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2378 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108660995-108683536 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 108673500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000085018] [ENSMUST00000192028] [ENSMUST00000192226] [ENSMUST00000192307] [ENSMUST00000193560] [ENSMUST00000194782] [ENSMUST00000195514] [ENSMUST00000194875]
AlphaFold Q80V72
Predicted Effect probably damaging
Transcript: ENSMUST00000085018
AA Change: N36S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
AA Change: N36S

DomainStartEndE-ValueType
Pfam:IPK 225 440 2.7e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158001
Predicted Effect probably damaging
Transcript: ENSMUST00000192028
AA Change: N36S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000192226
AA Change: N36S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably damaging
Transcript: ENSMUST00000192307
AA Change: N36S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably null
Transcript: ENSMUST00000193055
Predicted Effect probably damaging
Transcript: ENSMUST00000193560
AA Change: N36S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
AA Change: N36S

DomainStartEndE-ValueType
Pfam:IPK 179 394 1.6e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194782
AA Change: N36S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000195514
AA Change: N36S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000194875
AA Change: N36S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142239
Gene: ENSMUSG00000032599
AA Change: N36S

DomainStartEndE-ValueType
low complexity region 72 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193634
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.1%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AK157302 T C 13: 21,679,732 (GRCm39) I86T possibly damaging Het
Akr1cl A T 1: 65,061,147 (GRCm39) M124K probably benign Het
Asap2 T C 12: 21,304,319 (GRCm39) L745P possibly damaging Het
B3gnt9 G A 8: 105,981,116 (GRCm39) R91C probably damaging Het
Capg C T 6: 72,532,474 (GRCm39) P13L probably benign Het
Eif3c C T 7: 126,151,497 (GRCm39) R609H probably damaging Het
Ephb3 A G 16: 21,036,993 (GRCm39) H152R probably benign Het
Gbp9 T C 5: 105,228,042 (GRCm39) D580G probably benign Het
Iars2 A G 1: 185,059,918 (GRCm39) Y97H probably damaging Het
Itih2 T A 2: 10,099,698 (GRCm39) D907V probably damaging Het
Lrrc37 A G 11: 103,510,537 (GRCm39) probably benign Het
Msh4 A G 3: 153,569,114 (GRCm39) C732R probably damaging Het
Mtss2 T C 8: 111,464,981 (GRCm39) F474L probably damaging Het
Nbeal2 T C 9: 110,459,876 (GRCm39) E1175G probably damaging Het
Pgm3 A T 9: 86,444,720 (GRCm39) C272S probably damaging Het
R3hcc1l T A 19: 42,551,912 (GRCm39) I303N probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spsb3 A G 17: 25,105,924 (GRCm39) probably benign Het
Tgfbr2 G A 9: 115,959,018 (GRCm39) T132I probably benign Het
Tpp2 A T 1: 44,038,925 (GRCm39) E223V probably damaging Het
Ttn T A 2: 76,719,794 (GRCm39) probably benign Het
Vmn2r102 T G 17: 19,914,930 (GRCm39) L832V 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
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
R5466:Ip6k2 UTSW 9 108,675,661 (GRCm39) missense probably damaging 1.00
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'- GCTGAGATCAAACAGGTGGC -3'
(R):5'- GAGCAATCTTACCAGGGCTTG -3'

Sequencing Primer
(F):5'- TCAAACAGGTGGCTGTAAGGAC -3'
(R):5'- TCTTACCAGGGCTTGAAAATTGAGG -3'
Posted On 2014-11-11