Incidental Mutation 'R4120:Ip6k2'
ID 315281
Institutional Source Beutler Lab
Gene Symbol Ip6k2
Ensembl Gene ENSMUSG00000032599
Gene Name inositol hexaphosphate kinase 2
Synonyms Ihpk2, 1500005N04Rik
MMRRC Submission 040993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4120 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108660995-108683536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108682847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 319 (R319Q)
Ref Sequence ENSEMBL: ENSMUSP00000082091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000085018] [ENSMUST00000193560] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q80V72
Predicted Effect probably benign
Transcript: ENSMUST00000035218
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598

DomainStartEndE-ValueType
SH3 1 57 2.21e-9 SMART
low complexity region 162 179 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
low complexity region 230 240 N/A INTRINSIC
low complexity region 249 271 N/A INTRINSIC
low complexity region 288 298 N/A INTRINSIC
Pfam:DUF2013 539 675 5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085018
AA Change: R319Q

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
AA Change: R319Q

DomainStartEndE-ValueType
Pfam:IPK 225 440 2.7e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193560
AA Change: R273Q

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
AA Change: R273Q

DomainStartEndE-ValueType
Pfam:IPK 179 394 1.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194819
SMART Domains Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598

DomainStartEndE-ValueType
SH3 1 52 3.3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195323
SMART Domains Protein: ENSMUSP00000141728
Gene: ENSMUSG00000032598

DomainStartEndE-ValueType
SH3 1 57 1.4e-11 SMART
Meta Mutation Damage Score 0.0919 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (55/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,133,388 (GRCm39) E1233* probably null Het
Afap1l1 T C 18: 61,872,243 (GRCm39) D526G probably damaging Het
Ago4 A G 4: 126,390,600 (GRCm39) Y807H probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap40 A G 2: 158,374,250 (GRCm39) M222V probably benign Het
Asnsd1 A G 1: 53,387,154 (GRCm39) S158P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Clca3a2 T C 3: 144,516,613 (GRCm39) M328V probably benign Het
Col4a1 G A 8: 11,256,263 (GRCm39) P1535S unknown Het
Dennd2a G A 6: 39,442,030 (GRCm39) R947C probably damaging Het
Dlg2 G A 7: 91,614,846 (GRCm39) V217I probably damaging Het
Dnaaf2 T C 12: 69,244,812 (GRCm39) D83G possibly damaging Het
Dppa5a A T 9: 78,275,137 (GRCm39) M55K possibly damaging Het
Ect2l A G 10: 18,006,466 (GRCm39) V779A probably benign Het
Ehhadh A G 16: 21,581,934 (GRCm39) S353P probably benign Het
Etv3 A G 3: 87,443,589 (GRCm39) D391G probably benign Het
Fastkd1 T A 2: 69,537,654 (GRCm39) K309N probably damaging Het
Fip1l1 T A 5: 74,748,852 (GRCm39) Y375N probably damaging Het
Flvcr2 T C 12: 85,832,903 (GRCm39) S308P probably benign Het
Fyco1 T C 9: 123,654,691 (GRCm39) Y1065C probably benign Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Gm17175 A T 14: 51,810,534 (GRCm39) I31N probably damaging Het
Gm6003 T A 7: 32,864,976 (GRCm39) noncoding transcript Het
Gm9951 T C 8: 34,522,993 (GRCm39) noncoding transcript Het
Hspa2 A G 12: 76,452,008 (GRCm39) E234G probably damaging Het
Iqsec1 A T 6: 90,639,584 (GRCm39) Y1065* probably null Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Map2 G A 1: 66,455,063 (GRCm39) A1318T probably damaging Het
Mas1 A T 17: 13,061,233 (GRCm39) N63K probably damaging Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nav3 A G 10: 109,739,605 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,133,359 (GRCm39) noncoding transcript Het
Oca2 A T 7: 55,904,630 (GRCm39) D32V probably damaging Het
Or51v8 T C 7: 103,320,221 (GRCm39) T6A probably benign Het
Or8b9 T C 9: 37,766,705 (GRCm39) L197S possibly damaging Het
Otub2 T C 12: 103,370,489 (GRCm39) V257A probably damaging Het
Pink1 G A 4: 138,042,822 (GRCm39) R461* probably null Het
Plxna2 T C 1: 194,462,935 (GRCm39) C901R probably damaging Het
Ptchd3 T A 11: 121,721,572 (GRCm39) N148K probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Sec13 T C 6: 113,711,637 (GRCm39) N107S probably damaging Het
Slc12a2 A G 18: 58,032,427 (GRCm39) M376V possibly damaging Het
Sp140l2 C T 1: 85,237,542 (GRCm39) V81M possibly damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Stradb T A 1: 59,019,168 (GRCm39) Y30N possibly damaging Het
Syne1 T A 10: 5,359,798 (GRCm39) Q328L probably damaging Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Vmn2r100 T C 17: 19,752,215 (GRCm39) S753P probably damaging Het
Vmn2r129 G T 4: 156,686,778 (GRCm39) noncoding transcript Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp936 A G 7: 42,839,630 (GRCm39) T366A probably benign Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly 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
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'- ATCGCCTGTGTTCACCCAATG -3'
(R):5'- ATGGGCTTGTAGGCATAGGC -3'

Sequencing Primer
(F):5'- CAATGGGTAGGTTTTGAAATGGCCC -3'
(R):5'- TTGTAGGCATAGGCACCGG -3'
Posted On 2015-05-14