Incidental Mutation 'R7007:Ippk'
ID 568355
Institutional Source Beutler Lab
Gene Symbol Ippk
Ensembl Gene ENSMUSG00000021385
Gene Name inositol 1,3,4,5,6-pentakisphosphate 2-kinase
Synonyms 1810043M15Rik
MMRRC Submission 045109-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7007 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 49574725-49618049 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 49590181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021817] [ENSMUST00000220447] [ENSMUST00000220856]
AlphaFold Q6P1C1
Predicted Effect probably null
Transcript: ENSMUST00000021817
SMART Domains Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385

DomainStartEndE-ValueType
Pfam:Ins_P5_2-kin 13 455 1.9e-96 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000220447
Predicted Effect probably benign
Transcript: ENSMUST00000220856
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (63/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a gene trap insertion die prior to E8.5. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,121 (GRCm39) T57I probably benign Het
Adcy8 T C 15: 64,576,565 (GRCm39) N999S possibly damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Akap3 A G 6: 126,843,439 (GRCm39) D686G probably damaging Het
Alg2 A T 4: 47,471,881 (GRCm39) I309N probably benign Het
Ankrd36 A G 11: 5,639,168 (GRCm39) E1360G probably benign Het
Aox1 C A 1: 58,370,051 (GRCm39) Q788K probably damaging Het
Apoc2 A T 7: 19,407,282 (GRCm39) D26E possibly damaging Het
Bbx G A 16: 50,022,851 (GRCm39) T703I possibly damaging Het
C2cd4d T C 3: 94,271,378 (GRCm39) Y215H probably benign Het
C3 C T 17: 57,525,809 (GRCm39) E858K probably benign Het
Ciita T C 16: 10,329,171 (GRCm39) L482P probably damaging Het
Cldn9 T C 17: 23,902,052 (GRCm39) E191G probably benign Het
Cnst T A 1: 179,438,133 (GRCm39) S566T probably damaging Het
Col5a2 A G 1: 45,417,609 (GRCm39) I1322T possibly damaging Het
Cp G A 3: 20,024,137 (GRCm39) V326M probably damaging Het
Cyp7b1 G A 3: 18,151,782 (GRCm39) Q144* probably null Het
Dnah10 T C 5: 124,864,490 (GRCm39) S2232P probably damaging Het
Dnah17 T C 11: 118,009,697 (GRCm39) E625G possibly damaging Het
Dnah7c T A 1: 46,571,910 (GRCm39) D794E probably benign Het
Dusp10 G A 1: 183,769,414 (GRCm39) V127M probably benign Het
Dysf G C 6: 84,090,962 (GRCm39) W1015C probably damaging Het
Fbxw17 T C 13: 50,577,808 (GRCm39) Y104H probably damaging Het
Gm6408 G A 5: 146,420,647 (GRCm39) E176K probably damaging Het
Gp1bb T A 16: 18,439,689 (GRCm39) D135V possibly damaging Het
Gprin1 C T 13: 54,886,069 (GRCm39) C735Y probably damaging Het
Heatr9 T A 11: 83,411,446 (GRCm39) M30L possibly damaging Het
Hhat G A 1: 192,376,134 (GRCm39) T333I possibly damaging Het
Htr5b A G 1: 121,438,223 (GRCm39) F336S probably damaging Het
Jph1 T A 1: 17,074,410 (GRCm39) H11L possibly damaging Het
Kif12 T A 4: 63,084,717 (GRCm39) I534L probably benign Het
Lemd3 A T 10: 120,788,137 (GRCm39) F523I probably benign Het
Lgsn C A 1: 31,229,508 (GRCm39) H76Q probably benign Het
Lipm T A 19: 34,089,497 (GRCm39) W152R probably damaging Het
Mei1 A T 15: 81,978,200 (GRCm39) R216W probably damaging Het
Mybpc1 C T 10: 88,389,274 (GRCm39) G379S probably damaging Het
Myh8 A G 11: 67,179,142 (GRCm39) T512A probably benign Het
Nf1 A G 11: 79,337,849 (GRCm39) probably null Het
Npc1 T C 18: 12,343,605 (GRCm39) T463A probably benign Het
Or12e10 A G 2: 87,640,230 (GRCm39) N22S probably damaging Het
Or2y13 G A 11: 49,415,011 (GRCm39) V154M probably benign Het
Or6c7 A T 10: 129,323,277 (GRCm39) I133F probably damaging Het
Osbpl11 T G 16: 33,047,309 (GRCm39) I424R possibly damaging Het
Pnma8b A T 7: 16,680,181 (GRCm39) K388N possibly damaging Het
Ppp1r26 A T 2: 28,341,171 (GRCm39) K267I probably damaging Het
Psmb5 A T 14: 54,854,166 (GRCm39) M104K probably damaging Het
Ptges2 T C 2: 32,292,318 (GRCm39) V378A probably benign Het
Rcan2 C T 17: 44,147,216 (GRCm39) S18F probably benign Het
Saxo5 A T 8: 3,526,309 (GRCm39) D154V probably damaging Het
Sf3b2 C T 19: 5,324,545 (GRCm39) R859Q probably benign Het
Slc7a1 G A 5: 148,289,256 (GRCm39) Het
Spata31d1a T A 13: 59,851,448 (GRCm39) T227S probably benign Het
Sptbn2 T A 19: 4,794,173 (GRCm39) V1459E possibly damaging Het
Srgap2 T C 1: 131,247,275 (GRCm39) I586V probably benign Het
St6galnac1 G A 11: 116,657,833 (GRCm39) R356* probably null Het
Taf5 T A 19: 47,059,650 (GRCm39) F265I probably damaging Het
Tkfc T A 19: 10,573,727 (GRCm39) I229L probably benign Het
Tmem132c T A 5: 127,436,679 (GRCm39) L56Q probably damaging Het
Togaram2 C T 17: 72,016,638 (GRCm39) A665V probably damaging Het
Ttn G A 2: 76,537,390 (GRCm39) T34846I probably benign Het
Tyr G A 7: 87,142,548 (GRCm39) A4V probably benign Het
Ubap2 A C 4: 41,206,221 (GRCm39) F549L probably damaging Het
Usp2 T C 9: 44,001,339 (GRCm39) S294P probably damaging Het
Vrk3 A G 7: 44,407,187 (GRCm39) N53D probably damaging Het
Zfp324 T C 7: 12,705,142 (GRCm39) S444P probably damaging Het
Zfp597 T C 16: 3,683,791 (GRCm39) I322V probably benign Het
Other mutations in Ippk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Ippk APN 13 49,602,740 (GRCm39) missense probably damaging 1.00
IGL01994:Ippk APN 13 49,612,093 (GRCm39) missense possibly damaging 0.94
IGL02165:Ippk APN 13 49,600,011 (GRCm39) missense possibly damaging 0.78
IGL02577:Ippk APN 13 49,615,134 (GRCm39) missense possibly damaging 0.86
IGL03181:Ippk APN 13 49,595,463 (GRCm39) missense probably damaging 1.00
1mM(1):Ippk UTSW 13 49,588,967 (GRCm39) missense probably damaging 1.00
R0467:Ippk UTSW 13 49,584,341 (GRCm39) splice site probably null
R0811:Ippk UTSW 13 49,596,947 (GRCm39) missense probably damaging 1.00
R0812:Ippk UTSW 13 49,596,947 (GRCm39) missense probably damaging 1.00
R1491:Ippk UTSW 13 49,615,069 (GRCm39) missense probably benign 0.16
R1621:Ippk UTSW 13 49,615,044 (GRCm39) missense probably benign 0.15
R1930:Ippk UTSW 13 49,603,494 (GRCm39) missense probably damaging 1.00
R4081:Ippk UTSW 13 49,599,852 (GRCm39) missense probably damaging 1.00
R5815:Ippk UTSW 13 49,599,839 (GRCm39) missense probably damaging 1.00
R7069:Ippk UTSW 13 49,615,219 (GRCm39) missense probably damaging 0.99
R7258:Ippk UTSW 13 49,587,338 (GRCm39) missense probably benign 0.02
R7337:Ippk UTSW 13 49,602,767 (GRCm39) missense probably benign 0.39
R7466:Ippk UTSW 13 49,585,943 (GRCm39) critical splice donor site probably null
R7794:Ippk UTSW 13 49,599,818 (GRCm39) missense
R7848:Ippk UTSW 13 49,596,972 (GRCm39) critical splice donor site probably null
R8112:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8113:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8115:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8116:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8117:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8118:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8245:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8378:Ippk UTSW 13 49,589,055 (GRCm39) nonsense probably null
R8395:Ippk UTSW 13 49,615,096 (GRCm39) missense probably damaging 0.99
R8549:Ippk UTSW 13 49,615,177 (GRCm39) missense probably benign 0.00
R8912:Ippk UTSW 13 49,603,513 (GRCm39) missense probably damaging 0.98
R9351:Ippk UTSW 13 49,615,107 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AAAGCTGCTCTGTCTTAAACTCC -3'
(R):5'- TCTGAAAACTCCAAGAGGCTTCC -3'

Sequencing Primer
(F):5'- TGTCTTAAACTCCTGTAAGCCAG -3'
(R):5'- TTCCCTCGGGCCCAGATG -3'
Posted On 2019-07-03