Incidental Mutation 'R0242:Ppip5k2'
ID 59518
Institutional Source Beutler Lab
Gene Symbol Ppip5k2
Ensembl Gene ENSMUSG00000040648
Gene Name diphosphoinositol pentakisphosphate kinase 2
Synonyms Hisppd1, Cfap160, Vip2
MMRRC Submission 038480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R0242 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 97633773-97698136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97668816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 532 (C532R)
Ref Sequence ENSEMBL: ENSMUSP00000108466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042509] [ENSMUST00000112845] [ENSMUST00000171129]
AlphaFold Q6ZQB6
Predicted Effect probably benign
Transcript: ENSMUST00000042509
AA Change: C538R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648
AA Change: C538R

DomainStartEndE-ValueType
low complexity region 29 41 N/A INTRINSIC
PDB:4NZO|A 42 366 N/A PDB
Pfam:His_Phos_2 379 894 2.9e-112 PFAM
low complexity region 1073 1092 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112845
AA Change: C532R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: C532R

DomainStartEndE-ValueType
low complexity region 29 41 N/A INTRINSIC
PDB:4NZO|A 42 366 N/A PDB
Pfam:His_Phos_2 379 894 6.9e-141 PFAM
low complexity region 993 1006 N/A INTRINSIC
low complexity region 1192 1211 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152788
Predicted Effect probably benign
Transcript: ENSMUST00000171129
AA Change: C532R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648
AA Change: C532R

DomainStartEndE-ValueType
low complexity region 29 41 N/A INTRINSIC
PDB:4NZO|A 42 366 N/A PDB
Pfam:His_Phos_2 379 894 2.9e-112 PFAM
low complexity region 1073 1092 N/A INTRINSIC
Meta Mutation Damage Score 0.7926 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 97% (110/113)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,676 (GRCm39) D230G probably benign Het
Abhd13 A G 8: 10,037,561 (GRCm39) I53V probably benign Het
Adgrl2 A C 3: 148,544,821 (GRCm39) probably null Het
Aldh16a1 G A 7: 44,794,088 (GRCm39) A596V probably damaging Het
Aldh3b2 T A 19: 4,029,414 (GRCm39) Y262* probably null Het
Ambn A G 5: 88,615,831 (GRCm39) Q420R possibly damaging Het
Ankib1 A C 5: 3,750,344 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,407 (GRCm39) H430Q probably benign Het
Arhgef25 C T 10: 127,019,933 (GRCm39) G435E probably damaging Het
Armc12 A T 17: 28,751,366 (GRCm39) D120V possibly damaging Het
Asxl3 G A 18: 22,649,738 (GRCm39) E576K possibly damaging Het
Bcdin3d T C 15: 99,368,776 (GRCm39) E141G probably benign Het
Bmpr1b G A 3: 141,546,437 (GRCm39) T483M probably damaging Het
Caprin2 C T 6: 148,744,452 (GRCm39) S991N probably damaging Het
Cd96 T C 16: 45,892,129 (GRCm39) I286M possibly damaging Het
Cdcp1 G T 9: 123,009,237 (GRCm39) F480L probably benign Het
Celf5 T C 10: 81,300,243 (GRCm39) T258A probably benign Het
Cgnl1 A G 9: 71,628,939 (GRCm39) V577A probably damaging Het
Clca3b A G 3: 144,547,226 (GRCm39) S304P probably benign Het
Cmya5 A T 13: 93,232,108 (GRCm39) H993Q probably benign Het
Cnbp A T 6: 87,822,746 (GRCm39) C6S probably damaging Het
Col14a1 C T 15: 55,360,907 (GRCm39) R1605W probably damaging Het
Cops7a T C 6: 124,941,817 (GRCm39) N11S probably benign Het
Coro7 T C 16: 4,448,042 (GRCm39) probably benign Het
Cpvl T C 6: 53,909,485 (GRCm39) H217R possibly damaging Het
Cuedc1 T C 11: 88,075,447 (GRCm39) probably benign Het
Cyp2c66 A G 19: 39,130,369 (GRCm39) Y68C probably damaging Het
Dicer1 G A 12: 104,668,710 (GRCm39) T1324M probably benign Het
Dlgap2 A G 8: 14,777,562 (GRCm39) D268G probably benign Het
Dnm1 T A 2: 32,207,001 (GRCm39) M535L possibly damaging Het
Dock7 A T 4: 98,850,517 (GRCm39) F1575Y probably benign Het
Dpp10 T A 1: 123,326,275 (GRCm39) H403L possibly damaging Het
Dync1h1 A G 12: 110,616,285 (GRCm39) D3112G possibly damaging Het
Eno3 A G 11: 70,548,761 (GRCm39) E21G probably null Het
Fam120b T A 17: 15,643,186 (GRCm39) V655D probably damaging Het
Fkbp5 A T 17: 28,647,426 (GRCm39) D136E probably benign Het
Gdap1l1 T A 2: 163,289,573 (GRCm39) Y179* probably null Het
Gfer A G 17: 24,913,277 (GRCm39) W192R probably damaging Het
Gm4782 A G 6: 50,586,838 (GRCm39) T408A probably benign Het
Golgb1 C T 16: 36,695,992 (GRCm39) Q164* probably null Het
Gpnmb A G 6: 49,024,276 (GRCm39) N197S probably damaging Het
Gtf2f1 G A 17: 57,310,802 (GRCm39) T414M probably benign Het
Hc A G 2: 34,926,166 (GRCm39) probably benign Het
Hcfc1 A T X: 72,992,035 (GRCm39) probably benign Het
Helz2 C T 2: 180,872,223 (GRCm39) R2539Q probably damaging Het
Hsd17b12 T A 2: 93,988,160 (GRCm39) I19F probably benign Het
Incenp T C 19: 9,871,114 (GRCm39) T172A unknown Het
Jmy A G 13: 93,578,126 (GRCm39) Y681H probably benign Het
Kbtbd11 A G 8: 15,077,508 (GRCm39) T36A probably benign Het
Kcnh4 T C 11: 100,646,525 (GRCm39) D267G probably damaging Het
Krt34 C T 11: 99,932,157 (GRCm39) E56K probably damaging Het
Krt40 T A 11: 99,429,568 (GRCm39) E335D probably damaging Het
Krt86 T A 15: 101,374,454 (GRCm39) Y282* probably null Het
Lgi3 C T 14: 70,772,255 (GRCm39) R267* probably null Het
Lnpk A G 2: 74,367,633 (GRCm39) probably benign Het
Lrp1b T A 2: 40,888,195 (GRCm39) H2355L probably benign Het
Lrrc8e G A 8: 4,285,401 (GRCm39) R542H probably benign Het
Mia2 T C 12: 59,155,642 (GRCm39) Y452H probably damaging Het
Mmachc C T 4: 116,561,738 (GRCm39) R132Q probably damaging Het
Mtbp T A 15: 55,440,882 (GRCm39) N356K possibly damaging Het
Myo5b A G 18: 74,794,787 (GRCm39) H552R possibly damaging Het
Niban1 A G 1: 151,593,967 (GRCm39) D884G probably benign Het
Noxred1 A G 12: 87,273,753 (GRCm39) V96A probably benign Het
Nr1d2 T A 14: 18,211,933 (GRCm38) D390V possibly damaging Het
Oas1e A T 5: 120,929,839 (GRCm39) probably benign Het
Odad2 A T 18: 7,211,516 (GRCm39) V786D probably damaging Het
Or1r1 T C 11: 73,874,538 (GRCm39) S299G probably benign Het
Or6c1b T A 10: 129,273,217 (GRCm39) Y179N probably damaging Het
Otog G T 7: 45,916,805 (GRCm39) C914F probably damaging Het
Pank2 G T 2: 131,122,117 (GRCm39) C214F probably damaging Het
Pcdhb1 T A 18: 37,399,788 (GRCm39) S580T probably benign Het
Pdia3 T C 2: 121,244,592 (GRCm39) S2P probably damaging Het
Peli1 G T 11: 21,092,602 (GRCm39) R83L probably damaging Het
Pla2g3 T A 11: 3,441,935 (GRCm39) C366* probably null Het
Pon3 T A 6: 5,240,860 (GRCm39) D107V probably benign Het
Prph A T 15: 98,953,608 (GRCm39) D174V probably damaging Het
Psd3 A G 8: 68,210,738 (GRCm39) M270T probably damaging Het
Pum3 A G 19: 27,400,155 (GRCm39) probably benign Het
Pus1 A T 5: 110,927,664 (GRCm39) H30Q probably benign Het
Pwwp3a T C 10: 80,070,092 (GRCm39) S354P probably benign Het
Rab7 A T 6: 87,982,114 (GRCm39) V87E probably damaging Het
Rbm5 A T 9: 107,628,907 (GRCm39) probably benign Het
Reln A G 5: 22,147,595 (GRCm39) probably null Het
S1pr3 A G 13: 51,572,938 (GRCm39) T40A probably benign Het
Sdk1 T A 5: 142,129,677 (GRCm39) probably benign Het
Senp7 T A 16: 55,999,884 (GRCm39) I853N probably damaging Het
Serpinb6c T A 13: 34,083,230 (GRCm39) probably benign Het
Shroom1 T G 11: 53,356,312 (GRCm39) probably null Het
Slc24a3 T C 2: 145,448,584 (GRCm39) I376T probably benign Het
Slc46a1 T C 11: 78,359,493 (GRCm39) I375T possibly damaging Het
Slc4a9 T C 18: 36,666,733 (GRCm39) F527S probably damaging Het
Slc4a9 T A 18: 36,674,286 (GRCm39) I924N probably damaging Het
Slx4 T A 16: 3,804,816 (GRCm39) E666V probably damaging Het
Snrnp27 G A 6: 86,652,575 (GRCm39) probably benign Het
Sorcs1 C T 19: 50,216,659 (GRCm39) G640E probably damaging Het
Spmap2l G T 5: 77,164,152 (GRCm39) E52* probably null Het
Sptan1 A T 2: 29,908,413 (GRCm39) M1725L probably benign Het
Sync G A 4: 129,187,514 (GRCm39) R182K probably damaging Het
Syne2 G A 12: 76,144,808 (GRCm39) G1586S probably damaging Het
Sytl1 G T 4: 132,980,768 (GRCm39) T522K probably damaging Het
Tex2 T A 11: 106,410,781 (GRCm39) K414* probably null Het
Tex55 C T 16: 38,644,929 (GRCm39) probably benign Het
Thsd7a G A 6: 12,503,915 (GRCm39) T413I probably benign Het
Tm9sf1 C T 14: 55,875,392 (GRCm39) A451T possibly damaging Het
Ttn A T 2: 76,656,496 (GRCm39) probably benign Het
Uba2 T C 7: 33,854,054 (GRCm39) I140V possibly damaging Het
Ushbp1 C A 8: 71,842,762 (GRCm39) G361* probably null Het
Wbp2nl C T 15: 82,197,988 (GRCm39) A175V probably benign Het
Zc3h12d A G 10: 7,738,330 (GRCm39) E212G probably damaging Het
Zc3h7b T C 15: 81,653,031 (GRCm39) probably benign Het
Other mutations in Ppip5k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01927:Ppip5k2 APN 1 97,640,848 (GRCm39) missense probably damaging 1.00
IGL02266:Ppip5k2 APN 1 97,661,697 (GRCm39) missense possibly damaging 0.68
IGL02705:Ppip5k2 APN 1 97,686,924 (GRCm39) missense probably damaging 1.00
IGL03229:Ppip5k2 APN 1 97,656,686 (GRCm39) missense probably damaging 1.00
P0033:Ppip5k2 UTSW 1 97,645,253 (GRCm39) missense probably damaging 0.98
R0082:Ppip5k2 UTSW 1 97,687,057 (GRCm39) nonsense probably null
R0242:Ppip5k2 UTSW 1 97,668,816 (GRCm39) missense probably damaging 1.00
R0267:Ppip5k2 UTSW 1 97,656,722 (GRCm39) missense probably damaging 1.00
R0281:Ppip5k2 UTSW 1 97,644,278 (GRCm39) missense possibly damaging 0.95
R0373:Ppip5k2 UTSW 1 97,668,262 (GRCm39) nonsense probably null
R0402:Ppip5k2 UTSW 1 97,647,579 (GRCm39) missense probably benign 0.00
R0423:Ppip5k2 UTSW 1 97,689,152 (GRCm39) missense possibly damaging 0.95
R0613:Ppip5k2 UTSW 1 97,680,465 (GRCm39) nonsense probably null
R0751:Ppip5k2 UTSW 1 97,677,377 (GRCm39) nonsense probably null
R1121:Ppip5k2 UTSW 1 97,684,585 (GRCm39) missense probably damaging 1.00
R1265:Ppip5k2 UTSW 1 97,647,625 (GRCm39) missense probably benign 0.00
R1436:Ppip5k2 UTSW 1 97,639,507 (GRCm39) missense probably benign 0.04
R1543:Ppip5k2 UTSW 1 97,668,607 (GRCm39) missense probably damaging 1.00
R1739:Ppip5k2 UTSW 1 97,656,682 (GRCm39) missense probably damaging 1.00
R1845:Ppip5k2 UTSW 1 97,651,531 (GRCm39) missense possibly damaging 0.74
R2191:Ppip5k2 UTSW 1 97,671,835 (GRCm39) missense probably damaging 0.99
R2430:Ppip5k2 UTSW 1 97,662,755 (GRCm39) missense probably damaging 1.00
R2762:Ppip5k2 UTSW 1 97,645,234 (GRCm39) missense probably damaging 1.00
R3014:Ppip5k2 UTSW 1 97,671,800 (GRCm39) missense probably damaging 0.99
R3759:Ppip5k2 UTSW 1 97,683,610 (GRCm39) critical splice donor site probably null
R4603:Ppip5k2 UTSW 1 97,682,861 (GRCm39) missense probably damaging 1.00
R4772:Ppip5k2 UTSW 1 97,648,792 (GRCm39) unclassified probably benign
R4951:Ppip5k2 UTSW 1 97,639,474 (GRCm39) missense possibly damaging 0.77
R5348:Ppip5k2 UTSW 1 97,675,317 (GRCm39) missense possibly damaging 0.94
R5350:Ppip5k2 UTSW 1 97,648,853 (GRCm39) missense probably damaging 0.98
R5584:Ppip5k2 UTSW 1 97,678,366 (GRCm39) missense probably damaging 1.00
R5599:Ppip5k2 UTSW 1 97,668,323 (GRCm39) missense probably damaging 1.00
R5883:Ppip5k2 UTSW 1 97,635,535 (GRCm39) missense possibly damaging 0.53
R5898:Ppip5k2 UTSW 1 97,671,887 (GRCm39) intron probably benign
R6184:Ppip5k2 UTSW 1 97,661,730 (GRCm39) missense possibly damaging 0.89
R6221:Ppip5k2 UTSW 1 97,657,753 (GRCm39) missense probably damaging 1.00
R6775:Ppip5k2 UTSW 1 97,647,585 (GRCm39) missense possibly damaging 0.49
R7250:Ppip5k2 UTSW 1 97,673,187 (GRCm39) missense probably benign 0.00
R7329:Ppip5k2 UTSW 1 97,678,478 (GRCm39) splice site probably null
R7357:Ppip5k2 UTSW 1 97,686,941 (GRCm39) missense possibly damaging 0.91
R7852:Ppip5k2 UTSW 1 97,668,896 (GRCm39) missense probably damaging 0.99
R7884:Ppip5k2 UTSW 1 97,668,207 (GRCm39) missense probably benign 0.00
R8006:Ppip5k2 UTSW 1 97,661,831 (GRCm39) missense probably benign 0.00
R8134:Ppip5k2 UTSW 1 97,672,888 (GRCm39) missense probably benign 0.12
R8274:Ppip5k2 UTSW 1 97,686,941 (GRCm39) missense possibly damaging 0.91
R8436:Ppip5k2 UTSW 1 97,683,613 (GRCm39) missense probably benign
R8440:Ppip5k2 UTSW 1 97,675,276 (GRCm39) missense probably damaging 0.99
R8895:Ppip5k2 UTSW 1 97,639,544 (GRCm39) missense probably benign
R9017:Ppip5k2 UTSW 1 97,655,139 (GRCm39) missense probably damaging 1.00
R9061:Ppip5k2 UTSW 1 97,645,187 (GRCm39) missense probably damaging 1.00
R9441:Ppip5k2 UTSW 1 97,672,921 (GRCm39) missense probably benign 0.00
R9533:Ppip5k2 UTSW 1 97,661,792 (GRCm39) missense probably benign 0.11
R9715:Ppip5k2 UTSW 1 97,677,312 (GRCm39) missense
R9792:Ppip5k2 UTSW 1 97,671,822 (GRCm39) nonsense probably null
R9793:Ppip5k2 UTSW 1 97,671,822 (GRCm39) nonsense probably null
R9795:Ppip5k2 UTSW 1 97,671,822 (GRCm39) nonsense probably null
Z1177:Ppip5k2 UTSW 1 97,644,330 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGTAGTCGGAGTAAACCACAACCAGG -3'
(R):5'- TTCCCCTCAGGTAAGCAAGACTGAGC -3'

Sequencing Primer
(F):5'- AGGAAATCCTGCATAATCTCCTG -3'
(R):5'- ATACCAGCCTGTGTTGAAGC -3'
Posted On 2013-07-11