Incidental Mutation 'R4772:Ppip5k2'
ID 367570
Institutional Source Beutler Lab
Gene Symbol Ppip5k2
Ensembl Gene ENSMUSG00000040648
Gene Name diphosphoinositol pentakisphosphate kinase 2
Synonyms Hisppd1, Cfap160, Vip2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R4772 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 97633773-97698136 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 97648792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000042509] [ENSMUST00000112845] [ENSMUST00000171129]
AlphaFold Q6ZQB6
Predicted Effect probably benign
Transcript: ENSMUST00000042509
SMART Domains Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648

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 benign
Transcript: ENSMUST00000112845
SMART Domains Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648

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 probably benign
Transcript: ENSMUST00000171129
SMART Domains Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648

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 noncoding transcript
Transcript: ENSMUST00000189992
Predicted Effect probably benign
Transcript: ENSMUST00000191556
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 95% (74/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,265,339 (GRCm39) probably null Het
Adamts19 A G 18: 58,970,848 (GRCm39) Q144R possibly damaging Het
Adgrb3 C A 1: 25,570,956 (GRCm39) C507F probably damaging Het
Atg9b T C 5: 24,590,237 (GRCm39) *923W probably null Het
Atp13a4 T C 16: 29,239,653 (GRCm39) probably benign Het
Baz2b G T 2: 59,788,795 (GRCm39) R697S probably damaging Het
Bicdl1 A G 5: 115,799,537 (GRCm39) I184T probably benign Het
Bpifb4 C T 2: 153,784,903 (GRCm39) L204F possibly damaging Het
Cep120 C T 18: 53,851,561 (GRCm39) R577Q probably damaging Het
Cplx4 T C 18: 66,103,048 (GRCm39) E24G possibly damaging Het
Dcxr T C 11: 120,616,923 (GRCm39) T147A probably benign Het
Dnajc10 C A 2: 80,170,870 (GRCm39) H454N probably damaging Het
Dsp G T 13: 38,351,504 (GRCm39) G108* probably null Het
Entpd6 T A 2: 150,609,014 (GRCm39) I366K probably damaging Het
Fam111a A G 19: 12,565,057 (GRCm39) K269E probably benign Het
Grid2ip T G 5: 143,361,455 (GRCm39) V222G possibly damaging Het
Hmcn2 T G 2: 31,335,326 (GRCm39) V4421G probably benign Het
Ifi207 T C 1: 173,555,253 (GRCm39) T817A probably damaging Het
Irak2 A T 6: 113,670,683 (GRCm39) E533V probably damaging Het
Katnip A G 7: 125,464,523 (GRCm39) S1297G probably damaging Het
Kbtbd6 T C 14: 79,689,596 (GRCm39) F97S probably damaging Het
Kctd14 A T 7: 97,106,883 (GRCm39) E99V probably damaging Het
Klhl10 A T 11: 100,338,557 (GRCm39) Y432F probably benign Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mief2 T A 11: 60,621,288 (GRCm39) probably benign Het
Mog A T 17: 37,334,049 (GRCm39) S15T unknown Het
Mpi T C 9: 57,452,181 (GRCm39) D365G probably damaging Het
Mpp7 A G 18: 7,379,983 (GRCm39) probably null Het
Nes A G 3: 87,883,486 (GRCm39) T582A probably benign Het
Nlrp14 A G 7: 106,780,393 (GRCm39) D5G probably benign Het
Nr1i3 C T 1: 171,044,719 (GRCm39) T218I probably damaging Het
Nup43 C T 10: 7,554,433 (GRCm39) R339* probably null Het
Nup58 T A 14: 60,457,471 (GRCm39) R577S probably benign Het
Olfr908 C T 9: 38,427,897 (GRCm39) probably benign Het
Or4l15 AAATTTGAA AAA 14: 50,198,452 (GRCm39) probably benign Het
Or52n4b T A 7: 108,144,092 (GRCm39) M120K probably damaging Het
Or5d35 T A 2: 87,855,207 (GRCm39) I47K probably damaging Het
Or6c38 A T 10: 128,929,537 (GRCm39) V102D possibly damaging Het
Or9g20 G A 2: 85,630,338 (GRCm39) S92F probably damaging Het
Orc1 T C 4: 108,436,765 (GRCm39) probably benign Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Phactr3 C T 2: 177,925,729 (GRCm39) R330W probably damaging Het
Phldb1 G A 9: 44,622,324 (GRCm39) R81W probably damaging Het
Pip5k1c C T 10: 81,151,774 (GRCm39) P656L probably benign Het
Pkn3 T G 2: 29,974,692 (GRCm39) probably null Het
Plcb2 T A 2: 118,543,615 (GRCm39) H752L probably benign Het
Plch1 G A 3: 63,660,746 (GRCm39) T291M probably damaging Het
Plekhg1 A T 10: 3,823,127 (GRCm39) M32L probably benign Het
Plekhg1 A T 10: 3,823,130 (GRCm39) T33S probably damaging Het
Plk4 A G 3: 40,759,625 (GRCm39) T174A probably damaging Het
Prl2a1 G A 13: 27,988,961 (GRCm39) V29M probably benign Het
R3hcc1l T C 19: 42,571,996 (GRCm39) probably benign Het
Rasa3 C T 8: 13,648,289 (GRCm39) G125D probably damaging Het
Sema3f A T 9: 107,566,919 (GRCm39) Y136* probably null Het
Slc13a5 T A 11: 72,141,672 (GRCm39) probably null Het
Slc16a1 T C 3: 104,560,880 (GRCm39) V395A possibly damaging Het
Sparcl1 C T 5: 104,236,356 (GRCm39) A466T probably benign Het
Srrm1 G A 4: 135,069,690 (GRCm39) probably benign Het
Styxl1 G A 5: 135,797,755 (GRCm39) R50* probably null Het
Tex264 T A 9: 106,550,901 (GRCm39) I99F possibly damaging Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmem245 A C 4: 56,937,989 (GRCm39) probably null Het
Tnik A T 3: 28,661,359 (GRCm39) T587S probably benign Het
Tpr T G 1: 150,288,864 (GRCm39) S648A possibly damaging Het
Ttn T C 2: 76,596,313 (GRCm39) E18454G probably damaging Het
Utp20 A C 10: 88,645,797 (GRCm39) H527Q probably benign Het
Vmn1r1 A T 1: 181,985,111 (GRCm39) S185T probably benign Het
Vps54 C T 11: 21,262,952 (GRCm39) H680Y probably damaging Het
Vwa5b2 A G 16: 20,419,553 (GRCm39) probably null Het
Wscd1 T C 11: 71,662,802 (GRCm39) probably null Het
Zbtb41 C T 1: 139,375,152 (GRCm39) P871S probably damaging Het
Zcchc4 T C 5: 52,953,549 (GRCm39) L186P possibly damaging Het
Zdhhc13 A G 7: 48,449,621 (GRCm39) Y73C probably benign Het
Zfp12 A G 5: 143,225,755 (GRCm39) E21G probably damaging 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
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
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'- TGTTAGCATGGCTACAAACCC -3'
(R):5'- CTGGCTGCATTATACCAGTGG -3'

Sequencing Primer
(F):5'- CCTGTATATTTAAAAGCTCCCCAGTG -3'
(R):5'- CATTATACCAGTGGTGTGGGTAC -3'
Posted On 2015-12-29