Incidental Mutation 'R0363:Ppip5k1'
ID 30166
Institutional Source Beutler Lab
Gene Symbol Ppip5k1
Ensembl Gene ENSMUSG00000033526
Gene Name diphosphoinositol pentakisphosphate kinase 1
Synonyms B430315C20Rik, Hisppd2a
MMRRC Submission 038569-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R0363 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 121141042-121185877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 121177836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 324 (A324P)
Ref Sequence ENSEMBL: ENSMUSP00000106258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000134796]
AlphaFold A2ARP1
Predicted Effect probably damaging
Transcript: ENSMUST00000052029
AA Change: A324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: A324P

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 8.8e-110 PFAM
low complexity region 1163 1181 N/A INTRINSIC
coiled coil region 1402 1430 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110625
AA Change: A324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: A324P

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 8.5e-110 PFAM
low complexity region 1142 1160 N/A INTRINSIC
coiled coil region 1381 1409 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110626
AA Change: A324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: A324P

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 1.1e-135 PFAM
low complexity region 1163 1181 N/A INTRINSIC
coiled coil region 1402 1430 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110627
AA Change: A324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: A324P

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 8.5e-110 PFAM
low complexity region 1142 1160 N/A INTRINSIC
coiled coil region 1381 1409 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110628
AA Change: A324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: A324P

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 886 3.9e-101 PFAM
low complexity region 1143 1161 N/A INTRINSIC
coiled coil region 1382 1410 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134644
Predicted Effect probably benign
Transcript: ENSMUST00000137087
SMART Domains Protein: ENSMUSP00000115051
Gene: ENSMUSG00000033526

DomainStartEndE-ValueType
PDB:4NZO|A 2 67 3e-29 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000134796
Meta Mutation Damage Score 0.7350 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.5%
Validation Efficiency 98% (78/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik T A 4: 109,381,520 (GRCm39) Q86L probably null Het
Abhd2 A G 7: 79,000,561 (GRCm39) D262G possibly damaging Het
Abhd5 T C 9: 122,197,211 (GRCm39) F133L possibly damaging Het
Agap2 T A 10: 126,926,834 (GRCm39) V957E probably damaging Het
Ankrd12 T C 17: 66,292,676 (GRCm39) K919R probably damaging Het
Ap1m1 T C 8: 73,006,738 (GRCm39) S245P probably benign Het
Ap1m1 T C 8: 73,010,568 (GRCm39) probably benign Het
Apcdd1 A G 18: 63,070,168 (GRCm39) Y145C possibly damaging Het
Apob A T 12: 8,060,136 (GRCm39) N2840Y probably damaging Het
Arel1 A G 12: 84,981,027 (GRCm39) S327P probably damaging Het
Arhgap21 C A 2: 20,885,944 (GRCm39) R421L probably damaging Het
Ccdc85a A T 11: 28,533,400 (GRCm39) I48N probably damaging Het
Chd6 A G 2: 160,856,244 (GRCm39) S672P probably damaging Het
Ciz1 G C 2: 32,267,375 (GRCm39) probably null Het
Cmbl G A 15: 31,585,588 (GRCm39) probably null Het
Cmya5 A G 13: 93,231,377 (GRCm39) V1237A possibly damaging Het
Cntnap4 A T 8: 113,583,143 (GRCm39) K1074* probably null Het
Cntnap5b A G 1: 100,202,193 (GRCm39) M347V probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cuzd1 A T 7: 130,917,991 (GRCm39) M203K probably benign Het
Cyp3a16 T C 5: 145,392,689 (GRCm39) probably benign Het
Dlgap3 A G 4: 127,129,314 (GRCm39) E892G probably damaging Het
Dnah7b T C 1: 46,275,948 (GRCm39) S2612P probably damaging Het
Epas1 T G 17: 87,113,276 (GRCm39) probably benign Het
Etv5 G A 16: 22,230,458 (GRCm39) A192V probably benign Het
Fa2h T A 8: 112,075,921 (GRCm39) H234L probably damaging Het
Fcho1 T C 8: 72,170,134 (GRCm39) Y47C probably damaging Het
Flvcr1 T A 1: 190,744,451 (GRCm39) probably benign Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b T C 8: 82,610,886 (GRCm39) probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kmt2a A G 9: 44,721,010 (GRCm39) probably null Het
Krt4 G A 15: 101,833,081 (GRCm39) R9C possibly damaging Het
Map1a T C 2: 121,132,525 (GRCm39) S876P probably damaging Het
Mettl21e A G 1: 44,250,190 (GRCm39) probably null Het
Msh2 C T 17: 88,024,904 (GRCm39) T594M probably benign Het
Mtmr3 A G 11: 4,437,536 (GRCm39) S973P probably damaging Het
Muc5ac A T 7: 141,354,697 (GRCm39) M889L probably benign Het
Ntn1 A G 11: 68,276,369 (GRCm39) I193T probably benign Het
Nudt13 A T 14: 20,359,851 (GRCm39) I193F probably damaging Het
Or2n1 A G 17: 38,486,338 (GRCm39) D121G probably damaging Het
Or3a1 C T 11: 74,225,925 (GRCm39) G44D probably damaging Het
Or4b1b A T 2: 90,112,200 (GRCm39) S240T probably damaging Het
Or5p73 A T 7: 108,064,941 (GRCm39) T137S possibly damaging Het
Otulin A G 15: 27,606,381 (GRCm39) V344A probably damaging Het
P2rx7 C T 5: 122,795,093 (GRCm39) Q128* probably null Het
Pcdhb22 G A 18: 37,652,213 (GRCm39) R227H probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pltp C T 2: 164,682,056 (GRCm39) R394H probably benign Het
Pramel14 C T 4: 143,718,221 (GRCm39) M407I probably benign Het
Prdm13 A C 4: 21,679,737 (GRCm39) V251G unknown Het
Prkg1 T C 19: 31,641,596 (GRCm39) E29G probably damaging Het
Prrc2c A G 1: 162,525,380 (GRCm39) S409P unknown Het
Rp1 T A 1: 4,417,941 (GRCm39) D1057V probably damaging Het
Rttn G A 18: 89,029,079 (GRCm39) C599Y probably damaging Het
Shisa6 C T 11: 66,416,153 (GRCm39) R213Q probably benign Het
Slc3a1 T C 17: 85,340,273 (GRCm39) Y232H probably damaging Het
Slx4 G A 16: 3,797,953 (GRCm39) A1477V probably damaging Het
Ssrp1 T G 2: 84,871,018 (GRCm39) I218S probably damaging Het
St6galnac1 A C 11: 116,659,756 (GRCm39) S186A probably benign Het
Stab1 A G 14: 30,880,965 (GRCm39) probably benign Het
Sycp2 T C 2: 177,988,204 (GRCm39) probably benign Het
Syne2 T A 12: 76,118,981 (GRCm39) I5867N probably damaging Het
Taar7f T A 10: 23,925,839 (GRCm39) D144E probably damaging Het
Tlcd5 A T 9: 43,023,048 (GRCm39) M84K probably damaging Het
Tmem87b T A 2: 128,673,153 (GRCm39) S196T probably damaging Het
Tnfrsf21 A G 17: 43,348,768 (GRCm39) T127A probably benign Het
Trp73 A G 4: 154,148,406 (GRCm39) I336T probably benign Het
Ttl A G 2: 128,917,981 (GRCm39) I148V probably damaging Het
Ttll7 T C 3: 146,649,970 (GRCm39) Y667H probably benign Het
Ubr4 A G 4: 139,119,171 (GRCm39) T152A probably damaging Het
Vmn1r58 A T 7: 5,413,636 (GRCm39) V198E probably damaging Het
Vps52 T A 17: 34,181,091 (GRCm39) F376L probably benign Het
Zfp1007 T C 5: 109,824,754 (GRCm39) E232G probably benign Het
Other mutations in Ppip5k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Ppip5k1 APN 2 121,177,839 (GRCm39) missense probably damaging 1.00
IGL01154:Ppip5k1 APN 2 121,173,660 (GRCm39) missense probably damaging 1.00
IGL01341:Ppip5k1 APN 2 121,173,691 (GRCm39) nonsense probably null
IGL01704:Ppip5k1 APN 2 121,142,555 (GRCm39) missense possibly damaging 0.74
IGL01949:Ppip5k1 APN 2 121,168,341 (GRCm39) missense probably benign
IGL02101:Ppip5k1 APN 2 121,162,089 (GRCm39) missense possibly damaging 0.84
IGL02499:Ppip5k1 APN 2 121,162,034 (GRCm39) splice site probably null
IGL02701:Ppip5k1 APN 2 121,147,130 (GRCm39) splice site probably null
IGL03188:Ppip5k1 APN 2 121,157,327 (GRCm39) unclassified probably benign
boca UTSW 2 121,142,450 (GRCm39) missense probably damaging 0.96
lapidus UTSW 2 121,167,944 (GRCm39) missense probably benign 0.29
Roca UTSW 2 121,167,232 (GRCm39) missense probably damaging 0.98
R1315:Ppip5k1 UTSW 2 121,142,486 (GRCm39) missense probably benign 0.13
R1664:Ppip5k1 UTSW 2 121,167,663 (GRCm39) missense probably benign 0.02
R1753:Ppip5k1 UTSW 2 121,173,112 (GRCm39) missense probably damaging 1.00
R1759:Ppip5k1 UTSW 2 121,181,067 (GRCm39) missense probably benign 0.32
R1763:Ppip5k1 UTSW 2 121,179,028 (GRCm39) missense probably damaging 1.00
R2033:Ppip5k1 UTSW 2 121,168,108 (GRCm39) missense probably damaging 1.00
R2037:Ppip5k1 UTSW 2 121,173,674 (GRCm39) missense probably damaging 1.00
R2066:Ppip5k1 UTSW 2 121,173,352 (GRCm39) unclassified probably benign
R2103:Ppip5k1 UTSW 2 121,152,134 (GRCm39) splice site probably null
R3414:Ppip5k1 UTSW 2 121,158,142 (GRCm39) missense probably damaging 0.97
R4022:Ppip5k1 UTSW 2 121,168,108 (GRCm39) missense probably damaging 1.00
R4569:Ppip5k1 UTSW 2 121,174,044 (GRCm39) missense possibly damaging 0.69
R4783:Ppip5k1 UTSW 2 121,171,329 (GRCm39) missense possibly damaging 0.95
R4843:Ppip5k1 UTSW 2 121,157,368 (GRCm39) missense probably damaging 1.00
R4981:Ppip5k1 UTSW 2 121,142,871 (GRCm39) missense probably damaging 1.00
R5353:Ppip5k1 UTSW 2 121,142,201 (GRCm39) missense probably benign 0.00
R5493:Ppip5k1 UTSW 2 121,167,253 (GRCm39) missense probably damaging 1.00
R5654:Ppip5k1 UTSW 2 121,147,157 (GRCm39) missense probably benign 0.00
R5835:Ppip5k1 UTSW 2 121,168,380 (GRCm39) missense probably benign 0.01
R5987:Ppip5k1 UTSW 2 121,180,972 (GRCm39) nonsense probably null
R6076:Ppip5k1 UTSW 2 121,167,591 (GRCm39) missense probably null 1.00
R6088:Ppip5k1 UTSW 2 121,167,944 (GRCm39) missense probably benign 0.29
R6276:Ppip5k1 UTSW 2 121,153,684 (GRCm39) unclassified probably benign
R6555:Ppip5k1 UTSW 2 121,168,093 (GRCm39) missense probably damaging 0.99
R6878:Ppip5k1 UTSW 2 121,142,417 (GRCm39) missense probably benign 0.00
R7075:Ppip5k1 UTSW 2 121,152,231 (GRCm39) missense probably damaging 1.00
R7251:Ppip5k1 UTSW 2 121,178,052 (GRCm39) missense probably benign 0.05
R7332:Ppip5k1 UTSW 2 121,142,450 (GRCm39) missense probably damaging 0.96
R7359:Ppip5k1 UTSW 2 121,171,329 (GRCm39) missense possibly damaging 0.95
R7462:Ppip5k1 UTSW 2 121,167,232 (GRCm39) missense probably damaging 0.98
R7568:Ppip5k1 UTSW 2 121,168,096 (GRCm39) missense probably damaging 1.00
R7654:Ppip5k1 UTSW 2 121,179,040 (GRCm39) missense probably damaging 1.00
R7678:Ppip5k1 UTSW 2 121,168,142 (GRCm39) missense probably damaging 1.00
R7841:Ppip5k1 UTSW 2 121,173,276 (GRCm39) missense probably benign 0.13
R7877:Ppip5k1 UTSW 2 121,147,235 (GRCm39) missense probably benign 0.01
R7896:Ppip5k1 UTSW 2 121,177,811 (GRCm39) missense probably damaging 1.00
R7901:Ppip5k1 UTSW 2 121,142,390 (GRCm39) missense probably damaging 0.99
R7911:Ppip5k1 UTSW 2 121,173,139 (GRCm39) missense possibly damaging 0.89
R8167:Ppip5k1 UTSW 2 121,173,282 (GRCm39) nonsense probably null
R8179:Ppip5k1 UTSW 2 121,172,095 (GRCm39) critical splice donor site probably null
R8766:Ppip5k1 UTSW 2 121,166,919 (GRCm39) nonsense probably null
R8954:Ppip5k1 UTSW 2 121,153,701 (GRCm39) unclassified probably benign
R8981:Ppip5k1 UTSW 2 121,158,121 (GRCm39) unclassified probably benign
R9127:Ppip5k1 UTSW 2 121,158,125 (GRCm39) critical splice donor site probably null
R9165:Ppip5k1 UTSW 2 121,162,045 (GRCm39) missense probably damaging 1.00
R9244:Ppip5k1 UTSW 2 121,164,932 (GRCm39) missense probably benign 0.30
R9338:Ppip5k1 UTSW 2 121,153,827 (GRCm39) missense
R9662:Ppip5k1 UTSW 2 121,174,054 (GRCm39) missense probably benign 0.15
X0020:Ppip5k1 UTSW 2 121,172,136 (GRCm39) missense probably damaging 0.99
Z1176:Ppip5k1 UTSW 2 121,168,347 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGAGGCGATCTGTGATAGCCAC -3'
(R):5'- CCCATGCTGAAGCTAGAAAGTCTCC -3'

Sequencing Primer
(F):5'- gctgattctcctgcttccac -3'
(R):5'- CTAGAAAGTCTCCAGCTTTGGATG -3'
Posted On 2013-04-24