Incidental Mutation 'R4981:Ppip5k1'
ID 384802
Institutional Source Beutler Lab
Gene Symbol Ppip5k1
Ensembl Gene ENSMUSG00000033526
Gene Name diphosphoinositol pentakisphosphate kinase 1
Synonyms B430315C20Rik, Hisppd2a
MMRRC Submission 042576-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R4981 (G1)
Quality Score 145
Status Validated
Chromosome 2
Chromosomal Location 121141042-121185877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121142871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1172 (S1172T)
Ref Sequence ENSEMBL: ENSMUSP00000106257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000094639] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000110639]
AlphaFold A2ARP1
Predicted Effect probably benign
Transcript: ENSMUST00000052029
AA Change: S1193T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: S1193T

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 benign
Transcript: ENSMUST00000094639
SMART Domains Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254

DomainStartEndE-ValueType
Blast:Lactamase_B 286 538 2e-54 BLAST
SCOP:d1eq1a_ 584 699 8e-5 SMART
low complexity region 743 755 N/A INTRINSIC
low complexity region 820 833 N/A INTRINSIC
low complexity region 852 867 N/A INTRINSIC
low complexity region 897 911 N/A INTRINSIC
low complexity region 1228 1239 N/A INTRINSIC
low complexity region 1334 1344 N/A INTRINSIC
low complexity region 1540 1555 N/A INTRINSIC
coiled coil region 1573 1602 N/A INTRINSIC
internal_repeat_1 1616 1726 7.66e-6 PROSPERO
coiled coil region 1747 1771 N/A INTRINSIC
internal_repeat_1 1774 1888 7.66e-6 PROSPERO
low complexity region 2060 2084 N/A INTRINSIC
low complexity region 2121 2133 N/A INTRINSIC
low complexity region 2156 2169 N/A INTRINSIC
low complexity region 2383 2396 N/A INTRINSIC
low complexity region 2436 2460 N/A INTRINSIC
low complexity region 2517 2541 N/A INTRINSIC
low complexity region 2589 2600 N/A INTRINSIC
low complexity region 2662 2682 N/A INTRINSIC
low complexity region 2685 2704 N/A INTRINSIC
low complexity region 2716 2728 N/A INTRINSIC
low complexity region 2766 2790 N/A INTRINSIC
low complexity region 2980 2988 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110625
AA Change: S1172T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: S1172T

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 benign
Transcript: ENSMUST00000110626
AA Change: S1193T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: S1193T

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: S1172T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: S1172T

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 benign
Transcript: ENSMUST00000110628
AA Change: S1173T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: S1173T

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: ENSMUST00000133283
Predicted Effect probably benign
Transcript: ENSMUST00000110639
SMART Domains Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254

DomainStartEndE-ValueType
Blast:Lactamase_B 48 300 3e-54 BLAST
SCOP:d1eq1a_ 346 461 1e-4 SMART
low complexity region 505 517 N/A INTRINSIC
low complexity region 582 595 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
low complexity region 659 673 N/A INTRINSIC
low complexity region 990 1001 N/A INTRINSIC
low complexity region 1096 1106 N/A INTRINSIC
low complexity region 1302 1317 N/A INTRINSIC
coiled coil region 1335 1364 N/A INTRINSIC
internal_repeat_1 1378 1488 5.43e-6 PROSPERO
coiled coil region 1509 1533 N/A INTRINSIC
internal_repeat_1 1536 1650 5.43e-6 PROSPERO
low complexity region 1822 1846 N/A INTRINSIC
low complexity region 1883 1895 N/A INTRINSIC
low complexity region 1918 1931 N/A INTRINSIC
low complexity region 2145 2158 N/A INTRINSIC
low complexity region 2198 2222 N/A INTRINSIC
low complexity region 2279 2303 N/A INTRINSIC
low complexity region 2351 2362 N/A INTRINSIC
low complexity region 2424 2444 N/A INTRINSIC
low complexity region 2447 2466 N/A INTRINSIC
low complexity region 2478 2490 N/A INTRINSIC
low complexity region 2528 2552 N/A INTRINSIC
low complexity region 2742 2750 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (105/105)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,095,772 (GRCm39) probably null Het
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Amer2 T A 14: 60,617,176 (GRCm39) L331H probably damaging Het
Ang4 T G 14: 52,001,829 (GRCm39) K40Q probably benign Het
Aspm A C 1: 139,398,498 (GRCm39) probably null Het
Cacna1c A T 6: 118,728,432 (GRCm39) D337E probably benign Het
Ccdc124 T C 8: 71,321,429 (GRCm39) E134G probably benign Het
Ccdc7a G T 8: 129,711,464 (GRCm39) A312E probably benign Het
Cd209g A G 8: 4,186,845 (GRCm39) D130G probably damaging Het
Cd320 T C 17: 34,066,549 (GRCm39) S96P probably benign Het
Cenatac A T 9: 44,329,245 (GRCm39) F14Y probably damaging Het
Clu C G 14: 66,210,815 (GRCm39) Q134E probably damaging Het
Cnksr3 T A 10: 7,110,777 (GRCm39) H28L probably benign Het
Cntnap1 T C 11: 101,067,159 (GRCm39) probably null Het
Col22a1 C T 15: 71,732,915 (GRCm39) C546Y unknown Het
Col6a3 C T 1: 90,706,565 (GRCm39) V2183I unknown Het
Cop1 A G 1: 159,152,638 (GRCm39) probably benign Het
Cpne8 T C 15: 90,563,438 (GRCm39) I24V probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Dennd5b G A 6: 148,911,270 (GRCm39) L978F possibly damaging Het
Depdc1a G T 3: 159,229,550 (GRCm39) M627I probably benign Het
Dnah3 A T 7: 119,555,424 (GRCm39) N2721K probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A G 18: 20,541,925 (GRCm39) T811A possibly damaging Het
Emilin1 C G 5: 31,076,695 (GRCm39) Q847E probably benign Het
Epha3 A T 16: 63,472,775 (GRCm39) V370D probably benign Het
Epha5 T A 5: 84,298,342 (GRCm39) T406S probably damaging Het
Ephb1 A T 9: 101,918,159 (GRCm39) I450N probably benign Het
Ephb2 A G 4: 136,423,321 (GRCm39) M319T probably benign Het
Eps15l1 A G 8: 73,132,833 (GRCm39) probably null Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fgd5 T C 6: 91,966,281 (GRCm39) I838T probably damaging Het
Fnbp4 T C 2: 90,596,174 (GRCm39) F582L probably damaging Het
Frs3 T C 17: 48,000,187 (GRCm39) probably null Het
Fscb C T 12: 64,520,393 (GRCm39) V358I possibly damaging Het
Fus G T 7: 127,566,727 (GRCm39) probably benign Het
Fyb1 CCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT 15: 6,676,092 (GRCm39) probably benign Het
Glra3 A T 8: 56,444,270 (GRCm39) I77F possibly damaging Het
Gm4454 C T 7: 38,269,860 (GRCm39) noncoding transcript Het
Gng3 G A 19: 8,815,625 (GRCm39) A37V possibly damaging Het
Grin3b T A 10: 79,812,191 (GRCm39) probably benign Het
Herpud1 A G 8: 95,118,422 (GRCm39) Y41C probably damaging Het
Igkv4-92 G C 6: 68,732,028 (GRCm39) S115R possibly damaging Het
Ikbip T A 10: 90,931,848 (GRCm39) I164N probably benign Het
Kank1 A G 19: 25,388,759 (GRCm39) T783A probably benign Het
Kcnq3 A T 15: 65,903,254 (GRCm39) V152E possibly damaging Het
Kif23 C T 9: 61,839,153 (GRCm39) R314H probably damaging Het
Klc4 T C 17: 46,955,287 (GRCm39) H49R probably benign Het
Klhl20 A T 1: 160,930,575 (GRCm39) I309N possibly damaging Het
Lgals4 A G 7: 28,540,701 (GRCm39) Y268C probably damaging Het
Lingo4 A G 3: 94,306,761 (GRCm39) Q13R probably benign Het
Lmtk2 C A 5: 144,113,265 (GRCm39) F1328L probably damaging Het
Mapk14 A G 17: 28,960,765 (GRCm39) R179G probably damaging Het
Mbd3l1 A T 9: 18,396,201 (GRCm39) T109S probably benign Het
Megf6 T C 4: 154,351,907 (GRCm39) F1169L possibly damaging Het
Mrgpra1 A T 7: 46,984,959 (GRCm39) V240D probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myh1 T C 11: 67,115,300 (GRCm39) probably benign Het
Nav3 T C 10: 109,716,553 (GRCm39) I172V probably benign Het
Nemp1 T A 10: 127,529,399 (GRCm39) L178Q probably damaging Het
Numa1 T C 7: 101,641,881 (GRCm39) S110P probably damaging Het
Or4a75 A G 2: 89,447,769 (GRCm39) Y256H probably damaging Het
Or4c117 T C 2: 88,955,845 (GRCm39) T77A probably benign Het
Or51k1 A G 7: 103,661,312 (GRCm39) I199T probably damaging Het
Or5ak25 A G 2: 85,268,813 (GRCm39) S230P probably damaging Het
Or8k30 T C 2: 86,339,171 (GRCm39) Y123H probably damaging Het
Or9q1 A T 19: 13,805,458 (GRCm39) F101I probably damaging Het
Pard3b T G 1: 62,383,219 (GRCm39) M771R probably damaging Het
Phkg2 A G 7: 127,181,551 (GRCm39) I245V probably damaging Het
Pik3cg A T 12: 32,254,103 (GRCm39) M628K possibly damaging Het
Poln A G 5: 34,264,429 (GRCm39) probably null Het
Prdm5 A T 6: 65,847,446 (GRCm39) H363L probably damaging Het
Prkdc A G 16: 15,496,173 (GRCm39) Y788C probably damaging Het
Prrc2c T A 1: 162,520,116 (GRCm39) R2076S probably damaging Het
Sh2d2a A G 3: 87,756,728 (GRCm39) Y191C probably damaging Het
Slc20a1 T C 2: 129,041,919 (GRCm39) I94T probably damaging Het
Sptbn2 T C 19: 4,801,686 (GRCm39) V2366A probably benign Het
Stab2 T A 10: 86,796,087 (GRCm39) M387L probably benign Het
Syne2 T G 12: 75,987,993 (GRCm39) M1718R probably damaging Het
Synm G T 7: 67,384,235 (GRCm39) F700L probably benign Het
Tmco4 T C 4: 138,718,012 (GRCm39) F51L possibly damaging Het
Tmem104 C A 11: 115,095,962 (GRCm39) P168T probably damaging Het
Tril G T 6: 53,795,905 (GRCm39) T439K probably benign Het
Trim2 A G 3: 84,085,042 (GRCm39) L559P probably damaging Het
Trim3 A G 7: 105,268,335 (GRCm39) V149A probably damaging Het
Triml2 A G 8: 43,640,717 (GRCm39) N191S probably benign Het
Usp4 A G 9: 108,258,617 (GRCm39) D16G probably benign Het
Vmn2r58 G A 7: 41,486,885 (GRCm39) T670I probably damaging Het
Vmn2r97 G T 17: 19,160,436 (GRCm39) G524* probably null Het
Xpo5 C A 17: 46,531,743 (GRCm39) F426L probably damaging Het
Zfp800 A G 6: 28,247,190 (GRCm39) L84S probably damaging Het
Zranb2 T G 3: 157,252,378 (GRCm39) probably benign Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
R0363:Ppip5k1 UTSW 2 121,177,836 (GRCm39) missense probably damaging 1.00
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
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'- CATGGATGTTGTGACACGGC -3'
(R):5'- CTAGGGTTTAATGTCCATGCATG -3'

Sequencing Primer
(F):5'- ATGTCTGGCTGACCTTGGTAACAC -3'
(R):5'- ATGGATAGAGCCTCCTCTTGCAG -3'
Posted On 2016-05-10