Incidental Mutation 'R6878:Ppip5k1'
ID 536498
Institutional Source Beutler Lab
Gene Symbol Ppip5k1
Ensembl Gene ENSMUSG00000033526
Gene Name diphosphoinositol pentakisphosphate kinase 1
Synonyms B430315C20Rik, Hisppd2a
MMRRC Submission 044974-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R6878 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 121141042-121185877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121142417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1323 (F1323S)
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: F1344S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: F1344S

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 benign
Transcript: ENSMUST00000110625
AA Change: F1323S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: F1323S

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: F1344S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: F1344S

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 benign
Transcript: ENSMUST00000110627
AA Change: F1323S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: F1323S

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: F1324S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: F1324S

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (44/45)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,581,613 (GRCm39) N4810K probably benign Het
Arhgap26 A T 18: 39,360,465 (GRCm39) I397F probably damaging Het
Arhgap35 A G 7: 16,299,038 (GRCm39) V9A probably benign Het
Asl A G 5: 130,053,133 (GRCm39) probably null Het
Atg2a T A 19: 6,300,208 (GRCm39) L672Q probably damaging Het
B4galt1 T C 4: 40,809,694 (GRCm39) D316G probably damaging Het
Bpifb2 A G 2: 153,717,832 (GRCm39) probably benign Het
Ccl1 T C 11: 82,070,519 (GRCm39) I18V probably benign Het
Cd47 A G 16: 49,731,232 (GRCm39) E278G possibly damaging Het
Cilp G A 9: 65,187,129 (GRCm39) G1075S probably damaging Het
Eml2 T C 7: 18,934,537 (GRCm39) V604A probably benign Het
Fancm A T 12: 65,163,197 (GRCm39) R1454* probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm4302 GCA GCACCA 10: 100,177,377 (GRCm39) probably benign Het
Gm4302 CAG CAGAAG 10: 100,177,369 (GRCm39) probably benign Het
Hif1a T C 12: 73,975,055 (GRCm39) M147T possibly damaging Het
Hps5 C G 7: 46,433,058 (GRCm39) A221P probably damaging Het
Lrrc49 A G 9: 60,587,431 (GRCm39) S67P probably damaging Het
Madd T A 2: 91,000,202 (GRCm39) N568I probably damaging Het
Meikin T C 11: 54,302,712 (GRCm39) S375P possibly damaging Het
Mfsd6 G T 1: 52,747,912 (GRCm39) Q318K probably damaging Het
Mis18a A T 16: 90,518,644 (GRCm39) I106N probably damaging Het
Myl2 T C 5: 122,243,140 (GRCm39) I148T probably benign Het
Myrf T C 19: 10,193,842 (GRCm39) Q730R possibly damaging Het
Nf1 T C 11: 79,325,708 (GRCm39) L560P probably damaging Het
Npat A G 9: 53,467,899 (GRCm39) T285A probably benign Het
Ntrk3 T A 7: 77,954,120 (GRCm39) D547V probably benign Het
Obox2 G T 7: 15,131,245 (GRCm39) S117I probably benign Het
Or8k32 A G 2: 86,369,109 (GRCm39) L48P probably damaging Het
Parva T A 7: 112,175,656 (GRCm39) N226K possibly damaging Het
Pcdha3 T A 18: 37,080,416 (GRCm39) L386* probably null Het
Prkdc T C 16: 15,594,936 (GRCm39) V2771A probably benign Het
Prl7c1 T C 13: 27,962,827 (GRCm39) T59A possibly damaging Het
Rab15 T C 12: 76,851,257 (GRCm39) T20A probably benign Het
Rp1l1 A G 14: 64,269,301 (GRCm39) E1629G probably benign Het
Rpap1 A T 2: 119,608,657 (GRCm39) L235Q probably damaging Het
Sema3a A T 5: 13,505,511 (GRCm39) I91F possibly damaging Het
Snx6 T C 12: 54,810,386 (GRCm39) probably null Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Speer4f2 T G 5: 17,580,765 (GRCm39) M114R probably damaging Het
Syne1 T C 10: 5,370,388 (GRCm39) D264G possibly damaging Het
Tbl1xr1 T G 3: 22,257,368 (GRCm39) N410K possibly damaging Het
Tmed7 A T 18: 46,726,532 (GRCm39) D74E probably damaging Het
Upk3b T C 5: 136,068,001 (GRCm39) V64A probably benign Het
Vmn2r29 A G 7: 7,244,863 (GRCm39) V337A probably benign Het
Yy1 C G 12: 108,780,682 (GRCm39) P352A probably damaging Het
Zfp1005 C T 2: 150,108,406 (GRCm39) L56F possibly damaging Het
Zfp873 T C 10: 81,896,529 (GRCm39) I457T 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
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
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
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'- ATGGTTTGTCAGCCTCAGG -3'
(R):5'- CGTGTCACAACATCCATGAGG -3'

Sequencing Primer
(F):5'- CCTCAGGGATGTCTTGAGATAGCTC -3'
(R):5'- TGACATCAGCCAGCTGTTG -3'
Posted On 2018-10-18