Incidental Mutation 'IGL00909:Ppip5k1'
ID 26849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppip5k1
Ensembl Gene ENSMUSG00000033526
Gene Name diphosphoinositol pentakisphosphate kinase 1
Synonyms B430315C20Rik, Hisppd2a
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # IGL00909
Quality Score
Status
Chromosome 2
Chromosomal Location 121141042-121185877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121177839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 323 (R323W)
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: R323W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: R323W

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: R323W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: R323W

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: R323W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: R323W

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: R323W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: R323W

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: R323W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: R323W

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: ENSMUST00000150081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131661
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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,250 (GRCm39) D94V possibly damaging Het
Adamts20 T C 15: 94,277,694 (GRCm39) Y256C probably damaging Het
Ajm1 A G 2: 25,469,419 (GRCm39) L164P probably damaging Het
Ampd1 A C 3: 102,995,744 (GRCm39) D218A probably benign Het
Arcn1 T C 9: 44,662,651 (GRCm39) N332D probably damaging Het
Arpp21 T A 9: 112,005,191 (GRCm39) I219F probably damaging Het
Bicra A T 7: 15,730,502 (GRCm39) D5E possibly damaging Het
Birc2 A C 9: 7,833,666 (GRCm39) W272G probably damaging Het
Cd2ap A T 17: 43,141,005 (GRCm39) probably benign Het
Celsr1 G A 15: 85,806,436 (GRCm39) R974W probably damaging Het
Col4a2 A C 8: 11,498,167 (GRCm39) T1659P possibly damaging Het
Coq9 C T 8: 95,578,530 (GRCm39) L215F possibly damaging Het
Cped1 A G 6: 22,122,426 (GRCm39) probably benign Het
Elapor2 A T 5: 9,430,282 (GRCm39) D64V probably damaging Het
Gga3 T A 11: 115,482,567 (GRCm39) R105W probably damaging Het
Hmcn1 C T 1: 150,514,620 (GRCm39) R3584Q probably benign Het
Hs6st3 T A 14: 119,376,446 (GRCm39) L207Q probably damaging Het
Ift43 A G 12: 86,208,807 (GRCm39) E141G probably damaging Het
Mrps31 T G 8: 22,917,841 (GRCm39) F287V probably damaging Het
Naca A G 10: 127,877,551 (GRCm39) probably benign Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or5p81 A G 7: 108,266,907 (GRCm39) I95V possibly damaging Het
Pfas A T 11: 68,894,640 (GRCm39) Y8* probably null Het
Rasal1 A G 5: 120,802,872 (GRCm39) E376G probably damaging Het
Rfc1 A G 5: 65,437,042 (GRCm39) L546P probably benign Het
Rheb A T 5: 25,012,073 (GRCm39) I129N probably damaging Het
Scpep1 A T 11: 88,843,303 (GRCm39) F52I probably damaging Het
Six2 A T 17: 85,995,319 (GRCm39) L21Q probably damaging Het
Slit1 G T 19: 41,590,694 (GRCm39) T1326K possibly damaging Het
Spata2l T C 8: 123,960,716 (GRCm39) D191G possibly damaging Het
Susd4 C A 1: 182,719,552 (GRCm39) A389D probably damaging Het
Tcaf2 A T 6: 42,601,510 (GRCm39) F850I probably damaging Het
Teddm1b T C 1: 153,750,391 (GRCm39) S67P probably damaging Het
Tiparp T A 3: 65,439,530 (GRCm39) V100D probably damaging Het
Zdhhc14 A G 17: 5,803,067 (GRCm39) H390R probably benign Het
Other mutations in Ppip5k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17