Incidental Mutation 'IGL02998:Itpka'
ID 407206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpka
Ensembl Gene ENSMUSG00000027296
Gene Name inositol 1,4,5-trisphosphate 3-kinase A
Synonyms IP3-kinase A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02998
Quality Score
Status
Chromosome 2
Chromosomal Location 119572818-119581734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119581242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 425 (Q425R)
Ref Sequence ENSEMBL: ENSMUSP00000028758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028758] [ENSMUST00000028759] [ENSMUST00000082130] [ENSMUST00000140224] [ENSMUST00000182203]
AlphaFold Q8R071
Predicted Effect possibly damaging
Transcript: ENSMUST00000028758
AA Change: Q425R

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028758
Gene: ENSMUSG00000027296
AA Change: Q425R

DomainStartEndE-ValueType
low complexity region 40 64 N/A INTRINSIC
low complexity region 116 149 N/A INTRINSIC
Pfam:IPK 243 454 1.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028759
SMART Domains Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Gly_rich 111 381 2.4e-21 PFAM
transmembrane domain 423 445 N/A INTRINSIC
TyrKc 506 773 2.61e-127 SMART
low complexity region 824 841 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082130
SMART Domains Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Gly_rich 109 294 6.1e-16 PFAM
transmembrane domain 362 384 N/A INTRINSIC
TyrKc 445 712 2.61e-127 SMART
low complexity region 763 780 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134295
Predicted Effect probably benign
Transcript: ENSMUST00000140224
SMART Domains Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
transmembrane domain 111 133 N/A INTRINSIC
TyrKc 194 461 1.2e-129 SMART
low complexity region 512 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182203
SMART Domains Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
transmembrane domain 111 133 N/A INTRINSIC
TyrKc 194 461 2.61e-127 SMART
low complexity region 512 529 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display enhanced long term potentiation in the hippocampal CA1 region. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,912,862 (GRCm39) A1329V probably benign Het
Bhlha9 G A 11: 76,563,570 (GRCm39) A66T probably damaging Het
Dock10 G A 1: 80,551,259 (GRCm39) R681W probably damaging Het
Dst T C 1: 34,307,356 (GRCm39) L1433P probably damaging Het
Ercc6 A G 14: 32,279,814 (GRCm39) I610V probably benign Het
Fras1 T C 5: 96,850,040 (GRCm39) F1859S possibly damaging Het
Gad1 A G 2: 70,420,163 (GRCm39) Y349C probably damaging Het
Galnt1 T A 18: 24,397,469 (GRCm39) I190N probably damaging Het
Gm28042 G A 2: 119,870,635 (GRCm39) V768I possibly damaging Het
Gm8220 T C 14: 44,525,765 (GRCm39) probably null Het
Higd1a A G 9: 121,678,690 (GRCm39) probably benign Het
Itga4 T A 2: 79,108,165 (GRCm39) Y206N possibly damaging Het
Itpk1 A G 12: 102,545,398 (GRCm39) V235A probably damaging Het
Kpna6 T A 4: 129,549,297 (GRCm39) I162F probably benign Het
Msantd1 A G 5: 35,078,768 (GRCm39) D101G probably damaging Het
Ntrk3 T C 7: 78,227,405 (GRCm39) I43V probably damaging Het
Pias3 G A 3: 96,609,495 (GRCm39) E271K probably damaging Het
Pparg A G 6: 115,440,049 (GRCm39) I178V probably benign Het
Rxfp3 A T 15: 11,037,054 (GRCm39) M106K probably damaging Het
Scn3b G A 9: 40,199,713 (GRCm39) V210M possibly damaging Het
Shisa3 A G 5: 67,765,848 (GRCm39) D33G possibly damaging Het
Suz12 T A 11: 79,920,149 (GRCm39) W570R probably damaging Het
Vmn2r107 A T 17: 20,578,017 (GRCm39) K442M probably damaging Het
Other mutations in Itpka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Itpka APN 2 119,573,254 (GRCm39) missense probably benign
R0833:Itpka UTSW 2 119,581,312 (GRCm39) missense probably damaging 1.00
R0836:Itpka UTSW 2 119,581,312 (GRCm39) missense probably damaging 1.00
R4032:Itpka UTSW 2 119,573,082 (GRCm39) missense probably benign 0.20
R5207:Itpka UTSW 2 119,580,974 (GRCm39) missense probably damaging 1.00
R6520:Itpka UTSW 2 119,581,259 (GRCm39) missense probably benign 0.15
R7900:Itpka UTSW 2 119,580,994 (GRCm39) missense probably benign 0.14
R8409:Itpka UTSW 2 119,580,341 (GRCm39) missense probably damaging 1.00
R8430:Itpka UTSW 2 119,580,035 (GRCm39) missense probably damaging 1.00
R9008:Itpka UTSW 2 119,579,894 (GRCm39) missense probably damaging 0.99
R9239:Itpka UTSW 2 119,580,023 (GRCm39) missense probably damaging 1.00
Z1176:Itpka UTSW 2 119,573,281 (GRCm39) missense probably damaging 0.97
Z1177:Itpka UTSW 2 119,581,256 (GRCm39) missense probably damaging 1.00
Z1177:Itpka UTSW 2 119,579,902 (GRCm39) missense probably benign
Posted On 2016-08-02