Incidental Mutation 'IGL01147:Itpka'
ID 50637
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 # IGL01147
Quality Score
Status
Chromosome 2
Chromosomal Location 119572818-119581734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119573254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 132 (L132P)
Ref Sequence ENSEMBL: ENSMUSP00000028758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028758]
AlphaFold Q8R071
Predicted Effect probably benign
Transcript: ENSMUST00000028758
AA Change: L132P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028758
Gene: ENSMUSG00000027296
AA Change: L132P

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 noncoding transcript
Transcript: ENSMUST00000082788
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,234,611 (GRCm39) probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cdh1 C A 8: 107,387,516 (GRCm39) T472K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap57 A T 4: 118,446,198 (GRCm39) V688E probably damaging Het
Cfp G A X: 20,794,981 (GRCm39) R155C probably damaging Het
Chst7 T C X: 19,926,991 (GRCm39) I346T probably damaging Het
Crybg2 G A 4: 133,816,575 (GRCm39) probably null Het
Ctsc T A 7: 87,951,479 (GRCm39) V242D possibly damaging Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
D6Wsu163e A G 6: 126,921,815 (GRCm39) D80G possibly damaging Het
Enpp3 G T 10: 24,650,805 (GRCm39) T777K probably damaging Het
H2-M1 T A 17: 36,982,199 (GRCm39) H134L possibly damaging Het
Heatr1 T C 13: 12,452,793 (GRCm39) S2105P probably damaging Het
Herc2 T C 7: 55,806,697 (GRCm39) S2388P probably benign Het
Igkv6-23 A G 6: 70,237,922 (GRCm39) probably benign Het
Il1rapl2 C T X: 137,121,325 (GRCm39) probably benign Het
Jak3 T C 8: 72,136,047 (GRCm39) S616P probably benign Het
Kcnj11 T C 7: 45,748,193 (GRCm39) K377E probably benign Het
Map4k3 A T 17: 80,944,147 (GRCm39) probably null Het
Parp1 T C 1: 180,417,145 (GRCm39) I643T probably damaging Het
Phf3 T C 1: 30,843,250 (GRCm39) D1903G probably damaging Het
Picalm G T 7: 89,826,800 (GRCm39) S416I probably benign Het
Pkn2 T C 3: 142,534,770 (GRCm39) N285S probably benign Het
Sh3gl2 A C 4: 85,265,433 (GRCm39) probably benign Het
Smpd1 C A 7: 105,204,943 (GRCm39) T274K probably damaging Het
Snap91 G A 9: 86,680,611 (GRCm39) T424M probably benign Het
Sox13 T A 1: 133,320,873 (GRCm39) T46S probably benign Het
Syne1 G A 10: 5,002,691 (GRCm39) Q8075* probably null Het
Trio T C 15: 27,881,406 (GRCm39) E555G probably damaging Het
Upf3b T C X: 36,360,586 (GRCm39) E298G probably damaging Het
Vmn1r158 A G 7: 22,490,204 (GRCm39) S2P probably benign Het
Vmn1r6 T A 6: 56,979,626 (GRCm39) L74H probably damaging Het
Vwa2 T C 19: 56,890,066 (GRCm39) S224P probably damaging Het
Wbp1l T A 19: 46,632,808 (GRCm39) V36E probably damaging Het
Zfp367 A G 13: 64,283,253 (GRCm39) S300P probably damaging Het
Other mutations in Itpka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02998:Itpka APN 2 119,581,242 (GRCm39) missense possibly damaging 0.91
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 2013-06-21