Incidental Mutation 'IGL02345:Pik3r5'
ID 289242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3r5
Ensembl Gene ENSMUSG00000020901
Gene Name phosphoinositide-3-kinase regulatory subunit 5
Synonyms p101, Foap2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL02345
Quality Score
Status
Chromosome 11
Chromosomal Location 68322951-68388675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68383552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 457 (D457G)
Ref Sequence ENSEMBL: ENSMUSP00000021283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021283]
AlphaFold Q5SW28
Predicted Effect probably benign
Transcript: ENSMUST00000021283
AA Change: D457G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: D457G

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 6 871 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155887
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced neutrophil chemotaxis and chemokinesis in vitro and impaired neutrophil recruitment into the peritoneum in a model of thioglycollate-induced aseptic peritonitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,214,215 (GRCm39) D177Y possibly damaging Het
Casc3 T C 11: 98,718,390 (GRCm39) probably benign Het
Catspere2 G A 1: 177,842,754 (GRCm39) V60I possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Dcun1d4 A G 5: 73,668,495 (GRCm39) D41G probably damaging Het
Dnm1l T C 16: 16,147,758 (GRCm39) S181G possibly damaging Het
Dyrk1a T G 16: 94,472,221 (GRCm39) S242A possibly damaging Het
Fcgbp T A 7: 27,771,068 (GRCm39) probably benign Het
Fibcd1 T C 2: 31,706,604 (GRCm39) Y409C probably damaging Het
Fig4 A T 10: 41,143,770 (GRCm39) W230R probably null Het
Flt1 T C 5: 147,519,436 (GRCm39) S960G probably benign Het
Fyb1 A G 15: 6,649,143 (GRCm39) S390G possibly damaging Het
Gbx2 T C 1: 89,856,698 (GRCm39) T231A probably benign Het
Gm5852 T A 3: 93,635,055 (GRCm39) noncoding transcript Het
Lmo7 T C 14: 102,124,909 (GRCm39) V456A probably damaging Het
Mark3 A G 12: 111,593,541 (GRCm39) N191S probably damaging Het
Or7h8 C A 9: 20,124,314 (GRCm39) S223Y possibly damaging Het
Pik3c2a C T 7: 116,005,126 (GRCm39) E381K probably damaging Het
Plcg2 T C 8: 118,311,919 (GRCm39) S404P probably damaging Het
Prr16 T C 18: 51,436,301 (GRCm39) F260S probably damaging Het
Psd4 T C 2: 24,291,835 (GRCm39) probably null Het
Ptgs1 A G 2: 36,132,983 (GRCm39) D327G probably null Het
Rgsl1 C T 1: 153,679,755 (GRCm39) probably null Het
Spart T A 3: 55,025,147 (GRCm39) probably null Het
Sugp1 A G 8: 70,495,734 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Usp19 A G 9: 108,371,057 (GRCm39) T240A probably benign Het
Vash2 A G 1: 190,710,412 (GRCm39) V81A probably benign Het
Vmn2r41 T G 7: 8,141,767 (GRCm39) N566H probably damaging Het
Wdr31 A G 4: 62,377,083 (GRCm39) I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 (GRCm39) V1272I possibly damaging Het
Zfp638 C T 6: 83,961,857 (GRCm39) R1899C probably damaging Het
Other mutations in Pik3r5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Pik3r5 APN 11 68,387,020 (GRCm39) missense possibly damaging 0.68
IGL01400:Pik3r5 APN 11 68,385,373 (GRCm39) missense probably benign 0.01
IGL01597:Pik3r5 APN 11 68,386,827 (GRCm39) missense probably damaging 1.00
IGL01622:Pik3r5 APN 11 68,377,452 (GRCm39) splice site probably null
IGL01623:Pik3r5 APN 11 68,377,452 (GRCm39) splice site probably null
IGL01878:Pik3r5 APN 11 68,383,356 (GRCm39) missense probably benign 0.00
IGL01953:Pik3r5 APN 11 68,384,997 (GRCm39) missense probably benign 0.00
IGL02056:Pik3r5 APN 11 68,381,681 (GRCm39) missense possibly damaging 0.86
palmetto UTSW 11 68,385,059 (GRCm39) missense probably damaging 1.00
Palmito UTSW 11 68,382,826 (GRCm39) missense probably damaging 1.00
palms UTSW 11 68,377,448 (GRCm39) critical splice donor site probably null
piranha UTSW 11 68,377,407 (GRCm39) missense probably damaging 1.00
Serenoa_repens UTSW 11 68,366,250 (GRCm39) nonsense probably null
IGL02799:Pik3r5 UTSW 11 68,386,773 (GRCm39) missense probably damaging 0.98
R0077:Pik3r5 UTSW 11 68,377,448 (GRCm39) critical splice donor site probably null
R0092:Pik3r5 UTSW 11 68,383,629 (GRCm39) missense probably benign
R0105:Pik3r5 UTSW 11 68,381,337 (GRCm39) missense probably damaging 0.99
R0118:Pik3r5 UTSW 11 68,381,306 (GRCm39) missense probably damaging 1.00
R1204:Pik3r5 UTSW 11 68,385,050 (GRCm39) missense probably benign 0.03
R1447:Pik3r5 UTSW 11 68,385,003 (GRCm39) missense probably benign 0.18
R1865:Pik3r5 UTSW 11 68,383,318 (GRCm39) missense probably damaging 1.00
R2034:Pik3r5 UTSW 11 68,384,403 (GRCm39) missense probably damaging 0.99
R2356:Pik3r5 UTSW 11 68,383,743 (GRCm39) missense probably damaging 1.00
R4588:Pik3r5 UTSW 11 68,384,087 (GRCm39) intron probably benign
R4716:Pik3r5 UTSW 11 68,386,030 (GRCm39) missense possibly damaging 0.48
R4960:Pik3r5 UTSW 11 68,384,464 (GRCm39) missense probably benign 0.19
R5217:Pik3r5 UTSW 11 68,382,790 (GRCm39) missense possibly damaging 0.67
R5518:Pik3r5 UTSW 11 68,368,294 (GRCm39) missense possibly damaging 0.86
R5528:Pik3r5 UTSW 11 68,386,803 (GRCm39) missense probably damaging 1.00
R5554:Pik3r5 UTSW 11 68,385,059 (GRCm39) missense probably damaging 1.00
R5693:Pik3r5 UTSW 11 68,385,077 (GRCm39) missense probably damaging 1.00
R5841:Pik3r5 UTSW 11 68,383,096 (GRCm39) missense probably damaging 1.00
R6025:Pik3r5 UTSW 11 68,383,144 (GRCm39) missense probably damaging 0.97
R6168:Pik3r5 UTSW 11 68,383,501 (GRCm39) missense probably benign
R6243:Pik3r5 UTSW 11 68,382,826 (GRCm39) missense probably damaging 1.00
R6322:Pik3r5 UTSW 11 68,383,567 (GRCm39) missense probably benign
R6420:Pik3r5 UTSW 11 68,366,250 (GRCm39) nonsense probably null
R6505:Pik3r5 UTSW 11 68,383,615 (GRCm39) missense probably benign 0.16
R6534:Pik3r5 UTSW 11 68,381,443 (GRCm39) missense possibly damaging 0.59
R6817:Pik3r5 UTSW 11 68,377,407 (GRCm39) missense probably damaging 1.00
R7246:Pik3r5 UTSW 11 68,383,769 (GRCm39) missense probably benign 0.01
R7459:Pik3r5 UTSW 11 68,383,416 (GRCm39) missense probably benign 0.03
R7527:Pik3r5 UTSW 11 68,367,177 (GRCm39) missense probably damaging 1.00
R7739:Pik3r5 UTSW 11 68,381,324 (GRCm39) missense probably damaging 1.00
R7817:Pik3r5 UTSW 11 68,384,483 (GRCm39) missense probably damaging 0.99
R7877:Pik3r5 UTSW 11 68,381,431 (GRCm39) missense probably damaging 1.00
R7885:Pik3r5 UTSW 11 68,383,528 (GRCm39) missense possibly damaging 0.57
R7960:Pik3r5 UTSW 11 68,386,796 (GRCm39) missense probably benign 0.22
R8816:Pik3r5 UTSW 11 68,385,060 (GRCm39) missense probably damaging 1.00
R8836:Pik3r5 UTSW 11 68,385,104 (GRCm39) missense probably benign 0.06
R9131:Pik3r5 UTSW 11 68,383,099 (GRCm39) missense possibly damaging 0.64
R9649:Pik3r5 UTSW 11 68,381,720 (GRCm39) missense probably benign 0.00
R9706:Pik3r5 UTSW 11 68,381,426 (GRCm39) missense probably benign 0.00
Z1177:Pik3r5 UTSW 11 68,383,722 (GRCm39) missense possibly damaging 0.67
Posted On 2015-04-16