Incidental Mutation 'IGL01116:Pik3r6'
ID 52324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3r6
Ensembl Gene ENSMUSG00000046207
Gene Name phosphoinositide-3-kinase regulatory subunit 5
Synonyms p87PIKAP, p84 Pikap
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01116
Quality Score
Status
Chromosome 11
Chromosomal Location 68393845-68443524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68422276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 225 (Y225C)
Ref Sequence ENSEMBL: ENSMUSP00000099673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060441] [ENSMUST00000102613]
AlphaFold Q3U6Q4
Predicted Effect probably benign
Transcript: ENSMUST00000060441
AA Change: Y225C

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: Y225C

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 7 306 7.4e-28 PFAM
low complexity region 310 324 N/A INTRINSIC
Pfam:PI3K_1B_p101 394 755 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102613
AA Change: Y225C

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: Y225C

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 3 335 1.8e-111 PFAM
Pfam:PI3K_1B_p101 332 752 1.6e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153671
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 11. The protein binds to both the catalytic subunit and to G beta-gamma, and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small reductions in lymphocyte and granulocyte and a slight increase in neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,849,911 (GRCm39) M951L probably benign Het
Als2 T C 1: 59,225,163 (GRCm39) probably benign Het
Arhgap26 T C 18: 39,244,856 (GRCm39) V167A probably damaging Het
Bbs1 A G 19: 4,952,867 (GRCm39) probably benign Het
Capn11 A T 17: 45,949,806 (GRCm39) probably benign Het
Cenpl G T 1: 160,910,857 (GRCm39) S268I possibly damaging Het
Coq8b T C 7: 26,939,282 (GRCm39) V144A possibly damaging Het
Exo1 T A 1: 175,728,963 (GRCm39) C10S possibly damaging Het
Fam193b A T 13: 55,691,266 (GRCm39) S203T probably damaging Het
Ggact T C 14: 123,129,167 (GRCm39) N16S probably damaging Het
Gm3940 A T 1: 52,129,882 (GRCm39) probably benign Het
Gm5458 G T 14: 19,649,760 (GRCm39) L155I probably damaging Het
Golm1 T C 13: 59,797,470 (GRCm39) K125R probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria1 A G 11: 57,127,801 (GRCm39) N337D probably damaging Het
Gripap1 G A X: 7,678,705 (GRCm39) G464D probably benign Het
Grk1 A G 8: 13,455,404 (GRCm39) D96G possibly damaging Het
Hsf1 T C 15: 76,382,403 (GRCm39) V258A probably benign Het
Ighv7-4 A G 12: 114,186,653 (GRCm39) S40P probably damaging Het
Igkv4-50 G A 6: 69,677,921 (GRCm39) S61L probably benign Het
Igkv4-62 C T 6: 69,377,035 (GRCm39) G38E probably damaging Het
Ints1 T C 5: 139,757,437 (GRCm39) D358G probably damaging Het
Madd A G 2: 90,984,888 (GRCm39) probably benign Het
Map3k6 A G 4: 132,974,439 (GRCm39) S580G probably damaging Het
Myef2 A G 2: 124,940,402 (GRCm39) M383T probably damaging Het
Myo3b T C 2: 70,119,730 (GRCm39) L930P probably damaging Het
Ndufaf3 C T 9: 108,444,068 (GRCm39) R20Q probably benign Het
Npr2 T C 4: 43,640,248 (GRCm39) S328P probably damaging Het
Or1r1 A T 11: 73,875,144 (GRCm39) C97S probably damaging Het
Or4k15b T A 14: 50,272,507 (GRCm39) M118L probably benign Het
Pdpr T C 8: 111,839,342 (GRCm39) I155T possibly damaging Het
Phf11b A T 14: 59,560,631 (GRCm39) I216K probably benign Het
Phkg1 T C 5: 129,893,813 (GRCm39) probably null Het
Plekhh2 A T 17: 84,914,356 (GRCm39) D1253V possibly damaging Het
Plppr3 T C 10: 79,702,757 (GRCm39) T155A probably damaging Het
Ppp6r2 T C 15: 89,166,192 (GRCm39) F732S probably damaging Het
Ryr1 A G 7: 28,799,627 (GRCm39) probably benign Het
Slc16a8 T G 15: 79,135,432 (GRCm39) S459R probably damaging Het
Slc25a12 A T 2: 71,123,696 (GRCm39) probably benign Het
Slc38a2 T C 15: 96,591,066 (GRCm39) probably benign Het
Slit1 C A 19: 41,594,824 (GRCm39) W1182L possibly damaging Het
Snx2 C T 18: 53,327,495 (GRCm39) probably benign Het
Sos1 A T 17: 80,752,929 (GRCm39) V335D probably damaging Het
St18 A G 1: 6,872,856 (GRCm39) D197G probably damaging Het
Ston2 G T 12: 91,615,522 (GRCm39) N295K possibly damaging Het
Stpg3 A G 2: 25,103,191 (GRCm39) probably benign Het
Tmem63a A G 1: 180,799,654 (GRCm39) I675V probably damaging Het
Vmn2r16 T A 5: 109,488,294 (GRCm39) L389Q probably damaging Het
Vps13d C A 4: 144,699,320 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,934 (GRCm39) D3012E probably damaging Het
Other mutations in Pik3r6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Pik3r6 APN 11 68,425,077 (GRCm39) missense probably damaging 0.98
IGL00913:Pik3r6 APN 11 68,442,147 (GRCm39) missense probably damaging 1.00
IGL00984:Pik3r6 APN 11 68,424,445 (GRCm39) missense probably benign 0.39
IGL01110:Pik3r6 APN 11 68,419,652 (GRCm39) critical splice donor site probably null
IGL02839:Pik3r6 APN 11 68,417,238 (GRCm39) missense probably damaging 1.00
PIT4142001:Pik3r6 UTSW 11 68,417,931 (GRCm39) missense probably damaging 1.00
R0044:Pik3r6 UTSW 11 68,435,576 (GRCm39) missense probably benign 0.02
R0062:Pik3r6 UTSW 11 68,419,635 (GRCm39) missense probably damaging 1.00
R0062:Pik3r6 UTSW 11 68,419,635 (GRCm39) missense probably damaging 1.00
R0266:Pik3r6 UTSW 11 68,417,234 (GRCm39) nonsense probably null
R0454:Pik3r6 UTSW 11 68,419,608 (GRCm39) missense possibly damaging 0.88
R0906:Pik3r6 UTSW 11 68,426,927 (GRCm39) splice site probably benign
R1119:Pik3r6 UTSW 11 68,436,698 (GRCm39) missense probably benign 0.05
R1440:Pik3r6 UTSW 11 68,422,271 (GRCm39) missense possibly damaging 0.91
R1664:Pik3r6 UTSW 11 68,426,932 (GRCm39) missense probably benign
R1831:Pik3r6 UTSW 11 68,434,860 (GRCm39) missense probably benign 0.26
R2144:Pik3r6 UTSW 11 68,434,437 (GRCm39) nonsense probably null
R4013:Pik3r6 UTSW 11 68,424,347 (GRCm39) missense possibly damaging 0.85
R4754:Pik3r6 UTSW 11 68,435,601 (GRCm39) missense probably damaging 1.00
R4770:Pik3r6 UTSW 11 68,420,720 (GRCm39) missense probably damaging 1.00
R4860:Pik3r6 UTSW 11 68,434,879 (GRCm39) splice site probably benign
R4974:Pik3r6 UTSW 11 68,430,771 (GRCm39) missense probably damaging 1.00
R5033:Pik3r6 UTSW 11 68,424,294 (GRCm39) nonsense probably null
R5787:Pik3r6 UTSW 11 68,430,753 (GRCm39) missense possibly damaging 0.54
R5918:Pik3r6 UTSW 11 68,416,497 (GRCm39) nonsense probably null
R6164:Pik3r6 UTSW 11 68,442,799 (GRCm39) missense probably benign 0.00
R6192:Pik3r6 UTSW 11 68,434,455 (GRCm39) missense probably damaging 1.00
R6440:Pik3r6 UTSW 11 68,424,522 (GRCm39) missense probably benign 0.09
R7699:Pik3r6 UTSW 11 68,419,389 (GRCm39) missense probably damaging 1.00
R7700:Pik3r6 UTSW 11 68,419,389 (GRCm39) missense probably damaging 1.00
R7922:Pik3r6 UTSW 11 68,424,701 (GRCm39) missense probably benign 0.00
R7964:Pik3r6 UTSW 11 68,424,565 (GRCm39) missense probably benign 0.01
R8473:Pik3r6 UTSW 11 68,417,207 (GRCm39) missense probably benign 0.02
R8515:Pik3r6 UTSW 11 68,430,783 (GRCm39) missense probably damaging 1.00
R8883:Pik3r6 UTSW 11 68,424,468 (GRCm39) missense probably benign
R9545:Pik3r6 UTSW 11 68,422,365 (GRCm39) missense probably damaging 1.00
R9623:Pik3r6 UTSW 11 68,442,159 (GRCm39) missense possibly damaging 0.55
R9762:Pik3r6 UTSW 11 68,424,358 (GRCm39) nonsense probably null
W0251:Pik3r6 UTSW 11 68,424,697 (GRCm39) missense probably benign 0.01
Z1088:Pik3r6 UTSW 11 68,416,428 (GRCm39) missense probably damaging 0.98
Z1176:Pik3r6 UTSW 11 68,435,591 (GRCm39) missense probably benign 0.12
Z1176:Pik3r6 UTSW 11 68,411,026 (GRCm39) start gained probably benign
Z1177:Pik3r6 UTSW 11 68,442,053 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21