Incidental Mutation 'R1447:Pik3r5'
ID 160720
Institutional Source Beutler Lab
Gene Symbol Pik3r5
Ensembl Gene ENSMUSG00000020901
Gene Name phosphoinositide-3-kinase regulatory subunit 5
Synonyms p101, Foap2
MMRRC Submission 039502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1447 (G1)
Quality Score 191
Status Not validated
Chromosome 11
Chromosomal Location 68322951-68388675 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68385003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 636 (R636Q)
Ref Sequence ENSEMBL: ENSMUSP00000021283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021283]
AlphaFold Q5SW28
Predicted Effect probably benign
Transcript: ENSMUST00000021283
AA Change: R636Q

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: R636Q

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
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 84.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,447 (GRCm39) D603V probably benign Het
Ahnak A T 19: 8,984,446 (GRCm39) E1910V probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amotl1 A G 9: 14,467,038 (GRCm39) V704A probably benign Het
Ankrd50 A T 3: 38,509,691 (GRCm39) V892E probably damaging Het
Aoc1 G A 6: 48,883,176 (GRCm39) V351I probably benign Het
Atp6v1b1 T C 6: 83,734,924 (GRCm39) V412A possibly damaging Het
Atp8b2 A T 3: 89,851,477 (GRCm39) I906N probably damaging Het
Bltp1 T C 3: 37,019,735 (GRCm39) L2048P probably damaging Het
Bnc2 A G 4: 84,211,457 (GRCm39) V304A probably benign Het
Btaf1 A G 19: 36,969,854 (GRCm39) D1176G probably benign Het
C1qtnf3 G A 15: 10,952,735 (GRCm39) G66R probably damaging Het
Ccdc162 T C 10: 41,456,243 (GRCm39) E360G probably damaging Het
Csmd1 C A 8: 15,975,306 (GRCm39) G2968* probably null Het
Cyp2j7 A T 4: 96,083,530 (GRCm39) F473L possibly damaging Het
Ddx24 T C 12: 103,390,566 (GRCm39) K142E possibly damaging Het
Dnah1 A T 14: 31,028,855 (GRCm39) M625K probably benign Het
Dnah9 A T 11: 65,999,308 (GRCm39) Y944N possibly damaging Het
Eef1akmt1 T A 14: 57,803,441 (GRCm39) K38* probably null Het
Enpp2 C T 15: 54,782,994 (GRCm39) probably null Het
Eps8l1 A G 7: 4,477,055 (GRCm39) E508G probably damaging Het
Etaa1 A T 11: 17,896,625 (GRCm39) D497E possibly damaging Het
Fam181b C T 7: 92,729,368 (GRCm39) A47V probably damaging Het
Fubp3 T C 2: 31,490,559 (GRCm39) V221A probably damaging Het
Golga2 T C 2: 32,187,788 (GRCm39) V191A possibly damaging Het
Haus5 G T 7: 30,361,216 (GRCm39) probably null Het
Hydin T C 8: 111,249,798 (GRCm39) L2247P probably damaging Het
Lama5 A C 2: 179,827,671 (GRCm39) I2197S probably damaging Het
Mapre3 C T 5: 31,019,151 (GRCm39) probably benign Het
Mast2 C A 4: 116,169,210 (GRCm39) M733I probably benign Het
Mphosph10 A T 7: 64,030,698 (GRCm39) F514I probably damaging Het
Mterf3 A G 13: 67,065,103 (GRCm39) L266P probably damaging Het
Nup205 A G 6: 35,192,120 (GRCm39) D1114G probably benign Het
Or1ak2 T G 2: 36,827,788 (GRCm39) V219G possibly damaging Het
Or1e21 A G 11: 73,344,700 (GRCm39) F113L probably benign Het
Phf24 G T 4: 42,938,232 (GRCm39) E119* probably null Het
Plaat3 G A 19: 7,556,598 (GRCm39) R133H probably benign Het
Rida T A 15: 34,488,757 (GRCm39) Q45L possibly damaging Het
Ros1 T C 10: 51,974,954 (GRCm39) T1544A possibly damaging Het
Rpl7 T A 1: 16,172,821 (GRCm39) Y166F probably benign Het
Rps6ka5 A G 12: 100,544,084 (GRCm39) I338T probably benign Het
Scn3a A T 2: 65,300,324 (GRCm39) N1347K probably damaging Het
Serpinb6d A G 13: 33,854,739 (GRCm39) D238G probably benign Het
Sh3rf2 T A 18: 42,234,736 (GRCm39) I173N probably benign Het
Smarcc2 T C 10: 128,305,660 (GRCm39) probably null Het
Thoc2l T C 5: 104,670,070 (GRCm39) S1531P possibly damaging Het
Thsd4 T C 9: 59,904,496 (GRCm39) N567D probably benign Het
Tmprss13 C A 9: 45,239,878 (GRCm39) P62Q unknown Het
Tmprss7 T C 16: 45,501,033 (GRCm39) Q256R probably benign Het
Tssc4 A G 7: 142,623,892 (GRCm39) T67A probably benign Het
Tssk5 G A 15: 76,256,304 (GRCm39) Q372* probably null Het
Usp47 G T 7: 111,673,775 (GRCm39) probably null Het
Utp15 A G 13: 98,389,386 (GRCm39) I304T possibly damaging Het
Vmn1r35 A C 6: 66,655,890 (GRCm39) V93G probably benign Het
Zfhx3 A C 8: 109,675,076 (GRCm39) Q2042P probably benign Het
Zfp532 C A 18: 65,758,061 (GRCm39) R665S probably damaging Het
Zfp976 G T 7: 42,262,023 (GRCm39) P605T possibly damaging Het
Zfpl1 A G 19: 6,132,649 (GRCm39) V125A possibly 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
IGL02345:Pik3r5 APN 11 68,383,552 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TGCCCAACACTGTGTCCAGACC -3'
(R):5'- CACCTGAAGCCTTGATAGCCCG -3'

Sequencing Primer
(F):5'- AGACCCGGTCTCACGTTC -3'
(R):5'- GTCTTCTCCCCGGTGACAAAG -3'
Posted On 2014-03-14