Incidental Mutation 'IGL01953:Pik3r5'
ID181339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3r5
Ensembl Gene ENSMUSG00000020901
Gene Namephosphoinositide-3-kinase regulatory subunit 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL01953
Quality Score
Status
Chromosome11
Chromosomal Location68432121-68497849 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68494171 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 634 (D634G)
Ref Sequence ENSEMBL: ENSMUSP00000021283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021283]
Predicted Effect probably benign
Transcript: ENSMUST00000021283
AA Change: D634G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: D634G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,224,980 M261T probably benign Het
Anks3 G A 16: 4,960,544 A8V probably damaging Het
Atp6v0a4 A G 6: 38,054,617 S650P probably damaging Het
B3glct C A 5: 149,745,535 D311E probably benign Het
Cc2d1a G A 8: 84,143,978 P119S probably benign Het
Chdh T C 14: 30,035,347 V409A probably benign Het
Cipc T A 12: 86,952,764 V4E possibly damaging Het
Dock2 G T 11: 34,732,356 T70K probably benign Het
Dpf1 T C 7: 29,314,307 V269A probably damaging Het
Drc7 A T 8: 95,059,125 Y203F probably damaging Het
Dsg3 C T 18: 20,525,304 T324I probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Iqcd A T 5: 120,600,489 N124I probably benign Het
Kdm7a T C 6: 39,146,902 N776S probably benign Het
Lama5 C T 2: 180,190,704 R1684H probably damaging Het
Lrp12 A T 15: 39,878,101 V406D probably damaging Het
Lrrc74a T A 12: 86,741,720 L158Q probably damaging Het
Mef2d C T 3: 88,156,506 T80I probably damaging Het
Megf11 T C 9: 64,690,088 C681R probably damaging Het
Mex3c A G 18: 73,590,033 D399G probably damaging Het
Muc20 T C 16: 32,793,703 T435A probably benign Het
Myo5b T C 18: 74,569,767 Y10H possibly damaging Het
Olfr103 T C 17: 37,336,875 D119G probably damaging Het
Olfr1286 A G 2: 111,420,312 L213P probably benign Het
Otoa T A 7: 121,160,325 probably null Het
P4ha2 T C 11: 54,114,170 F124S probably benign Het
Phkg2 C T 7: 127,582,340 P232S probably damaging Het
Piezo1 T A 8: 122,491,184 Q800L probably damaging Het
Pign C A 1: 105,589,039 probably benign Het
Ptpn9 A G 9: 57,056,788 T402A possibly damaging Het
Relb A C 7: 19,615,557 probably null Het
Scgb1b30 A G 7: 34,099,877 Q78R probably damaging Het
Sema6a C T 18: 47,290,120 W273* probably null Het
Sestd1 A G 2: 77,212,469 V247A possibly damaging Het
Specc1 T A 11: 62,118,296 S293T probably benign Het
Sptbn2 A G 19: 4,749,693 D2145G probably benign Het
Trim43b T A 9: 89,085,443 D380V possibly damaging Het
Vmn1r236 A G 17: 21,287,211 Y197C possibly damaging Het
Vmn1r79 A G 7: 12,176,455 Y88C probably damaging Het
Vmn2r61 G A 7: 42,300,189 V678M probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdfy3 A T 5: 101,895,028 Y1937* probably null Het
Other mutations in Pik3r5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Pik3r5 APN 11 68496194 missense possibly damaging 0.68
IGL01400:Pik3r5 APN 11 68494547 missense probably benign 0.01
IGL01597:Pik3r5 APN 11 68496001 missense probably damaging 1.00
IGL01622:Pik3r5 APN 11 68486626 splice site probably null
IGL01623:Pik3r5 APN 11 68486626 splice site probably null
IGL01878:Pik3r5 APN 11 68492530 missense probably benign 0.00
IGL02056:Pik3r5 APN 11 68490855 missense possibly damaging 0.86
IGL02345:Pik3r5 APN 11 68492726 missense probably benign 0.03
palmetto UTSW 11 68494233 missense probably damaging 1.00
Palmito UTSW 11 68492000 missense probably damaging 1.00
palms UTSW 11 68486622 critical splice donor site probably null
Serenoa_repens UTSW 11 68475424 nonsense probably null
IGL02799:Pik3r5 UTSW 11 68495947 missense probably damaging 0.98
R0077:Pik3r5 UTSW 11 68486622 critical splice donor site probably null
R0092:Pik3r5 UTSW 11 68492803 missense probably benign
R0105:Pik3r5 UTSW 11 68490511 missense probably damaging 0.99
R0118:Pik3r5 UTSW 11 68490480 missense probably damaging 1.00
R1204:Pik3r5 UTSW 11 68494224 missense probably benign 0.03
R1447:Pik3r5 UTSW 11 68494177 missense probably benign 0.18
R1865:Pik3r5 UTSW 11 68492492 missense probably damaging 1.00
R2034:Pik3r5 UTSW 11 68493577 missense probably damaging 0.99
R2356:Pik3r5 UTSW 11 68492917 missense probably damaging 1.00
R4588:Pik3r5 UTSW 11 68493261 intron probably benign
R4716:Pik3r5 UTSW 11 68495204 missense possibly damaging 0.48
R4960:Pik3r5 UTSW 11 68493638 missense probably benign 0.19
R5217:Pik3r5 UTSW 11 68491964 missense possibly damaging 0.67
R5518:Pik3r5 UTSW 11 68477468 missense possibly damaging 0.86
R5528:Pik3r5 UTSW 11 68495977 missense probably damaging 1.00
R5554:Pik3r5 UTSW 11 68494233 missense probably damaging 1.00
R5693:Pik3r5 UTSW 11 68494251 missense probably damaging 1.00
R5841:Pik3r5 UTSW 11 68492270 missense probably damaging 1.00
R6025:Pik3r5 UTSW 11 68492318 missense probably damaging 0.97
R6168:Pik3r5 UTSW 11 68492675 missense probably benign
R6243:Pik3r5 UTSW 11 68492000 missense probably damaging 1.00
R6322:Pik3r5 UTSW 11 68492741 missense probably benign
R6420:Pik3r5 UTSW 11 68475424 nonsense probably null
R6505:Pik3r5 UTSW 11 68492789 missense probably benign 0.16
R6534:Pik3r5 UTSW 11 68490617 missense possibly damaging 0.59
R6817:Pik3r5 UTSW 11 68486581 missense probably damaging 1.00
Posted On2014-05-07