Incidental Mutation 'IGL03029:Pik3r3'
ID 408347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3r3
Ensembl Gene ENSMUSG00000028698
Gene Name phosphoinositide-3-kinase regulatory subunit 3
Synonyms p55pik, p55
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL03029
Quality Score
Status
Chromosome 4
Chromosomal Location 116078815-116160253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 116156998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 393 (V393G)
Ref Sequence ENSEMBL: ENSMUSP00000102099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030464] [ENSMUST00000106490] [ENSMUST00000216692]
AlphaFold Q64143
Predicted Effect probably damaging
Transcript: ENSMUST00000030464
AA Change: V452G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030464
Gene: ENSMUSG00000028698
AA Change: V452G

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
SH2 63 146 2.36e-29 SMART
Pfam:PI3K_P85_iSH2 163 331 2.7e-66 PFAM
SH2 356 438 4.34e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106490
AA Change: V393G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102099
Gene: ENSMUSG00000028698
AA Change: V393G

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
SH2 63 146 2.36e-29 SMART
SH2 297 379 4.34e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000216692
AA Change: V493G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,312,314 (GRCm39) D213V probably damaging Het
Akap6 T C 12: 52,933,195 (GRCm39) L229P probably damaging Het
Ankrd10 A T 8: 11,669,304 (GRCm39) probably null Het
Arfgap3 C T 15: 83,206,851 (GRCm39) E246K probably damaging Het
Cadps G T 14: 12,376,675 (GRCm38) T1274K probably damaging Het
Cd46 T C 1: 194,768,451 (GRCm39) T89A probably benign Het
Cylc1 A C X: 110,156,944 (GRCm39) probably benign Het
Dach2 T A X: 112,724,833 (GRCm39) L492* probably null Het
Dlc1 T C 8: 37,038,416 (GRCm39) probably null Het
Fanci T C 7: 79,093,747 (GRCm39) V1033A probably benign Het
Fat4 T C 3: 39,036,740 (GRCm39) I3464T possibly damaging Het
Fus A G 7: 127,584,712 (GRCm39) probably benign Het
Garin5b G T 7: 4,760,839 (GRCm39) N624K possibly damaging Het
Hectd3 G T 4: 116,854,162 (GRCm39) E271* probably null Het
Herc2 T C 7: 55,818,715 (GRCm39) L2802P probably damaging Het
Hk2 G A 6: 82,715,314 (GRCm39) R407C probably damaging Het
Josd2 T C 7: 44,120,601 (GRCm39) S71P probably damaging Het
Kif20b A G 19: 34,928,313 (GRCm39) T1152A probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nup188 T C 2: 30,212,592 (GRCm39) probably benign Het
Or1i2 T A 10: 78,447,792 (GRCm39) I228F probably benign Het
Pank1 T A 19: 34,798,535 (GRCm39) I476F probably damaging Het
Pdcd6 A G 13: 74,457,899 (GRCm39) Y91H probably damaging Het
Poglut3 T C 9: 53,295,588 (GRCm39) probably null Het
Prx C T 7: 27,207,486 (GRCm39) R48* probably null Het
Rbm5 A G 9: 107,631,652 (GRCm39) S222P possibly damaging Het
Rev3l T A 10: 39,704,482 (GRCm39) I302N probably benign Het
Rnf139 T C 15: 58,770,967 (GRCm39) F331L probably damaging Het
Shisa4 G T 1: 135,300,914 (GRCm39) Q119K probably damaging Het
Shisa6 T A 11: 66,108,839 (GRCm39) E346V probably damaging Het
Slc6a3 A T 13: 73,686,816 (GRCm39) E61V probably damaging Het
Slc9a7 T A X: 20,157,608 (GRCm39) M106L probably benign Het
Srek1 A G 13: 103,900,468 (GRCm39) probably benign Het
Strc G A 2: 121,194,525 (GRCm39) L1788F possibly damaging Het
Styk1 T C 6: 131,277,523 (GRCm39) S284G probably benign Het
Top2a T A 11: 98,909,625 (GRCm39) T158S probably benign Het
Vangl1 C T 3: 102,091,400 (GRCm39) V229M probably damaging Het
Vsig1 A G X: 139,827,261 (GRCm39) T137A possibly damaging Het
Other mutations in Pik3r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Pik3r3 UTSW 4 116,149,323 (GRCm39) missense probably benign 0.02
R0126:Pik3r3 UTSW 4 116,113,465 (GRCm39) missense probably damaging 0.98
R1667:Pik3r3 UTSW 4 116,079,514 (GRCm39) missense probably damaging 0.99
R2850:Pik3r3 UTSW 4 116,127,981 (GRCm39) splice site probably benign
R4974:Pik3r3 UTSW 4 116,143,388 (GRCm39) missense probably benign 0.01
R5871:Pik3r3 UTSW 4 116,143,355 (GRCm39) nonsense probably null
R5908:Pik3r3 UTSW 4 116,129,955 (GRCm39) missense probably benign 0.02
R6562:Pik3r3 UTSW 4 116,157,006 (GRCm39) nonsense probably null
R7378:Pik3r3 UTSW 4 116,128,027 (GRCm39) missense probably benign 0.00
R7679:Pik3r3 UTSW 4 116,113,392 (GRCm39) missense probably benign 0.01
R8423:Pik3r3 UTSW 4 116,079,572 (GRCm39) missense probably benign 0.00
R9087:Pik3r3 UTSW 4 116,148,931 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02