Incidental Mutation 'R7679:Pik3r3'
ID 592626
Institutional Source Beutler Lab
Gene Symbol Pik3r3
Ensembl Gene ENSMUSG00000028698
Gene Name phosphoinositide-3-kinase regulatory subunit 3
Synonyms p55pik, p55
MMRRC Submission 045707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R7679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116078815-116160253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116113392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 45 (M45K)
Ref Sequence ENSEMBL: ENSMUSP00000030464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030464] [ENSMUST00000106490] [ENSMUST00000147292] [ENSMUST00000216692]
AlphaFold Q64143
Predicted Effect probably benign
Transcript: ENSMUST00000030464
AA Change: M45K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030464
Gene: ENSMUSG00000028698
AA Change: M45K

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 benign
Transcript: ENSMUST00000106490
AA Change: M45K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102099
Gene: ENSMUSG00000028698
AA Change: M45K

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 benign
Transcript: ENSMUST00000147292
AA Change: M45K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118568
Gene: ENSMUSG00000028698
AA Change: M45K

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
PDB:4JPS|B 49 81 1e-9 PDB
SCOP:d2plda_ 56 82 4e-6 SMART
Blast:SH2 63 82 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000216692
AA Change: M86K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A C 14: 78,752,256 (GRCm39) Y206D Het
Atm A T 9: 53,353,797 (GRCm39) I2906N probably damaging Het
B4galnt4 T C 7: 140,647,678 (GRCm39) V422A probably benign Het
Bod1l TTCAGGGATC TTC 5: 41,977,986 (GRCm39) probably null Het
Ccar2 G A 14: 70,376,684 (GRCm39) Q887* probably null Het
Cdh13 A G 8: 119,963,658 (GRCm39) I413V probably benign Het
Cfap54 A G 10: 92,803,374 (GRCm39) V1556A probably benign Het
Chchd7 A T 4: 3,941,297 (GRCm39) N14Y probably damaging Het
Col24a1 C A 3: 145,105,110 (GRCm39) T824N possibly damaging Het
Col6a3 A T 1: 90,739,473 (GRCm39) Y859N possibly damaging Het
Dnaaf5 C T 5: 139,136,392 (GRCm39) P131S unknown Het
Erh T C 12: 80,684,345 (GRCm39) N44S probably benign Het
Esm1 T A 13: 113,346,646 (GRCm39) D90E probably damaging Het
Fbxo44 A G 4: 148,238,089 (GRCm39) F213L probably benign Het
Flnc A G 6: 29,456,789 (GRCm39) T2262A probably benign Het
Fmo9 T C 1: 166,495,058 (GRCm39) Q281R probably benign Het
Gdpgp1 G T 7: 79,888,324 (GRCm39) E118D probably benign Het
Gnas A T 2: 174,126,624 (GRCm39) Q53L probably damaging Het
Gpr142 G A 11: 114,697,533 (GRCm39) V360M possibly damaging Het
Grn A G 11: 102,323,895 (GRCm39) D46G probably benign Het
H2-T10 A G 17: 36,430,216 (GRCm39) F242L not run Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Hoxa9 A G 6: 52,201,288 (GRCm39) I251T probably damaging Het
Inpp5f C T 7: 128,296,247 (GRCm39) T866I possibly damaging Het
Itgb1 T A 8: 129,446,929 (GRCm39) N481K probably damaging Het
Leng9 C A 7: 4,152,659 (GRCm39) D6Y probably benign Het
Lox A C 18: 52,658,178 (GRCm39) F332V possibly damaging Het
Lrp1 G T 10: 127,424,297 (GRCm39) Y796* probably null Het
Lrrc32 G A 7: 98,148,894 (GRCm39) G558D possibly damaging Het
Lrrk2 A G 15: 91,610,389 (GRCm39) E707G possibly damaging Het
Matn4 A G 2: 164,231,578 (GRCm39) *625R probably null Het
Mcur1 T A 13: 43,697,959 (GRCm39) K314* probably null Het
Med1 G C 11: 98,046,887 (GRCm39) P1303R unknown Het
Mgam T C 6: 40,619,980 (GRCm39) L23P probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nfatc1 T C 18: 80,651,205 (GRCm39) I936V probably benign Het
Nol11 T C 11: 107,064,142 (GRCm39) S557G probably benign Het
Palb2 A G 7: 121,727,237 (GRCm39) I211T probably benign Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Pax2 G A 19: 44,749,376 (GRCm39) V40M probably damaging Het
Pik3cb T C 9: 98,970,660 (GRCm39) K344E probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pot1a A G 6: 25,771,633 (GRCm39) V196A probably benign Het
Prkdc T A 16: 15,649,183 (GRCm39) I3719N probably damaging Het
Psg16 G A 7: 16,827,685 (GRCm39) G123S probably damaging Het
Psme4 A G 11: 30,828,425 (GRCm39) D1815G probably damaging Het
Rpe65 C T 3: 159,310,030 (GRCm39) T101I probably damaging Het
Rpp25l A C 4: 41,712,326 (GRCm39) C150G unknown Het
Saxo4 T C 19: 10,459,618 (GRCm39) T30A probably damaging Het
Serpina1b A T 12: 103,696,774 (GRCm39) W212R probably damaging Het
Slc9a3 G A 13: 74,308,395 (GRCm39) R466H possibly damaging Het
Sned1 T C 1: 93,163,760 (GRCm39) L17P unknown Het
Speg C T 1: 75,382,959 (GRCm39) T1056I probably damaging Het
Tada1 T C 1: 166,219,540 (GRCm39) F281L probably benign Het
Tbcd G A 11: 121,494,534 (GRCm39) V1032I probably benign Het
Tlr3 A T 8: 45,852,088 (GRCm39) S270T probably benign Het
Txndc15 G T 13: 55,873,621 (GRCm39) R327L probably damaging Het
Zfp169 G C 13: 48,651,859 (GRCm39) L66V probably damaging Het
Zfp442 G T 2: 150,252,917 (GRCm39) Y45* probably null Het
Zzef1 A G 11: 72,784,104 (GRCm39) D2003G probably benign Het
Other mutations in Pik3r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03029:Pik3r3 APN 4 116,156,998 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGTAACATTTCAAAAGGGTCCC -3'
(R):5'- TCTTGAAGGGTTACCACACATAC -3'

Sequencing Primer
(F):5'- GGTCCCCCTGGCTAACACTAAC -3'
(R):5'- TTTAATCCCAGCACTTAGGAGGCAG -3'
Posted On 2019-11-12