Incidental Mutation 'PIT4305001:Pik3r3'
ID 554541
Institutional Source Beutler Lab
Gene Symbol Pik3r3
Ensembl Gene ENSMUSG00000028698
Gene Name phosphoinositide-3-kinase regulatory subunit 3
Synonyms p55pik, p55
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # PIT4305001 (G1)
Quality Score 204.009
Status Not validated
Chromosome 4
Chromosomal Location 116078815-116160253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 116149323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 349 (N349T)
Ref Sequence ENSEMBL: ENSMUSP00000030464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030464] [ENSMUST00000106490] [ENSMUST00000216692]
AlphaFold Q64143
Predicted Effect probably benign
Transcript: ENSMUST00000030464
AA Change: N349T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030464
Gene: ENSMUSG00000028698
AA Change: N349T

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: N290T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102099
Gene: ENSMUSG00000028698
AA Change: N290T

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: ENSMUST00000216692
AA Change: N390T

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.3%
  • 10x: 86.8%
  • 20x: 76.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,086,610 (GRCm39) N801D probably benign Het
Adcy2 T C 13: 68,826,721 (GRCm39) K661R probably benign Het
Akap1 A T 11: 88,735,204 (GRCm39) M486K probably benign Het
Arhgap40 T A 2: 158,373,825 (GRCm39) I202N probably benign Het
C1qtnf2 T A 11: 43,382,022 (GRCm39) L248Q probably damaging Het
Casp1 A T 9: 5,306,135 (GRCm39) H340L probably benign Het
Cd5 A G 19: 10,703,750 (GRCm39) V104A possibly damaging Het
Celsr1 T A 15: 85,785,138 (GRCm39) E3032V possibly damaging Het
Cts7 A G 13: 61,504,386 (GRCm39) I59T probably damaging Het
Cutc G T 19: 43,756,708 (GRCm39) A267S probably damaging Het
Dmwd A G 7: 18,814,643 (GRCm39) Q431R probably damaging Het
Dnah6 T C 6: 73,042,738 (GRCm39) N3280S probably benign Het
Dnah7b A T 1: 46,412,508 (GRCm39) N4039I probably damaging Het
Dnaja4 T C 9: 54,617,918 (GRCm39) I260T probably benign Het
Drd5 T C 5: 38,477,927 (GRCm39) F307L probably damaging Het
Dsc2 C T 18: 20,179,300 (GRCm39) S256N probably damaging Het
Dstyk G T 1: 132,383,634 (GRCm39) E617* probably null Het
Dusp15 G A 2: 152,787,396 (GRCm39) H72Y probably benign Het
Dysf C T 6: 84,077,216 (GRCm39) R660* probably null Het
Fbxl13 T A 5: 21,727,146 (GRCm39) I584L probably benign Het
Gsap T C 5: 21,391,407 (GRCm39) L16P probably damaging Het
Hgsnat C T 8: 26,435,227 (GRCm39) A636T possibly damaging Het
Hivep1 A G 13: 42,335,147 (GRCm39) T161A Het
Hspg2 T C 4: 137,277,684 (GRCm39) S2928P possibly damaging Het
Ifi214 G A 1: 173,355,485 (GRCm39) P108S probably benign Het
Il17ra A T 6: 120,458,367 (GRCm39) Y506F probably damaging Het
Il9r T A 11: 32,144,734 (GRCm39) Q53L probably benign Het
Irf2bp2 C T 8: 127,319,398 (GRCm39) G260R probably damaging Het
Jdp2 T A 12: 85,685,626 (GRCm39) I129N probably damaging Het
Kif1b T C 4: 149,305,249 (GRCm39) probably null Het
Klrd1 A G 6: 129,573,670 (GRCm39) T120A unknown Het
Lfng A G 5: 140,598,283 (GRCm39) N202D probably damaging Het
Ltbp3 A G 19: 5,802,095 (GRCm39) E757G probably damaging Het
Ltn1 G A 16: 87,217,211 (GRCm39) P342L probably damaging Het
Lum A C 10: 97,404,738 (GRCm39) Y211S probably damaging Het
Ncapd2 G A 6: 125,160,990 (GRCm39) R292* probably null Het
Nlrc4 T C 17: 74,753,304 (GRCm39) T360A probably damaging Het
Or4c1 T C 2: 89,133,727 (GRCm39) I70V probably benign Het
Or7g32 T C 9: 19,389,357 (GRCm39) Y63C probably damaging Het
Pakap C A 4: 57,638,029 (GRCm39) T22K possibly damaging Het
Pde3a A G 6: 141,438,036 (GRCm39) D1035G probably benign Het
Phf20l1 A T 15: 66,484,901 (GRCm39) K322I possibly damaging Het
Poc1a A G 9: 106,227,028 (GRCm39) Q420R Het
Prl7d1 A T 13: 27,898,320 (GRCm39) M63K possibly damaging Het
Rap1gds1 C A 3: 138,662,061 (GRCm39) M398I probably benign Het
Rapgef6 T A 11: 54,570,203 (GRCm39) V1192D probably damaging Het
Rif1 T C 2: 52,001,970 (GRCm39) V166A Het
Robo4 T C 9: 37,322,687 (GRCm39) Y847H probably damaging Het
Sardh T C 2: 27,118,326 (GRCm39) N468S probably damaging Het
Sema5a A G 15: 32,628,345 (GRCm39) T553A probably benign Het
Serpina12 A G 12: 104,001,976 (GRCm39) Y247H probably damaging Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Ston2 G T 12: 91,615,276 (GRCm39) D377E possibly damaging Het
Syne1 A G 10: 5,283,023 (GRCm39) S1557P probably damaging Het
Syt6 C T 3: 103,482,769 (GRCm39) R26W possibly damaging Het
Tep1 C T 14: 51,066,684 (GRCm39) G2305R possibly damaging Het
Ticrr A G 7: 79,328,771 (GRCm39) T637A possibly damaging Het
Tnn A T 1: 159,913,647 (GRCm39) F1546Y possibly damaging Het
Tpr A G 1: 150,315,888 (GRCm39) D2055G possibly damaging Het
Trim39 A G 17: 36,579,862 (GRCm39) V31A possibly damaging Het
Trpc7 G T 13: 57,035,321 (GRCm39) T204K probably benign Het
Urgcp T C 11: 5,667,996 (GRCm39) Y157C probably damaging Het
Vmn1r81 A T 7: 11,994,590 (GRCm39) I6K probably benign Het
Other mutations in Pik3r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03029:Pik3r3 APN 4 116,156,998 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGGAACCTGGATGCATACAGTG -3'
(R):5'- TTGAAAAGGTCATATCCCCAGAGAAG -3'

Sequencing Primer
(F):5'- AGTGCCACTCAAATGTCTTAGCG -3'
(R):5'- GGTCATATCCCCAGAGAAGACTTAC -3'
Posted On 2019-06-07