Incidental Mutation 'PIT4305001:Pik3r3'
ID554541
Institutional Source Beutler Lab
Gene Symbol Pik3r3
Ensembl Gene ENSMUSG00000028698
Gene Namephosphoinositide-3-kinase regulatory subunit 3
Synonymsp55pik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #PIT4305001 (G1)
Quality Score204.009
Status Not validated
Chromosome4
Chromosomal Location116221618-116303056 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 116292126 bp
ZygosityHeterozygous
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]
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: 171,259,041 N801D probably benign Het
Adcy2 T C 13: 68,678,602 K661R probably benign Het
Akap1 A T 11: 88,844,378 M486K probably benign Het
Arhgap40 T A 2: 158,531,905 I202N probably benign Het
C1qtnf2 T A 11: 43,491,195 L248Q probably damaging Het
Casp1 A T 9: 5,306,135 H340L probably benign Het
Cd5 A G 19: 10,726,386 V104A possibly damaging Het
Celsr1 T A 15: 85,900,937 E3032V possibly damaging Het
Cts7 A G 13: 61,356,572 I59T probably damaging Het
Cutc G T 19: 43,768,269 A267S probably damaging Het
Dmwd A G 7: 19,080,718 Q431R probably damaging Het
Dnah6 T C 6: 73,065,755 N3280S probably benign Het
Dnah7b A T 1: 46,373,348 N4039I probably damaging Het
Dnaja4 T C 9: 54,710,634 I260T probably benign Het
Drd5 T C 5: 38,320,584 F307L probably damaging Het
Dsc2 C T 18: 20,046,243 S256N probably damaging Het
Dstyk G T 1: 132,455,896 E617* probably null Het
Dusp15 G A 2: 152,945,476 H72Y probably benign Het
Dysf C T 6: 84,100,234 R660* probably null Het
Fbxl13 T A 5: 21,522,148 I584L probably benign Het
Gm10354 T C 5: 14,978,790 D29G probably benign Het
Gsap T C 5: 21,186,409 L16P probably damaging Het
Hgsnat C T 8: 25,945,199 A636T possibly damaging Het
Hivep1 A G 13: 42,181,671 T161A Het
Hspg2 T C 4: 137,550,373 S2928P possibly damaging Het
Ifi214 G A 1: 173,527,919 P108S probably benign Het
Il17ra A T 6: 120,481,406 Y506F probably damaging Het
Il9r T A 11: 32,194,734 Q53L probably benign Het
Irf2bp2 C T 8: 126,592,659 G260R probably damaging Het
Jdp2 T A 12: 85,638,852 I129N probably damaging Het
Kif1b T C 4: 149,220,792 probably null Het
Klrd1 A G 6: 129,596,707 T120A unknown Het
Lfng A G 5: 140,612,528 N202D probably damaging Het
Ltbp3 A G 19: 5,752,067 E757G probably damaging Het
Ltn1 G A 16: 87,420,323 P342L probably damaging Het
Lum A C 10: 97,568,876 Y211S probably damaging Het
Ncapd2 G A 6: 125,184,027 R292* probably null Het
Nlrc4 T C 17: 74,446,309 T360A probably damaging Het
Olfr1231 T C 2: 89,303,383 I70V probably benign Het
Olfr850 T C 9: 19,478,061 Y63C probably damaging Het
Palm2 C A 4: 57,638,029 T22K possibly damaging Het
Pde3a A G 6: 141,492,310 D1035G probably benign Het
Phf20l1 A T 15: 66,613,052 K322I possibly damaging Het
Poc1a A G 9: 106,349,829 Q420R Het
Prl7d1 A T 13: 27,714,337 M63K possibly damaging Het
Rap1gds1 C A 3: 138,956,300 M398I probably benign Het
Rapgef6 T A 11: 54,679,377 V1192D probably damaging Het
Rif1 T C 2: 52,111,958 V166A Het
Robo4 T C 9: 37,411,391 Y847H probably damaging Het
Sardh T C 2: 27,228,314 N468S probably damaging Het
Sema5a A G 15: 32,628,199 T553A probably benign Het
Serpina12 A G 12: 104,035,717 Y247H probably damaging Het
Ston2 G T 12: 91,648,502 D377E possibly damaging Het
Syne1 A G 10: 5,333,023 S1557P probably damaging Het
Syt6 C T 3: 103,575,453 R26W possibly damaging Het
Tep1 C T 14: 50,829,227 G2305R possibly damaging Het
Ticrr A G 7: 79,679,023 T637A possibly damaging Het
Tnn A T 1: 160,086,077 F1546Y possibly damaging Het
Tpr A G 1: 150,440,137 D2055G possibly damaging Het
Trim39 A G 17: 36,268,970 V31A possibly damaging Het
Trpc7 G T 13: 56,887,508 T204K probably benign Het
Urgcp T C 11: 5,717,996 Y157C probably damaging Het
Vmn1r81 A T 7: 12,260,663 I6K probably benign Het
Other mutations in Pik3r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03029:Pik3r3 APN 4 116299801 missense probably damaging 1.00
R0126:Pik3r3 UTSW 4 116256268 missense probably damaging 0.98
R1667:Pik3r3 UTSW 4 116222317 missense probably damaging 0.99
R2850:Pik3r3 UTSW 4 116270784 splice site probably benign
R4974:Pik3r3 UTSW 4 116286191 missense probably benign 0.01
R5871:Pik3r3 UTSW 4 116286158 nonsense probably null
R5908:Pik3r3 UTSW 4 116272758 missense probably benign 0.02
R6562:Pik3r3 UTSW 4 116299809 nonsense probably null
R7378:Pik3r3 UTSW 4 116270830 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 On2019-06-07