Incidental Mutation 'R0751:Pik3r1'
ID 70354
Institutional Source Beutler Lab
Gene Symbol Pik3r1
Ensembl Gene ENSMUSG00000041417
Gene Name phosphoinositide-3-kinase regulatory subunit 1
Synonyms p85alpha, p55alpha, PI3K, p50alpha
MMRRC Submission 038931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0751 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 101817269-101904725 bp(-) (GRCm39)
Type of Mutation splice site (1224 bp from exon)
DNA Base Change (assembly) T to C at 101822866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035532] [ENSMUST00000055518] [ENSMUST00000185795] [ENSMUST00000187009]
AlphaFold P26450
Predicted Effect probably benign
Transcript: ENSMUST00000035532
AA Change: D342G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: D342G

DomainStartEndE-ValueType
low complexity region 34 44 N/A INTRINSIC
SH2 61 144 9.96e-28 SMART
low complexity region 263 278 N/A INTRINSIC
SH2 352 434 7.33e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000055518
AA Change: D612G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: D612G

DomainStartEndE-ValueType
SH3 6 78 2.81e-11 SMART
low complexity region 79 99 N/A INTRINSIC
RhoGAP 126 298 1.94e-37 SMART
low complexity region 303 314 N/A INTRINSIC
SH2 331 414 9.96e-28 SMART
Pfam:PI3K_P85_iSH2 431 599 7.8e-67 PFAM
SH2 622 704 7.33e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185795
SMART Domains Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
SH2 31 112 1.52e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000187009
SMART Domains Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417

DomainStartEndE-ValueType
SH2 10 93 6.5e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190171
Meta Mutation Damage Score 0.2317 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T A 4: 132,792,707 (GRCm39) M1316K probably benign Het
Alox12 T C 11: 70,137,776 (GRCm39) I455V probably benign Het
Ankrd28 A G 14: 31,486,225 (GRCm39) L89P probably damaging Het
Aqp9 A T 9: 71,045,487 (GRCm39) C41S probably damaging Het
Arhgap17 T C 7: 122,913,913 (GRCm39) Y199C probably damaging Het
Aspm A T 1: 139,384,636 (GRCm39) probably benign Het
Cacfd1 T C 2: 26,908,993 (GRCm39) probably null Het
Cd33 T C 7: 43,181,545 (GRCm39) D205G probably damaging Het
Chadl T C 15: 81,577,258 (GRCm39) S198G probably benign Het
Chtf8 A G 8: 107,613,109 (GRCm39) probably null Het
Clec4a4 G T 6: 122,989,671 (GRCm39) W104L probably benign Het
Clock A T 5: 76,377,208 (GRCm39) I696K possibly damaging Het
Crtc2 T A 3: 90,169,940 (GRCm39) Y445* probably null Het
Dapk1 A T 13: 60,844,112 (GRCm39) I44F probably damaging Het
Dcbld2 T A 16: 58,270,204 (GRCm39) probably null Het
Derl2 T C 11: 70,905,373 (GRCm39) probably null Het
Dnah7c A G 1: 46,505,065 (GRCm39) T154A probably benign Het
Dnmt3b T A 2: 153,516,762 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,554 (GRCm39) S106T probably benign Het
Eftud2 A G 11: 102,730,079 (GRCm39) V897A probably damaging Het
Eif3l T A 15: 78,959,966 (GRCm39) probably null Het
Fbxo33 A C 12: 59,265,878 (GRCm39) F130V probably damaging Het
Ffar3 T A 7: 30,554,529 (GRCm39) N264Y probably damaging Het
Fig4 T C 10: 41,148,978 (GRCm39) D158G probably damaging Het
Fyco1 A G 9: 123,648,218 (GRCm39) F1239L probably damaging Het
Gabra2 A G 5: 71,249,442 (GRCm39) probably benign Het
Gabra6 C A 11: 42,205,844 (GRCm39) R336S probably benign Het
Hkdc1 T C 10: 62,234,452 (GRCm39) D581G probably damaging Het
Ift70a2 C T 2: 75,808,375 (GRCm39) A46T probably damaging Het
Iqgap1 A G 7: 80,375,321 (GRCm39) probably benign Het
Larp4b T C 13: 9,216,345 (GRCm39) probably benign Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Lrrc8a T C 2: 30,146,362 (GRCm39) V392A possibly damaging Het
Mavs A T 2: 131,088,684 (GRCm39) Y496F probably damaging Het
Mpi A T 9: 57,457,897 (GRCm39) S102T probably damaging Het
Mroh9 G A 1: 162,893,693 (GRCm39) R161W possibly damaging Het
Myo1h A T 5: 114,458,747 (GRCm39) S161C probably damaging Het
Napg T G 18: 63,127,409 (GRCm39) H204Q probably benign Het
Nelfcd C A 2: 174,264,807 (GRCm39) A182D probably benign Het
Ntsr2 G T 12: 16,704,031 (GRCm39) K91N probably damaging Het
Obscn A G 11: 58,972,645 (GRCm39) S2134P probably damaging Het
Ogfod2 G A 5: 124,251,539 (GRCm39) probably benign Het
Or13a19 G A 7: 139,903,238 (GRCm39) V209I probably benign Het
Or1e26 G T 11: 73,479,970 (GRCm39) T198K probably benign Het
Pcdha8 T C 18: 37,127,123 (GRCm39) V535A probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pimreg C A 11: 71,933,939 (GRCm39) Q22K probably benign Het
Pld5 A G 1: 175,872,462 (GRCm39) I225T probably damaging Het
Plxnc1 T C 10: 94,667,195 (GRCm39) probably benign Het
Ppip5k2 A T 1: 97,677,377 (GRCm39) C306* probably null Het
Ptprc A G 1: 138,020,668 (GRCm39) Y588H probably damaging Het
Rac2 T G 15: 78,450,145 (GRCm39) D65A possibly damaging Het
Rgl3 A G 9: 21,888,676 (GRCm39) probably null Het
Serpinb1a T C 13: 33,027,199 (GRCm39) K248E probably benign Het
Serpinb9e A C 13: 33,443,757 (GRCm39) E259A probably benign Het
Slc12a4 A T 8: 106,678,532 (GRCm39) V266E probably damaging Het
Slc8b1 A G 5: 120,662,260 (GRCm39) probably benign Het
Spink6 T C 18: 44,204,605 (GRCm39) probably benign Het
Spta1 G A 1: 174,012,256 (GRCm39) R354H probably damaging Het
Ssb T A 2: 69,700,909 (GRCm39) S330T probably benign Het
Stard9 G T 2: 120,527,966 (GRCm39) V1408F probably benign Het
Sumf2 A T 5: 129,878,846 (GRCm39) T61S probably benign Het
Sypl2 T C 3: 108,124,072 (GRCm39) T157A probably damaging Het
Tgfbr3 A T 5: 107,287,749 (GRCm39) D483E probably damaging Het
Tnrc6a A G 7: 122,769,563 (GRCm39) N451S possibly damaging Het
Tradd T C 8: 105,986,403 (GRCm39) E123G probably damaging Het
Trim36 T C 18: 46,329,318 (GRCm39) T41A probably damaging Het
Ttll7 C T 3: 146,645,746 (GRCm39) P535S probably damaging Het
Ubr4 C T 4: 139,164,509 (GRCm39) probably benign Het
Uqcc5 G T 14: 30,810,953 (GRCm39) probably benign Het
Vmn1r195 A G 13: 22,463,181 (GRCm39) Y217C probably damaging Het
Vmn2r63 A C 7: 42,577,459 (GRCm39) F360V probably damaging Het
Vmn2r78 G A 7: 86,603,588 (GRCm39) V589M possibly damaging Het
Vmn2r-ps158 A G 7: 42,696,833 (GRCm39) Y630C probably damaging Het
Vrk2 A G 11: 26,433,331 (GRCm39) probably benign Het
Other mutations in Pik3r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pik3r1 APN 13 101,827,044 (GRCm39) start codon destroyed probably benign
IGL00484:Pik3r1 APN 13 101,838,255 (GRCm39) missense probably benign 0.08
IGL00911:Pik3r1 APN 13 101,894,169 (GRCm39) utr 5 prime probably benign
IGL01620:Pik3r1 APN 13 101,822,728 (GRCm39) missense probably damaging 1.00
IGL01872:Pik3r1 APN 13 101,825,625 (GRCm39) missense probably benign 0.01
IGL02544:Pik3r1 APN 13 101,823,784 (GRCm39) missense probably damaging 1.00
IGL02959:Pik3r1 APN 13 101,894,037 (GRCm39) missense probably benign 0.02
anubis UTSW 13 101,839,284 (GRCm39) nonsense probably null
Astro_boy UTSW 13 101,838,240 (GRCm39) missense probably damaging 1.00
Pennywhistle UTSW 13 101,825,914 (GRCm39) missense probably damaging 0.96
Rocket UTSW 13 101,825,952 (GRCm39) missense probably damaging 1.00
Starburst UTSW 13 101,894,166 (GRCm39) start codon destroyed probably null 0.99
R0635:Pik3r1 UTSW 13 101,893,926 (GRCm39) missense probably benign
R0787:Pik3r1 UTSW 13 101,827,031 (GRCm39) missense probably benign 0.30
R0845:Pik3r1 UTSW 13 101,822,772 (GRCm39) missense probably benign 0.45
R0891:Pik3r1 UTSW 13 101,837,974 (GRCm39) missense probably benign
R1066:Pik3r1 UTSW 13 101,825,171 (GRCm39) missense probably damaging 1.00
R1184:Pik3r1 UTSW 13 101,822,866 (GRCm39) splice site probably null
R1735:Pik3r1 UTSW 13 101,822,882 (GRCm39) missense probably damaging 1.00
R2474:Pik3r1 UTSW 13 101,839,284 (GRCm39) nonsense probably null
R3015:Pik3r1 UTSW 13 101,823,771 (GRCm39) missense probably damaging 1.00
R3419:Pik3r1 UTSW 13 101,828,723 (GRCm39) missense probably benign 0.17
R3876:Pik3r1 UTSW 13 101,821,465 (GRCm39) missense probably benign 0.01
R3964:Pik3r1 UTSW 13 101,825,193 (GRCm39) missense possibly damaging 0.75
R4175:Pik3r1 UTSW 13 101,838,241 (GRCm39) missense probably benign 0.25
R4175:Pik3r1 UTSW 13 101,838,240 (GRCm39) missense probably damaging 1.00
R4422:Pik3r1 UTSW 13 101,830,892 (GRCm39) missense probably benign
R4890:Pik3r1 UTSW 13 101,894,118 (GRCm39) missense probably damaging 1.00
R5038:Pik3r1 UTSW 13 101,825,952 (GRCm39) missense probably damaging 1.00
R5117:Pik3r1 UTSW 13 101,828,744 (GRCm39) missense probably benign
R6066:Pik3r1 UTSW 13 101,822,828 (GRCm39) missense possibly damaging 0.72
R6254:Pik3r1 UTSW 13 101,825,914 (GRCm39) missense possibly damaging 0.89
R7421:Pik3r1 UTSW 13 101,825,644 (GRCm39) missense probably damaging 1.00
R7507:Pik3r1 UTSW 13 101,845,490 (GRCm39) missense probably benign 0.00
R7538:Pik3r1 UTSW 13 101,825,914 (GRCm39) missense probably damaging 0.96
R7605:Pik3r1 UTSW 13 101,839,346 (GRCm39) missense probably benign
R7739:Pik3r1 UTSW 13 101,846,205 (GRCm39) missense probably benign 0.01
R8695:Pik3r1 UTSW 13 101,894,062 (GRCm39) missense probably benign 0.40
R9146:Pik3r1 UTSW 13 101,825,136 (GRCm39) splice site probably benign
R9315:Pik3r1 UTSW 13 101,894,166 (GRCm39) start codon destroyed probably null 0.99
R9678:Pik3r1 UTSW 13 101,839,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACACTACGGAGCAGGCATAGCAG -3'
(R):5'- CCGTAATGATGTCCCCGAACATCAG -3'

Sequencing Primer
(F):5'- GCATAGCAGCCCTGCTTAC -3'
(R):5'- acatcaggaaaaaaatccccac -3'
Posted On 2013-09-30