Incidental Mutation 'R3015:Pik3r1'
ID 257652
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 040536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3015 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 101817269-101904725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101823771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 538 (I538T)
Ref Sequence ENSEMBL: ENSMUSP00000056774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035532] [ENSMUST00000055518] [ENSMUST00000185795] [ENSMUST00000187009]
AlphaFold P26450
Predicted Effect possibly damaging
Transcript: ENSMUST00000035532
AA Change: I268T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: I268T

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: I538T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: I538T

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 benign
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 benign
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 0.1793 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,849,913 (GRCm39) H380R probably benign Het
Aff3 A T 1: 38,249,649 (GRCm39) I486N probably benign Het
Bltp1 T A 3: 36,929,611 (GRCm39) F76Y probably damaging Het
Cfap44 A C 16: 44,230,832 (GRCm39) D271A probably benign Het
Dbndd2 T A 2: 164,330,270 (GRCm39) V34D probably damaging Het
Erc2 T A 14: 27,733,732 (GRCm39) probably null Het
Fcgbp T C 7: 27,774,838 (GRCm39) probably benign Het
Frem3 T C 8: 81,417,402 (GRCm39) S2036P probably damaging Het
Golph3l A G 3: 95,499,024 (GRCm39) probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Ifrd2 G A 9: 107,467,221 (GRCm39) G60S probably null Het
Ints9 T A 14: 65,187,727 (GRCm39) W3R probably benign Het
Jmjd1c A G 10: 66,993,711 (GRCm39) E64G probably damaging Het
Katnip T A 7: 125,465,512 (GRCm39) H1321Q probably damaging Het
Matn3 A C 12: 9,002,217 (GRCm39) Q143P probably damaging Het
Myo18a A T 11: 77,749,846 (GRCm39) probably benign Het
Nop9 T C 14: 55,988,631 (GRCm39) S358P probably benign Het
Pard3b T C 1: 62,384,037 (GRCm39) S801P probably damaging Het
Pax2 T C 19: 44,804,463 (GRCm39) F268L probably damaging Het
Plekha8 T C 6: 54,599,107 (GRCm39) S214P probably benign Het
Ppme1 T C 7: 99,981,084 (GRCm39) H352R probably damaging Het
Ppp1r26 A C 2: 28,342,314 (GRCm39) D648A probably damaging Het
Prom1 C A 5: 44,191,733 (GRCm39) V337F probably damaging Het
Rapgef4 T C 2: 72,028,717 (GRCm39) I378T probably damaging Het
Rnf115 T C 3: 96,661,675 (GRCm39) S43P probably damaging Het
Rnf216 A G 5: 143,061,480 (GRCm39) probably null Het
Scn7a G T 2: 66,530,240 (GRCm39) Q702K probably benign Het
Shisal2b T A 13: 104,994,899 (GRCm39) I83F possibly damaging Het
Slc2a1 T A 4: 118,989,340 (GRCm39) N13K probably damaging Het
Tnr A G 1: 159,715,829 (GRCm39) I864V probably benign Het
Tspyl3 A T 2: 153,066,650 (GRCm39) M196K probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Umod T C 7: 119,071,763 (GRCm39) D326G probably damaging Het
Upf2 A G 2: 5,980,890 (GRCm39) D492G unknown Het
Vash1 A G 12: 86,732,194 (GRCm39) T126A probably benign Het
Vsig10l T A 7: 43,116,881 (GRCm39) I574K possibly damaging 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
R0751:Pik3r1 UTSW 13 101,822,866 (GRCm39) splice site probably null
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
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'- TTAGCCACTGCCAAGTCTTC -3'
(R):5'- CAAGAGGCTCCCGTTATCCTTG -3'

Sequencing Primer
(F):5'- ACTGCCAAGTCTTCGGGTTC -3'
(R):5'- CCCGTTATCCTTGTGACAGAAAGTG -3'
Posted On 2015-01-11