Incidental Mutation 'R4422:Pik3r1'
ID 327168
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 041695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4422 (G1)
Quality Score 195
Status Validated
Chromosome 13
Chromosomal Location 101817269-101904725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101830892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 3 (N3T)
Ref Sequence ENSEMBL: ENSMUSP00000140312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035532] [ENSMUST00000055518] [ENSMUST00000185795] [ENSMUST00000187009]
AlphaFold P26450
Predicted Effect probably benign
Transcript: ENSMUST00000035532
SMART Domains Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417

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 benign
Transcript: ENSMUST00000055518
SMART Domains Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417

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
AA Change: N3T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417
AA Change: N3T

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 0.1025 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (67/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,895,412 (GRCm39) S1168P probably benign Het
Adgrf2 T C 17: 43,024,046 (GRCm39) M142V probably benign Het
Akna G T 4: 63,305,330 (GRCm39) Q479K possibly damaging Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
AW551984 A T 9: 39,511,373 (GRCm39) C111S probably null Het
Bak1 C A 17: 27,240,298 (GRCm39) G130W probably damaging Het
Bank1 T A 3: 135,788,972 (GRCm39) Q441L probably damaging Het
C030034I22Rik T C 17: 69,725,153 (GRCm39) noncoding transcript Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cct7 A G 6: 85,444,127 (GRCm39) R355G probably damaging Het
Cd19 C T 7: 126,012,578 (GRCm39) V272I probably benign Het
Cenpf A G 1: 189,390,547 (GRCm39) L1095S probably damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Chrm3 A T 13: 9,928,591 (GRCm39) Y148* probably null Het
Chrnb3 T C 8: 27,886,761 (GRCm39) V445A possibly damaging Het
Col4a4 T A 1: 82,467,559 (GRCm39) M852L unknown Het
Dhx29 T C 13: 113,083,781 (GRCm39) L612P probably damaging Het
Dlgap2 T C 8: 14,793,463 (GRCm39) probably null Het
Dnah17 T C 11: 117,972,799 (GRCm39) T2045A possibly damaging Het
Dync1li1 A G 9: 114,538,377 (GRCm39) T245A probably damaging Het
Epha4 T C 1: 77,488,354 (GRCm39) E42G probably damaging Het
Fam120b C A 17: 15,622,445 (GRCm39) T141K probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gcnt2 T G 13: 41,014,001 (GRCm39) Y57* probably null Het
Gm5409 C T 6: 41,396,519 (GRCm39) noncoding transcript Het
Hip1r A G 5: 124,135,069 (GRCm39) K402E possibly damaging Het
Hlcs G A 16: 93,939,819 (GRCm39) P506L possibly damaging Het
Itih4 T A 14: 30,611,821 (GRCm39) F142I probably damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lamb2 A G 9: 108,360,754 (GRCm39) D518G probably damaging Het
Ldlr G A 9: 21,649,248 (GRCm39) C341Y probably damaging Het
Lsr G T 7: 30,665,422 (GRCm39) N177K probably benign Het
Macf1 G A 4: 123,359,839 (GRCm39) S1815F probably damaging Het
Mms22l T C 4: 24,503,008 (GRCm39) S95P probably damaging Het
Mon2 A G 10: 122,878,887 (GRCm39) L218P probably damaging Het
Nlrp4f C T 13: 65,332,776 (GRCm39) probably null Het
Nrde2 G A 12: 100,112,286 (GRCm39) Q137* probably null Het
Or12e10 C A 2: 87,640,989 (GRCm39) T275K probably damaging Het
Or51l14 G T 7: 103,101,450 (GRCm39) R302L probably damaging Het
Or6z7 G T 7: 6,484,037 (GRCm39) Y39* probably null Het
Phf24 G A 4: 42,934,817 (GRCm39) C151Y probably damaging Het
Plcb2 T C 2: 118,542,484 (GRCm39) K821E probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Prelid2 T C 18: 42,045,461 (GRCm39) T150A probably benign Het
Psg21 A G 7: 18,381,257 (GRCm39) S429P probably damaging Het
Reg4 T C 3: 98,140,360 (GRCm39) Y114H possibly damaging Het
Rsbn1l G T 5: 21,101,544 (GRCm39) H665Q probably damaging Het
Rspo2 T C 15: 43,033,150 (GRCm39) N24S probably benign Het
Ryr2 G T 13: 11,731,952 (GRCm39) C2329* probably null Het
Skint2 T A 4: 112,441,785 (GRCm39) probably benign Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tmem53 T C 4: 117,123,149 (GRCm39) Y37H probably damaging Het
Tmem59l G A 8: 70,938,749 (GRCm39) R111W probably damaging Het
Tnks2 G A 19: 36,823,053 (GRCm39) V107I probably damaging Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Tubgcp4 T A 2: 121,019,882 (GRCm39) L404* probably null Het
Vmn2r86 T C 10: 130,288,845 (GRCm39) I219V possibly damaging Het
Vsig10 T C 5: 117,462,986 (GRCm39) S71P probably benign Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zfp871 T A 17: 32,993,808 (GRCm39) S437C probably benign Het
Zfp871 C A 17: 32,993,807 (GRCm39) S456I probably benign Het
Zfp873 A G 10: 81,896,708 (GRCm39) T480A 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
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
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
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'- TTTTCCACGGTCCCTGCAAG -3'
(R):5'- TTTCTTCCCCGGTGCAGTAG -3'

Sequencing Primer
(F):5'- GGAGTGTCTCCCTAATCGC -3'
(R):5'- GGACCACTTGGTAGAAGAA -3'
Posted On 2015-07-07