Incidental Mutation 'R3876:Pik3r1'
ID 276866
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 041606-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3876 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 101817269-101904725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101821465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 430 (H430Y)
Ref Sequence ENSEMBL: ENSMUSP00000047004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035532] [ENSMUST00000055518] [ENSMUST00000185795] [ENSMUST00000187009]
AlphaFold P26450
Predicted Effect probably benign
Transcript: ENSMUST00000035532
AA Change: H430Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: H430Y

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
AA Change: H700Y

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: H700Y

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
Meta Mutation Damage Score 0.0992 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,828,857 (GRCm39) R215* probably null Het
Brinp2 C A 1: 158,074,416 (GRCm39) L568F probably damaging Het
Brip1 T C 11: 86,043,616 (GRCm39) Y316C probably damaging Het
Cdk5rap2 ATGTG ATG 4: 70,208,214 (GRCm39) probably null Het
Cfap69 G T 5: 5,634,645 (GRCm39) probably benign Het
Chrnb4 T C 9: 54,951,182 (GRCm39) E27G probably damaging Het
Clec14a A G 12: 58,315,430 (GRCm39) V64A possibly damaging Het
Crygs A G 16: 22,625,262 (GRCm39) Y60H probably damaging Het
Dpp10 T A 1: 123,281,216 (GRCm39) Q611L probably damaging Het
Entpd1 T C 19: 40,725,264 (GRCm39) L450P probably damaging Het
Eogt G A 6: 97,097,151 (GRCm39) S317L probably damaging Het
Exosc10 T A 4: 148,657,376 (GRCm39) S584T probably benign Het
Fam184a C T 10: 53,575,157 (GRCm39) V151I probably damaging Het
Fbxo43 A G 15: 36,152,258 (GRCm39) V517A probably damaging Het
Flii T C 11: 60,610,698 (GRCm39) T533A possibly damaging Het
Frmpd1 T G 4: 45,284,093 (GRCm39) H971Q probably benign Het
Gata3 A T 2: 9,867,954 (GRCm39) N333K probably damaging Het
Hectd1 A G 12: 51,815,513 (GRCm39) S1525P probably damaging Het
Ibtk A G 9: 85,600,479 (GRCm39) I816T probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt34 T C 11: 99,931,791 (GRCm39) T143A probably benign Het
Lipn G T 19: 34,046,828 (GRCm39) M43I probably benign Het
Lrp1b A G 2: 41,335,206 (GRCm39) C779R probably damaging Het
Mios G A 6: 8,233,189 (GRCm39) R779Q probably damaging Het
Mme A T 3: 63,269,480 (GRCm39) probably benign Het
Ncstn A G 1: 171,897,640 (GRCm39) S418P probably benign Het
Oprk1 T A 1: 5,672,884 (GRCm39) C340* probably null Het
Or10d1c T A 9: 38,894,166 (GRCm39) Y58F probably damaging Het
Or4c29 T C 2: 88,739,952 (GRCm39) T262A possibly damaging Het
Or4k39 T C 2: 111,238,967 (GRCm39) V69A possibly damaging Het
Or6c210 C T 10: 129,496,143 (GRCm39) P156L probably benign Het
Or6z7 G A 7: 6,484,131 (GRCm39) A8V probably benign Het
Pald1 T A 10: 61,183,266 (GRCm39) N323Y probably damaging Het
Pcdhac1 C A 18: 37,224,945 (GRCm39) A586E probably damaging Het
Pcnx2 C T 8: 126,614,897 (GRCm39) A185T probably benign Het
Polr3b G A 10: 84,556,382 (GRCm39) probably null Het
Prl8a6 A T 13: 27,617,015 (GRCm39) L225* probably null Het
Psme4 T C 11: 30,806,068 (GRCm39) S89P probably damaging Het
Pygl G A 12: 70,248,113 (GRCm39) T250I probably damaging Het
Rgs13 T A 1: 144,016,528 (GRCm39) K72* probably null Het
Ryr2 T A 13: 11,603,045 (GRCm39) I4514F probably damaging Het
Septin3 A T 15: 82,170,002 (GRCm39) D32V probably damaging Het
Sfrp2 C T 3: 83,674,335 (GRCm39) P163S possibly damaging Het
Spata31 A G 13: 65,068,745 (GRCm39) T298A probably benign Het
Stxbp2 T C 8: 3,683,369 (GRCm39) probably null Het
Syne1 A T 10: 5,002,345 (GRCm39) M282K possibly damaging Het
Timd2 T C 11: 46,561,847 (GRCm39) probably null Het
Tlr11 G A 14: 50,600,611 (GRCm39) V866I probably benign Het
Trappc10 T C 10: 78,056,020 (GRCm39) probably null Het
Zfp512b AG AGG 2: 181,230,556 (GRCm39) probably null 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
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'- TCCAAGAAAGCTCTAGTCCCATG -3'
(R):5'- ACCCTGCAGCATTCCAGATC -3'

Sequencing Primer
(F):5'- GAAAGCTCTAGTCCCATGTGCAG -3'
(R):5'- TGCAGCATTCCAGATCATCTG -3'
Posted On 2015-04-06