Incidental Mutation 'R1831:Pik3r6'
ID 207346
Institutional Source Beutler Lab
Gene Symbol Pik3r6
Ensembl Gene ENSMUSG00000046207
Gene Name phosphoinositide-3-kinase regulatory subunit 5
Synonyms p87PIKAP, p84 Pikap
MMRRC Submission 039858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1831 (G1)
Quality Score 144
Status Not validated
Chromosome 11
Chromosomal Location 68393845-68443524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68434860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 594 (M594K)
Ref Sequence ENSEMBL: ENSMUSP00000052522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060441] [ENSMUST00000102613]
AlphaFold Q3U6Q4
Predicted Effect probably benign
Transcript: ENSMUST00000060441
AA Change: M594K

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: M594K

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 7 306 7.4e-28 PFAM
low complexity region 310 324 N/A INTRINSIC
Pfam:PI3K_1B_p101 394 755 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102613
AA Change: M590K

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: M590K

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 3 335 1.8e-111 PFAM
Pfam:PI3K_1B_p101 332 752 1.6e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153671
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 11. The protein binds to both the catalytic subunit and to G beta-gamma, and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small reductions in lymphocyte and granulocyte and a slight increase in neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,627,255 (GRCm39) D77G probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Capn8 G A 1: 182,438,666 (GRCm39) probably null Het
Carmil1 A T 13: 24,348,862 (GRCm39) V15E probably benign Het
Ccdc42 T A 11: 68,481,805 (GRCm39) M133K probably benign Het
Cd5 T C 19: 10,696,933 (GRCm39) D485G probably damaging Het
Cdhr18 A G 14: 13,899,619 (GRCm38) I101T probably damaging Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Cep162 T A 9: 87,088,985 (GRCm39) I966L probably damaging Het
Cklf T C 8: 104,977,687 (GRCm39) F13S probably damaging Het
Csf2rb C T 15: 78,232,453 (GRCm39) P587S probably benign Het
Cyp21a1 A T 17: 35,023,009 (GRCm39) probably benign Het
Cyp26a1 A T 19: 37,689,071 (GRCm39) L335F probably damaging Het
Dcst1 A G 3: 89,260,057 (GRCm39) F596L probably damaging Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dnah6 G A 6: 73,158,780 (GRCm39) R608C possibly damaging Het
Dnajb5 A T 4: 42,957,333 (GRCm39) T311S probably benign Het
Dthd1 A G 5: 62,984,572 (GRCm39) T426A probably benign Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Efemp1 A T 11: 28,871,442 (GRCm39) D347V possibly damaging Het
Ephb4 T A 5: 137,352,677 (GRCm39) Y87N probably damaging Het
Ern1 A T 11: 106,290,668 (GRCm39) probably null Het
Fam184a A T 10: 53,523,180 (GRCm39) D164E probably damaging Het
Fkbp10 A G 11: 100,314,045 (GRCm39) E351G probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Frem1 A G 4: 82,939,074 (GRCm39) S3P possibly damaging Het
Gpr3 C T 4: 132,938,454 (GRCm39) A73T possibly damaging Het
Gprc6a T C 10: 51,491,902 (GRCm39) T616A probably benign Het
Gtf3c2 G T 5: 31,325,713 (GRCm39) Q452K probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hacd2 T C 16: 34,922,434 (GRCm39) Y208H probably damaging Het
Hid1 C T 11: 115,239,729 (GRCm39) G734R probably damaging Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Itga11 T A 9: 62,689,300 (GRCm39) L1155Q probably damaging Het
Kmt2d A G 15: 98,753,224 (GRCm39) S157P probably damaging Het
Lamb3 A G 1: 193,017,187 (GRCm39) T793A probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ltn1 C T 16: 87,197,034 (GRCm39) S1213N possibly damaging Het
Meak7 T C 8: 120,497,992 (GRCm39) M171V probably null Het
Med1 T C 11: 98,047,437 (GRCm39) probably benign Het
Megf6 C T 4: 154,355,134 (GRCm39) T1483M probably benign Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Ndst3 T A 3: 123,395,127 (GRCm39) H501L probably benign Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nmbr C A 10: 14,642,609 (GRCm39) T56K probably benign Het
Nxpe2 T A 9: 48,237,452 (GRCm39) M268L probably benign Het
Oasl2 A G 5: 115,039,367 (GRCm39) Y185C probably benign Het
Ogdhl T A 14: 32,059,484 (GRCm39) V377E probably damaging Het
Or11g1 T A 14: 50,651,658 (GRCm39) probably null Het
Or14j4 G A 17: 37,920,730 (GRCm39) S304L possibly damaging Het
Ovgp1 A G 3: 105,892,384 (GRCm39) R346G probably benign Het
Parp14 T A 16: 35,678,958 (GRCm39) N337Y possibly damaging Het
Pask A C 1: 93,248,491 (GRCm39) probably null Het
Pax3 G T 1: 78,108,977 (GRCm39) T227K probably damaging Het
Pms1 A G 1: 53,246,370 (GRCm39) F390L probably benign Het
Polg G A 7: 79,109,518 (GRCm39) T433I probably benign Het
Prex1 T C 2: 166,427,021 (GRCm39) Y898C probably damaging Het
Ranbp2 T A 10: 58,315,044 (GRCm39) C1921* probably null Het
Rif1 T A 2: 51,968,507 (GRCm39) L230* probably null Het
Rnf148 A G 6: 23,654,772 (GRCm39) F75L probably damaging Het
Rps18-ps6 A G 13: 97,897,053 (GRCm39) V15A probably benign Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sirt1 T C 10: 63,156,425 (GRCm39) D735G probably benign Het
Spag5 T A 11: 78,205,082 (GRCm39) N622K probably benign Het
Sspo T G 6: 48,466,720 (GRCm39) C3935W probably damaging Het
Strbp A G 2: 37,515,277 (GRCm39) S250P possibly damaging Het
Tgfbr2 T C 9: 115,919,604 (GRCm39) T541A possibly damaging Het
Thada A C 17: 84,538,542 (GRCm39) S1489A probably damaging Het
Tiam1 A T 16: 89,657,182 (GRCm39) S685T probably benign Het
Tpsb2 T A 17: 25,585,494 (GRCm39) probably null Het
Trip4 C A 9: 65,765,622 (GRCm39) G359V probably damaging Het
Tsr1 T C 11: 74,791,182 (GRCm39) F254L probably benign Het
Vmn1r120 T C 7: 20,787,556 (GRCm39) K52E probably benign Het
Vmn1r29 C A 6: 58,284,692 (GRCm39) Y137* probably null Het
Vmn2r52 T C 7: 9,893,415 (GRCm39) K575E probably damaging Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C probably damaging Het
Other mutations in Pik3r6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Pik3r6 APN 11 68,425,077 (GRCm39) missense probably damaging 0.98
IGL00913:Pik3r6 APN 11 68,442,147 (GRCm39) missense probably damaging 1.00
IGL00984:Pik3r6 APN 11 68,424,445 (GRCm39) missense probably benign 0.39
IGL01110:Pik3r6 APN 11 68,419,652 (GRCm39) critical splice donor site probably null
IGL01116:Pik3r6 APN 11 68,422,276 (GRCm39) missense probably benign 0.01
IGL02839:Pik3r6 APN 11 68,417,238 (GRCm39) missense probably damaging 1.00
PIT4142001:Pik3r6 UTSW 11 68,417,931 (GRCm39) missense probably damaging 1.00
R0044:Pik3r6 UTSW 11 68,435,576 (GRCm39) missense probably benign 0.02
R0062:Pik3r6 UTSW 11 68,419,635 (GRCm39) missense probably damaging 1.00
R0062:Pik3r6 UTSW 11 68,419,635 (GRCm39) missense probably damaging 1.00
R0266:Pik3r6 UTSW 11 68,417,234 (GRCm39) nonsense probably null
R0454:Pik3r6 UTSW 11 68,419,608 (GRCm39) missense possibly damaging 0.88
R0906:Pik3r6 UTSW 11 68,426,927 (GRCm39) splice site probably benign
R1119:Pik3r6 UTSW 11 68,436,698 (GRCm39) missense probably benign 0.05
R1440:Pik3r6 UTSW 11 68,422,271 (GRCm39) missense possibly damaging 0.91
R1664:Pik3r6 UTSW 11 68,426,932 (GRCm39) missense probably benign
R2144:Pik3r6 UTSW 11 68,434,437 (GRCm39) nonsense probably null
R4013:Pik3r6 UTSW 11 68,424,347 (GRCm39) missense possibly damaging 0.85
R4754:Pik3r6 UTSW 11 68,435,601 (GRCm39) missense probably damaging 1.00
R4770:Pik3r6 UTSW 11 68,420,720 (GRCm39) missense probably damaging 1.00
R4860:Pik3r6 UTSW 11 68,434,879 (GRCm39) splice site probably benign
R4974:Pik3r6 UTSW 11 68,430,771 (GRCm39) missense probably damaging 1.00
R5033:Pik3r6 UTSW 11 68,424,294 (GRCm39) nonsense probably null
R5787:Pik3r6 UTSW 11 68,430,753 (GRCm39) missense possibly damaging 0.54
R5918:Pik3r6 UTSW 11 68,416,497 (GRCm39) nonsense probably null
R6164:Pik3r6 UTSW 11 68,442,799 (GRCm39) missense probably benign 0.00
R6192:Pik3r6 UTSW 11 68,434,455 (GRCm39) missense probably damaging 1.00
R6440:Pik3r6 UTSW 11 68,424,522 (GRCm39) missense probably benign 0.09
R7699:Pik3r6 UTSW 11 68,419,389 (GRCm39) missense probably damaging 1.00
R7700:Pik3r6 UTSW 11 68,419,389 (GRCm39) missense probably damaging 1.00
R7922:Pik3r6 UTSW 11 68,424,701 (GRCm39) missense probably benign 0.00
R7964:Pik3r6 UTSW 11 68,424,565 (GRCm39) missense probably benign 0.01
R8473:Pik3r6 UTSW 11 68,417,207 (GRCm39) missense probably benign 0.02
R8515:Pik3r6 UTSW 11 68,430,783 (GRCm39) missense probably damaging 1.00
R8883:Pik3r6 UTSW 11 68,424,468 (GRCm39) missense probably benign
R9545:Pik3r6 UTSW 11 68,422,365 (GRCm39) missense probably damaging 1.00
R9623:Pik3r6 UTSW 11 68,442,159 (GRCm39) missense possibly damaging 0.55
R9762:Pik3r6 UTSW 11 68,424,358 (GRCm39) nonsense probably null
W0251:Pik3r6 UTSW 11 68,424,697 (GRCm39) missense probably benign 0.01
Z1088:Pik3r6 UTSW 11 68,416,428 (GRCm39) missense probably damaging 0.98
Z1176:Pik3r6 UTSW 11 68,435,591 (GRCm39) missense probably benign 0.12
Z1176:Pik3r6 UTSW 11 68,411,026 (GRCm39) start gained probably benign
Z1177:Pik3r6 UTSW 11 68,442,053 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCAGACTGAAAGGCCATCTTC -3'
(R):5'- TGCCTCCTTGTCTACATGTAAGG -3'

Sequencing Primer
(F):5'- CTCAGATGTTGCCTCTCCATCCAG -3'
(R):5'- TACACCATCGTTGCAGATTGC -3'
Posted On 2014-06-23