Incidental Mutation 'R0891:Pik3r1'
| ID |
83513 |
| 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 |
039054-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101837974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 299
(N299K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055518
AA Change: N299K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: N299K
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000185701
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
| Validation Efficiency |
100% (41/41) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,156 (GRCm39) |
N567K |
possibly damaging |
Het |
| Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
| Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,982,906 (GRCm39) |
N139S |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
| Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
| Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
| Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
A |
3: 89,260,584 (GRCm39) |
T560I |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,996,337 (GRCm39) |
I50N |
probably damaging |
Het |
| Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
| Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
| Pip5k1a |
A |
G |
3: 94,972,831 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
T |
A |
1: 32,585,442 (GRCm39) |
H156L |
possibly damaging |
Het |
| Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
probably damaging |
Het |
|
| Other mutations in Pik3r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- ATTCAGCAGCCCGAAGCCTAAG -3'
(R):5'- TGGCCCTAAATTGATGCCTCACAG -3'
Sequencing Primer
(F):5'- gtcaaggctaacctctgctac -3'
(R):5'- TTGATGCCTCACAGATGCAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation