Incidental Mutation 'R9146:Pik3r1'
| ID |
731296 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 101825136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140256
(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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
probably benign
Transcript: ENSMUST00000185795
|
| SMART Domains |
Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
10 |
93 |
6.5e-30 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
G |
A |
5: 137,289,077 (GRCm39) |
G261D |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,561,291 (GRCm39) |
T5408S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,359,200 (GRCm39) |
N362D |
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,298,963 (GRCm39) |
N956S |
probably benign |
Het |
| Alg10b |
A |
G |
15: 90,112,401 (GRCm39) |
E415G |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,005 (GRCm39) |
D280G |
probably benign |
Het |
| Catsperg1 |
G |
C |
7: 28,909,912 (GRCm39) |
P72R |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,377,665 (GRCm39) |
E1565G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,048,832 (GRCm39) |
Y2290F |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,344 (GRCm39) |
H230L |
|
Het |
| Efhb |
A |
G |
17: 53,769,644 (GRCm39) |
S222P |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,581,331 (GRCm39) |
T465M |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,849,635 (GRCm39) |
Y1431* |
probably null |
Het |
| Gm10912 |
T |
C |
2: 103,897,053 (GRCm39) |
V64A |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,273,206 (GRCm39) |
S197P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,571 (GRCm39) |
Y452C |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,097 (GRCm39) |
I3364T |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,474,141 (GRCm39) |
T4767M |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,736,101 (GRCm39) |
D595G |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,329,739 (GRCm39) |
T53K |
unknown |
Het |
| Kirrel1 |
T |
C |
3: 87,003,015 (GRCm39) |
D126G |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,810,305 (GRCm39) |
D822E |
probably damaging |
Het |
| Kiz |
C |
T |
2: 146,705,740 (GRCm39) |
T100M |
probably benign |
Het |
| Kmt2a |
T |
A |
9: 44,725,938 (GRCm39) |
K3663* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,907,370 (GRCm39) |
I238F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,405 (GRCm39) |
P471S |
|
Het |
| Lca5l |
T |
C |
16: 95,960,998 (GRCm39) |
E493G |
probably damaging |
Het |
| Lrrc2 |
C |
T |
9: 110,808,582 (GRCm39) |
T273I |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,303 (GRCm39) |
S31P |
probably benign |
Het |
| Mmp1a |
A |
G |
9: 7,464,997 (GRCm39) |
D77G |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,200 (GRCm39) |
C290* |
probably null |
Het |
| Nfe2l3 |
G |
T |
6: 51,410,172 (GRCm39) |
A96S |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,011,854 (GRCm39) |
D624G |
probably damaging |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,452 (GRCm39) |
I128F |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,392 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,334,351 (GRCm39) |
A222T |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
| Plcb1 |
T |
A |
2: 135,182,615 (GRCm39) |
Y642N |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,184,252 (GRCm39) |
H1538L |
probably benign |
Het |
| Raph1 |
A |
G |
1: 60,558,137 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,334,499 (GRCm39) |
F3237S |
|
Het |
| Sctr |
A |
G |
1: 119,982,010 (GRCm39) |
D286G |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,920,529 (GRCm39) |
S202P |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,328,502 (GRCm39) |
G356E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,784,492 (GRCm39) |
S629R |
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,317,847 (GRCm39) |
V58A |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,831,588 (GRCm39) |
D463V |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,389,745 (GRCm39) |
V259A |
possibly damaging |
Het |
| Tmem248 |
A |
G |
5: 130,260,851 (GRCm39) |
T139A |
probably benign |
Het |
| Trip12 |
G |
T |
1: 84,771,881 (GRCm39) |
A89E |
possibly damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,647 (GRCm39) |
V96I |
probably benign |
Het |
| Vmn2r79 |
C |
T |
7: 86,650,681 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp831 |
C |
A |
2: 174,487,461 (GRCm39) |
T712N |
possibly damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,033 (GRCm39) |
H577Q |
possibly damaging |
Het |
| Zscan4-ps2 |
T |
G |
7: 11,251,679 (GRCm39) |
S238R |
possibly 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 |
|
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 |
|
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 |
|
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'- CTAGGCAGAAGTAACCAGTCG -3'
(R):5'- ACCATATTGACTATGCCATTAGGG -3'
Sequencing Primer
(F):5'- GTAACCAGTCGGAAATTAACGTTCC -3'
(R):5'- ACTATGCCATTAGGGATTGTTATTTG -3'
|
| Posted On |
2022-10-17 |
Incidental Mutation