Incidental Mutation 'R9315:Pik3r1'
| ID |
705857 |
| 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 # |
R9315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 101894166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055518
AA Change: M1T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: M1T
| 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 |
|
| Meta Mutation Damage Score |
0.9736 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,265,576 (GRCm39) |
R153H |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,398,360 (GRCm39) |
S1730L |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,287 (GRCm39) |
E509G |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,213,670 (GRCm39) |
A30S |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,263,214 (GRCm39) |
S109P |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,195,581 (GRCm39) |
L170Q |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,540,544 (GRCm39) |
I1334N |
unknown |
Het |
| Col6a3 |
A |
G |
1: 90,738,979 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
A |
G |
4: 96,420,035 (GRCm39) |
I232T |
probably benign |
Het |
| Ddx52 |
T |
A |
11: 83,837,033 (GRCm39) |
S175T |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,341 (GRCm39) |
S434F |
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,096,339 (GRCm39) |
V211A |
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,319,188 (GRCm39) |
K371N |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,285,548 (GRCm39) |
N429S |
probably benign |
Het |
| Ifng |
A |
T |
10: 118,278,588 (GRCm39) |
D83V |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,156,840 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Ldlr |
T |
A |
9: 21,644,782 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,760,911 (GRCm39) |
V4992A |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,248,969 (GRCm39) |
C168* |
probably null |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,850,730 (GRCm39) |
V742D |
possibly damaging |
Het |
| Mxd1 |
T |
C |
6: 86,627,926 (GRCm39) |
D204G |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,811 (GRCm39) |
A1322D |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,869 (GRCm39) |
I45N |
probably benign |
Het |
| Or13a22 |
T |
C |
7: 140,072,935 (GRCm39) |
I128T |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,495 (GRCm39) |
C167* |
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,270 (GRCm39) |
D172G |
probably benign |
Het |
| Paip1 |
A |
G |
13: 119,586,516 (GRCm39) |
E271G |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,119 (GRCm39) |
N444S |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,488,921 (GRCm39) |
T705A |
possibly damaging |
Het |
| Rab33b |
T |
G |
3: 51,401,000 (GRCm39) |
V158G |
probably damaging |
Het |
| Rab6a |
A |
G |
7: 100,281,017 (GRCm39) |
I120V |
probably benign |
Het |
| Radil |
G |
T |
5: 142,474,254 (GRCm39) |
H731N |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,812,028 (GRCm39) |
S146P |
probably damaging |
Het |
| Rrn3 |
T |
C |
16: 13,606,690 (GRCm39) |
Y99H |
probably benign |
Het |
| Saxo4 |
T |
A |
19: 10,458,767 (GRCm39) |
S88C |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,283,553 (GRCm39) |
T1504K |
possibly damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,381,046 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,403,644 (GRCm39) |
I386V |
probably null |
Het |
| Tns1 |
A |
G |
1: 73,980,141 (GRCm39) |
C11R |
|
Het |
| Wdr11 |
A |
G |
7: 129,208,264 (GRCm39) |
T340A |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,358,082 (GRCm39) |
S724P |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,713,397 (GRCm39) |
K221R |
probably benign |
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 |
|
R9146:Pik3r1
|
UTSW |
13 |
101,825,136 (GRCm39) |
splice site |
probably benign |
|
|
R9678:Pik3r1
|
UTSW |
13 |
101,839,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGGTTTCATTGTAGCC -3'
(R):5'- GTCTTCAGTCACCCCGTTGATG -3'
Sequencing Primer
(F):5'- GGTTTCATTGTAGCCATTTAACCAGC -3'
(R):5'- CCCCGTTGATGGAGGACAGATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation