Incidental Mutation 'R9678:Pik3r1'
| ID |
735785 |
| 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 # |
R9678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101839289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 188
(R188S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055518
AA Change: R188S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: R188S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,750,997 (GRCm39) |
N557S |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,960,763 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
A |
T |
14: 67,937,778 (GRCm39) |
C292S |
unknown |
Het |
| Cdkn1c |
T |
C |
7: 143,014,383 (GRCm39) |
D21G |
probably benign |
Het |
| Clec12a |
C |
A |
6: 129,330,628 (GRCm39) |
T70K |
probably benign |
Het |
| Crnkl1 |
A |
T |
2: 145,761,875 (GRCm39) |
S561T |
probably benign |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
CGGTGC |
CGGTGCGGGTGC |
12: 40,894,396 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGCGCCGG |
12: 40,894,387 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,101,108 (GRCm39) |
D274G |
possibly damaging |
Het |
| Fsd2 |
T |
C |
7: 81,209,449 (GRCm39) |
Y131C |
probably damaging |
Het |
| Gm10153 |
C |
A |
7: 141,743,723 (GRCm39) |
C115F |
unknown |
Het |
| Gm10376 |
A |
T |
14: 42,873,024 (GRCm39) |
M1K |
probably null |
Het |
| Gm10837 |
A |
T |
14: 122,728,438 (GRCm39) |
K105* |
probably null |
Het |
| H3f3a |
A |
G |
1: 180,637,680 (GRCm39) |
|
probably null |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,224 (GRCm39) |
M24L |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,405,952 (GRCm39) |
S157P |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,996,689 (GRCm39) |
N133S |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,900,686 (GRCm39) |
V648A |
possibly damaging |
Het |
| Or1i2 |
C |
T |
10: 78,447,717 (GRCm39) |
G253R |
probably damaging |
Het |
| Or5k17 |
A |
G |
16: 58,746,640 (GRCm39) |
M98T |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,144 (GRCm39) |
T171A |
possibly damaging |
Het |
| Rbsn |
T |
C |
6: 92,188,619 (GRCm39) |
H32R |
probably damaging |
Het |
| Sdk2 |
G |
T |
11: 113,685,789 (GRCm39) |
Y1910* |
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,907,723 (GRCm39) |
I273M |
probably damaging |
Het |
| Sult1a1 |
C |
T |
7: 126,273,536 (GRCm39) |
V132I |
probably benign |
Het |
| Tagln3 |
T |
A |
16: 45,544,605 (GRCm39) |
Y22F |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,386,619 (GRCm39) |
E575G |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,449 (GRCm39) |
V987A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,686,290 (GRCm39) |
V313F |
probably damaging |
Het |
| Trub1 |
A |
T |
19: 57,446,549 (GRCm39) |
N93I |
probably benign |
Het |
| Ugdh |
A |
G |
5: 65,581,470 (GRCm39) |
V60A |
possibly damaging |
Het |
| Ugt2b5 |
A |
C |
5: 87,273,186 (GRCm39) |
D493E |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,615,159 (GRCm39) |
D337E |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,041 (GRCm39) |
L625P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,511 (GRCm39) |
D287G |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,788 (GRCm39) |
E676D |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 75,046,841 (GRCm39) |
L26P |
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 |
|
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 |
|
|
R9315:Pik3r1
|
UTSW |
13 |
101,894,166 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCTACTTATACAGGGCC -3'
(R):5'- GAGGAAAAGCTGTTCTGTCCC -3'
Sequencing Primer
(F):5'- CCTACTTATACAGGGCCGTTGG -3'
(R):5'- GAAAAGCTGTTCTGTCCCAACTTCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation