Incidental Mutation 'IGL00484:Pik3r1'
| ID |
13015 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pik3r1
|
| Ensembl Gene |
ENSMUSG00000041417 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 1 |
| Synonyms |
p85alpha, p55alpha, PI3K, p50alpha |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 101838255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 267
(I267S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055518
AA Change: I267S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: I267S
| 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
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
A |
G |
7: 139,455,860 (GRCm39) |
Q496R |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,416,220 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,504,328 (GRCm39) |
K330R |
probably benign |
Het |
| Anln |
A |
T |
9: 22,272,120 (GRCm39) |
Y666* |
probably null |
Het |
| Atp1a2 |
A |
G |
1: 172,103,569 (GRCm39) |
W984R |
probably damaging |
Het |
| Atp8b3 |
G |
T |
10: 80,361,998 (GRCm39) |
|
probably benign |
Het |
| Casc3 |
A |
G |
11: 98,714,028 (GRCm39) |
E420G |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,833,249 (GRCm39) |
D1724N |
probably benign |
Het |
| Dhx15 |
T |
G |
5: 52,324,154 (GRCm39) |
E379D |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,748,260 (GRCm39) |
|
probably benign |
Het |
| Exph5 |
C |
T |
9: 53,288,006 (GRCm39) |
Q1696* |
probably null |
Het |
| Fkbp6 |
C |
A |
5: 135,368,802 (GRCm39) |
A213S |
possibly damaging |
Het |
| Fndc4 |
A |
G |
5: 31,450,840 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,169 (GRCm39) |
|
probably null |
Het |
| H2ac22 |
G |
T |
13: 21,971,091 (GRCm39) |
R100S |
probably benign |
Het |
| Hapstr1 |
T |
C |
16: 8,649,175 (GRCm39) |
|
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,329 (GRCm39) |
T97I |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,297,132 (GRCm39) |
S407G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,873 (GRCm39) |
Y2231C |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,884,188 (GRCm39) |
S2999T |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,335,314 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,867 (GRCm39) |
V972A |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,128 (GRCm39) |
S1725R |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,638,272 (GRCm39) |
V396A |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,191,737 (GRCm39) |
Q1074R |
probably damaging |
Het |
| Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
| Peli1 |
T |
A |
11: 21,096,952 (GRCm39) |
V114E |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,487,482 (GRCm39) |
|
probably benign |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,816 (GRCm39) |
I1493T |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Pramel28 |
G |
A |
4: 143,693,184 (GRCm39) |
|
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,091 (GRCm39) |
I6V |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,215,220 (GRCm38) |
V1069A |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,001,745 (GRCm39) |
|
probably null |
Het |
| Slc36a2 |
A |
T |
11: 55,053,614 (GRCm39) |
Y341* |
probably null |
Het |
| Snapc3 |
A |
G |
4: 83,354,633 (GRCm39) |
I215V |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,492 (GRCm39) |
S1475T |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,141 (GRCm39) |
D414E |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,623,520 (GRCm39) |
T468A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,213,105 (GRCm39) |
T310A |
probably benign |
Het |
| Tgfbr2 |
T |
A |
9: 115,987,357 (GRCm39) |
I51F |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,851,570 (GRCm39) |
C546* |
probably null |
Het |
| Ttbk2 |
C |
T |
2: 120,604,367 (GRCm39) |
W210* |
probably null |
Het |
| Upk1b |
T |
G |
16: 38,600,378 (GRCm39) |
N201H |
possibly damaging |
Het |
| Uqcc5 |
T |
A |
14: 30,810,879 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,514,710 (GRCm39) |
T3180S |
probably benign |
Het |
| Vps13d |
T |
G |
4: 144,853,145 (GRCm39) |
Q2323P |
probably benign |
Het |
| Zfp810 |
A |
T |
9: 22,189,605 (GRCm39) |
Y434* |
probably null |
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 |
|
|
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 |
|
R9678:Pik3r1
|
UTSW |
13 |
101,839,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation