Incidental Mutation 'R1066:Pik3r1'
| ID |
86020 |
| 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 |
039152-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1066 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101825171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 465
(R465S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035532]
[ENSMUST00000055518]
[ENSMUST00000185795]
[ENSMUST00000187009]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035532
AA Change: R195S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: R195S
| 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 damaging
Transcript: ENSMUST00000055518
AA Change: R465S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: R465S
| 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
AA Change: R144S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417
AA Change: R144S
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
10 |
93 |
6.5e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190171
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,867,837 (GRCm39) |
C554S |
probably damaging |
Het |
| Adarb2 |
T |
G |
13: 8,807,359 (GRCm39) |
F720C |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,934,186 (GRCm39) |
D572G |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,185 (GRCm39) |
V223M |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,311,047 (GRCm39) |
|
probably null |
Het |
| Brf2 |
T |
C |
8: 27,613,974 (GRCm39) |
E404G |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,782,288 (GRCm39) |
H380Q |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,712,764 (GRCm39) |
Y389* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,777,361 (GRCm39) |
F1182L |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,338,645 (GRCm39) |
W3169L |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,660,232 (GRCm39) |
E802D |
probably damaging |
Het |
| Dtx4 |
G |
T |
19: 12,478,373 (GRCm39) |
T70K |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,745,833 (GRCm39) |
V57E |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,899 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,463 (GRCm39) |
E701G |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,397 (GRCm39) |
V412A |
probably benign |
Het |
| Mkln1 |
A |
C |
6: 31,395,922 (GRCm39) |
N52T |
possibly damaging |
Het |
| Msantd5f6 |
C |
A |
4: 73,320,066 (GRCm39) |
V238L |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,770,577 (GRCm39) |
M1519L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,451 (GRCm39) |
M153T |
probably benign |
Het |
| P4ha3 |
G |
T |
7: 99,967,270 (GRCm39) |
V360L |
possibly damaging |
Het |
| Pals2 |
A |
T |
6: 50,122,847 (GRCm39) |
N31I |
possibly damaging |
Het |
| Phf14 |
T |
A |
6: 11,987,254 (GRCm39) |
D611E |
possibly damaging |
Het |
| Reep3 |
G |
T |
10: 66,870,445 (GRCm39) |
T117K |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,239,662 (GRCm39) |
N868K |
probably damaging |
Het |
| Sdcbp |
T |
G |
4: 6,385,120 (GRCm39) |
I113S |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,589,281 (GRCm39) |
V615E |
possibly damaging |
Het |
| Slc25a18 |
A |
G |
6: 120,765,249 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Uba2 |
A |
T |
7: 33,858,247 (GRCm39) |
F70I |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,703,796 (GRCm39) |
H422Q |
probably damaging |
Het |
| Vmn2r86 |
C |
T |
10: 130,282,145 (GRCm39) |
V824I |
probably benign |
Het |
| Vps50 |
A |
C |
6: 3,533,565 (GRCm39) |
T266P |
probably damaging |
Het |
| Znhit6 |
T |
A |
3: 145,284,252 (GRCm39) |
D141E |
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 |
|
|
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'- CACTGCGAGTTAGAAGCAAGCTTAATG -3'
(R):5'- GTTGCTCTACCCAGTGTCCAAATACC -3'
Sequencing Primer
(F):5'- GTAGGACTTTATAAGCATGGGTTAAG -3'
(R):5'- GGCCAGAGACTCTTCAGCATAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation