Incidental Mutation 'R4422:Pik3r1'
ID |
327168 |
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 |
041695-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4422 (G1)
|
Quality Score |
195 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 101830892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 3
(N3T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140312
(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
AA Change: N3T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140312 Gene: ENSMUSG00000041417 AA Change: N3T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190171
|
Meta Mutation Damage Score |
0.1025 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (67/70) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
T |
C |
2: 26,895,412 (GRCm39) |
S1168P |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,024,046 (GRCm39) |
M142V |
probably benign |
Het |
Akna |
G |
T |
4: 63,305,330 (GRCm39) |
Q479K |
possibly damaging |
Het |
Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,511,373 (GRCm39) |
C111S |
probably null |
Het |
Bak1 |
C |
A |
17: 27,240,298 (GRCm39) |
G130W |
probably damaging |
Het |
Bank1 |
T |
A |
3: 135,788,972 (GRCm39) |
Q441L |
probably damaging |
Het |
C030034I22Rik |
T |
C |
17: 69,725,153 (GRCm39) |
|
noncoding transcript |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cct7 |
A |
G |
6: 85,444,127 (GRCm39) |
R355G |
probably damaging |
Het |
Cd19 |
C |
T |
7: 126,012,578 (GRCm39) |
V272I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,390,547 (GRCm39) |
L1095S |
probably damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,928,591 (GRCm39) |
Y148* |
probably null |
Het |
Chrnb3 |
T |
C |
8: 27,886,761 (GRCm39) |
V445A |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,467,559 (GRCm39) |
M852L |
unknown |
Het |
Dhx29 |
T |
C |
13: 113,083,781 (GRCm39) |
L612P |
probably damaging |
Het |
Dlgap2 |
T |
C |
8: 14,793,463 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,972,799 (GRCm39) |
T2045A |
possibly damaging |
Het |
Dync1li1 |
A |
G |
9: 114,538,377 (GRCm39) |
T245A |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,488,354 (GRCm39) |
E42G |
probably damaging |
Het |
Fam120b |
C |
A |
17: 15,622,445 (GRCm39) |
T141K |
probably damaging |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Gcnt2 |
T |
G |
13: 41,014,001 (GRCm39) |
Y57* |
probably null |
Het |
Gm5409 |
C |
T |
6: 41,396,519 (GRCm39) |
|
noncoding transcript |
Het |
Hip1r |
A |
G |
5: 124,135,069 (GRCm39) |
K402E |
possibly damaging |
Het |
Hlcs |
G |
A |
16: 93,939,819 (GRCm39) |
P506L |
possibly damaging |
Het |
Itih4 |
T |
A |
14: 30,611,821 (GRCm39) |
F142I |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,360,754 (GRCm39) |
D518G |
probably damaging |
Het |
Ldlr |
G |
A |
9: 21,649,248 (GRCm39) |
C341Y |
probably damaging |
Het |
Lsr |
G |
T |
7: 30,665,422 (GRCm39) |
N177K |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,359,839 (GRCm39) |
S1815F |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,503,008 (GRCm39) |
S95P |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,878,887 (GRCm39) |
L218P |
probably damaging |
Het |
Nlrp4f |
C |
T |
13: 65,332,776 (GRCm39) |
|
probably null |
Het |
Nrde2 |
G |
A |
12: 100,112,286 (GRCm39) |
Q137* |
probably null |
Het |
Or12e10 |
C |
A |
2: 87,640,989 (GRCm39) |
T275K |
probably damaging |
Het |
Or51l14 |
G |
T |
7: 103,101,450 (GRCm39) |
R302L |
probably damaging |
Het |
Or6z7 |
G |
T |
7: 6,484,037 (GRCm39) |
Y39* |
probably null |
Het |
Phf24 |
G |
A |
4: 42,934,817 (GRCm39) |
C151Y |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,542,484 (GRCm39) |
K821E |
probably benign |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Prelid2 |
T |
C |
18: 42,045,461 (GRCm39) |
T150A |
probably benign |
Het |
Psg21 |
A |
G |
7: 18,381,257 (GRCm39) |
S429P |
probably damaging |
Het |
Reg4 |
T |
C |
3: 98,140,360 (GRCm39) |
Y114H |
possibly damaging |
Het |
Rsbn1l |
G |
T |
5: 21,101,544 (GRCm39) |
H665Q |
probably damaging |
Het |
Rspo2 |
T |
C |
15: 43,033,150 (GRCm39) |
N24S |
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,731,952 (GRCm39) |
C2329* |
probably null |
Het |
Skint2 |
T |
A |
4: 112,441,785 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tmem53 |
T |
C |
4: 117,123,149 (GRCm39) |
Y37H |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,938,749 (GRCm39) |
R111W |
probably damaging |
Het |
Tnks2 |
G |
A |
19: 36,823,053 (GRCm39) |
V107I |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,019,882 (GRCm39) |
L404* |
probably null |
Het |
Vmn2r86 |
T |
C |
10: 130,288,845 (GRCm39) |
I219V |
possibly damaging |
Het |
Vsig10 |
T |
C |
5: 117,462,986 (GRCm39) |
S71P |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
Zfp871 |
T |
A |
17: 32,993,808 (GRCm39) |
S437C |
probably benign |
Het |
Zfp871 |
C |
A |
17: 32,993,807 (GRCm39) |
S456I |
probably benign |
Het |
Zfp873 |
A |
G |
10: 81,896,708 (GRCm39) |
T480A |
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 |
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'- TTTTCCACGGTCCCTGCAAG -3'
(R):5'- TTTCTTCCCCGGTGCAGTAG -3'
Sequencing Primer
(F):5'- GGAGTGTCTCCCTAATCGC -3'
(R):5'- GGACCACTTGGTAGAAGAA -3'
|
Posted On |
2015-07-07 |