Incidental Mutation 'R5117:Pik3r1'
| ID |
392702 |
| 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 |
042705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101828744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 18
(T18I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035532]
[ENSMUST00000055518]
[ENSMUST00000185795]
[ENSMUST00000187009]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035532
AA Change: T18I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: T18I
| 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
|
| 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
|
| 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 |
0.1344 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
G |
A |
9: 124,055,715 (GRCm39) |
T403I |
probably benign |
Het |
| 4921509C19Rik |
T |
C |
2: 151,314,460 (GRCm39) |
E406G |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,857,629 (GRCm39) |
E641G |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,270,010 (GRCm39) |
N49S |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,622,340 (GRCm39) |
S215P |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,323,329 (GRCm39) |
I1292F |
probably damaging |
Het |
| Card14 |
T |
A |
11: 119,229,076 (GRCm39) |
I662N |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,779,276 (GRCm39) |
K762R |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,799,837 (GRCm39) |
|
probably null |
Het |
| Erich6 |
T |
G |
3: 58,530,626 (GRCm39) |
I448L |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,019,322 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,512 (GRCm39) |
F546L |
probably benign |
Het |
| Fbxl9 |
T |
A |
8: 106,039,492 (GRCm39) |
R595* |
probably null |
Het |
| Gm10717 |
T |
C |
9: 3,025,625 (GRCm39) |
L70S |
probably benign |
Het |
| Gm11787 |
G |
T |
4: 3,509,524 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5519 |
A |
G |
19: 33,802,471 (GRCm39) |
*171W |
probably null |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,348,061 (GRCm39) |
C4902W |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,698 (GRCm39) |
N106S |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,492,809 (GRCm39) |
N125I |
possibly damaging |
Het |
| Ints9 |
G |
T |
14: 65,230,540 (GRCm39) |
E156* |
probably null |
Het |
| Kalrn |
T |
C |
16: 33,853,971 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,952 (GRCm39) |
M256K |
probably benign |
Het |
| Mapk6 |
C |
A |
9: 75,305,017 (GRCm39) |
M133I |
possibly damaging |
Het |
| Med21 |
T |
A |
6: 146,548,781 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
A |
19: 10,189,857 (GRCm39) |
E984V |
probably damaging |
Het |
| Naga |
A |
C |
15: 82,221,657 (GRCm39) |
M28R |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,608,689 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
T |
C |
10: 89,314,284 (GRCm39) |
N295D |
probably damaging |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Or13n4 |
A |
T |
7: 106,422,869 (GRCm39) |
I288N |
probably damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,709 (GRCm39) |
M123V |
probably damaging |
Het |
| Parp9 |
C |
A |
16: 35,792,202 (GRCm39) |
|
probably null |
Het |
| Pax4 |
T |
C |
6: 28,446,278 (GRCm39) |
I72V |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,090 (GRCm39) |
I542V |
probably benign |
Het |
| Pcdhgb7 |
C |
T |
18: 37,885,939 (GRCm39) |
R370W |
probably damaging |
Het |
| Ppara |
A |
G |
15: 85,661,962 (GRCm39) |
I68V |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,963,146 (GRCm39) |
I211N |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,038,028 (GRCm39) |
V715M |
probably damaging |
Het |
| Serf2 |
C |
T |
2: 121,281,184 (GRCm39) |
P41L |
possibly damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Serpinf2 |
T |
C |
11: 75,323,326 (GRCm39) |
D460G |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,045,665 (GRCm39) |
E338G |
probably damaging |
Het |
| Slc7a11 |
T |
C |
3: 50,333,599 (GRCm39) |
D384G |
probably damaging |
Het |
| Snx15 |
A |
G |
19: 6,174,181 (GRCm39) |
|
probably null |
Het |
| Supt16 |
A |
G |
14: 52,420,549 (GRCm39) |
F84L |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,128,418 (GRCm39) |
D152G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,668,121 (GRCm39) |
Y881C |
probably damaging |
Het |
| Tm9sf2 |
C |
A |
14: 122,380,913 (GRCm39) |
Q169K |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,142,832 (GRCm39) |
V228E |
probably benign |
Het |
| Triqk |
T |
A |
4: 12,980,390 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,795,631 (GRCm39) |
I1155N |
possibly damaging |
Het |
| Ube3b |
T |
G |
5: 114,557,692 (GRCm39) |
Y1059D |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,961 (GRCm39) |
T652A |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,718,798 (GRCm39) |
V304A |
probably benign |
Het |
| Wwp2 |
T |
C |
8: 108,280,694 (GRCm39) |
S646P |
possibly damaging |
Het |
| Zfand5 |
T |
A |
19: 21,257,009 (GRCm39) |
S130T |
probably benign |
Het |
| Zfp599 |
A |
T |
9: 22,161,396 (GRCm39) |
Y256* |
probably null |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,642,197 (GRCm39) |
I1209L |
possibly 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 |
|
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'- CTACAGGCAGGCAAAGAGTC -3'
(R):5'- AATAGGTTACAGTGCGGGC -3'
Sequencing Primer
(F):5'- AATTTTAAACCGTGAAACACATCAG -3'
(R):5'- TACAGTGCGGGCCGTATAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation