Incidental Mutation 'R5038:Pik3r1'
| ID |
393127 |
| 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 |
042628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5038 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101825952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 37
(R37Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035532]
[ENSMUST00000055518]
[ENSMUST00000185795]
[ENSMUST00000187009]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035532
AA Change: R88Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: R88Q
| 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: R358Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: R358Q
| 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 damaging
Transcript: ENSMUST00000185795
AA Change: R58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417
AA Change: R58Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
|
SH2
|
31 |
112 |
1.52e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187009
AA Change: R37Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417
AA Change: R37Q
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
10 |
93 |
6.5e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190171
|
| Meta Mutation Damage Score |
0.9704 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
94% (64/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
T |
11: 11,539,375 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
G |
T |
2: 103,397,408 (GRCm39) |
G113C |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,134,034 (GRCm39) |
T272A |
probably damaging |
Het |
| Adprs |
C |
T |
4: 126,211,102 (GRCm39) |
E272K |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,518,472 (GRCm39) |
I122S |
possibly damaging |
Het |
| B230219D22Rik |
T |
C |
13: 55,847,288 (GRCm39) |
Y134H |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,618,462 (GRCm39) |
S868P |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,926 (GRCm39) |
E302G |
probably damaging |
Het |
| Car1 |
A |
G |
3: 14,835,933 (GRCm39) |
Y129H |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,984,197 (GRCm39) |
T352A |
probably benign |
Het |
| Ckmt2 |
T |
C |
13: 92,009,282 (GRCm39) |
E215G |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,130 (GRCm39) |
|
probably null |
Het |
| Dhrs13 |
A |
G |
11: 77,923,256 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,397,901 (GRCm39) |
A34T |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,363,330 (GRCm39) |
V613A |
probably benign |
Het |
| Fam114a1 |
A |
G |
5: 65,166,388 (GRCm39) |
M240V |
probably damaging |
Het |
| Gm15455 |
T |
C |
1: 33,877,257 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
G |
9: 66,383,742 (GRCm39) |
|
probably benign |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,266 (GRCm39) |
N73D |
probably benign |
Het |
| Imp4 |
A |
T |
1: 34,482,016 (GRCm39) |
L45F |
probably damaging |
Het |
| Jak3 |
G |
A |
8: 72,138,702 (GRCm39) |
A967T |
probably damaging |
Het |
| Krtap19-2 |
A |
T |
16: 88,670,916 (GRCm39) |
Y76* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,388 (GRCm39) |
N492K |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,534,375 (GRCm39) |
R372H |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,813,140 (GRCm39) |
S16N |
probably benign |
Het |
| Nr2c2 |
A |
G |
6: 92,116,803 (GRCm39) |
T2A |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,199,232 (GRCm39) |
Y267H |
probably damaging |
Het |
| Nxph2 |
G |
A |
2: 23,211,556 (GRCm39) |
|
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,955 (GRCm39) |
D192E |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,770 (GRCm39) |
H57L |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,822 (GRCm39) |
V146E |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,975,293 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,519,083 (GRCm39) |
S38P |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,597,196 (GRCm39) |
Q35* |
probably null |
Het |
| Rps3a1 |
C |
A |
3: 86,045,338 (GRCm39) |
E251D |
probably benign |
Het |
| Scd1 |
C |
T |
19: 44,390,148 (GRCm39) |
V207M |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,607,954 (GRCm39) |
V319A |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,693,702 (GRCm39) |
Y416H |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,208,363 (GRCm39) |
T143A |
probably benign |
Het |
| Slco1a5 |
C |
T |
6: 142,212,090 (GRCm39) |
G90D |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,348 (GRCm39) |
V30A |
probably benign |
Het |
| Spdya |
T |
C |
17: 71,895,561 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,162,368 (GRCm39) |
N75I |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,807,173 (GRCm39) |
M159K |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,575 (GRCm39) |
Y89* |
probably null |
Het |
| Tmc7 |
A |
G |
7: 118,142,588 (GRCm39) |
F600S |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,981,090 (GRCm39) |
H104L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,678,984 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,419 (GRCm39) |
I70M |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,188 (GRCm39) |
M138V |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,240,116 (GRCm39) |
V550I |
probably benign |
Het |
| Zfp335 |
G |
T |
2: 164,752,564 (GRCm39) |
S60* |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,776,010 (GRCm39) |
M684T |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,839,903 (GRCm39) |
H316L |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,193,637 (GRCm39) |
Y1151N |
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 |
|
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'- TTCTGATGCAGAAGGAGGGC -3'
(R):5'- ATCCCCAGTGCAGAAGAAGG -3'
Sequencing Primer
(F):5'- AGGGCTCTCAGGATGGG -3'
(R):5'- AGAAGGGAAGCTCTGTGTGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation