Incidental Mutation 'R3876:Pik3r1'
ID |
276866 |
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 |
041606-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3876 (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 101821465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 430
(H430Y)
|
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: H430Y
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000047004 Gene: ENSMUSG00000041417 AA Change: H430Y
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
AA Change: H700Y
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000056774 Gene: ENSMUSG00000041417 AA Change: H700Y
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 |
|
Meta Mutation Damage Score |
0.0992 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (53/53) |
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 |
4931414P19Rik |
G |
A |
14: 54,828,857 (GRCm39) |
R215* |
probably null |
Het |
Brinp2 |
C |
A |
1: 158,074,416 (GRCm39) |
L568F |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,043,616 (GRCm39) |
Y316C |
probably damaging |
Het |
Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
Cfap69 |
G |
T |
5: 5,634,645 (GRCm39) |
|
probably benign |
Het |
Chrnb4 |
T |
C |
9: 54,951,182 (GRCm39) |
E27G |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,430 (GRCm39) |
V64A |
possibly damaging |
Het |
Crygs |
A |
G |
16: 22,625,262 (GRCm39) |
Y60H |
probably damaging |
Het |
Dpp10 |
T |
A |
1: 123,281,216 (GRCm39) |
Q611L |
probably damaging |
Het |
Entpd1 |
T |
C |
19: 40,725,264 (GRCm39) |
L450P |
probably damaging |
Het |
Eogt |
G |
A |
6: 97,097,151 (GRCm39) |
S317L |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,657,376 (GRCm39) |
S584T |
probably benign |
Het |
Fam184a |
C |
T |
10: 53,575,157 (GRCm39) |
V151I |
probably damaging |
Het |
Fbxo43 |
A |
G |
15: 36,152,258 (GRCm39) |
V517A |
probably damaging |
Het |
Flii |
T |
C |
11: 60,610,698 (GRCm39) |
T533A |
possibly damaging |
Het |
Frmpd1 |
T |
G |
4: 45,284,093 (GRCm39) |
H971Q |
probably benign |
Het |
Gata3 |
A |
T |
2: 9,867,954 (GRCm39) |
N333K |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,815,513 (GRCm39) |
S1525P |
probably damaging |
Het |
Ibtk |
A |
G |
9: 85,600,479 (GRCm39) |
I816T |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt34 |
T |
C |
11: 99,931,791 (GRCm39) |
T143A |
probably benign |
Het |
Lipn |
G |
T |
19: 34,046,828 (GRCm39) |
M43I |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
Mios |
G |
A |
6: 8,233,189 (GRCm39) |
R779Q |
probably damaging |
Het |
Mme |
A |
T |
3: 63,269,480 (GRCm39) |
|
probably benign |
Het |
Ncstn |
A |
G |
1: 171,897,640 (GRCm39) |
S418P |
probably benign |
Het |
Oprk1 |
T |
A |
1: 5,672,884 (GRCm39) |
C340* |
probably null |
Het |
Or10d1c |
T |
A |
9: 38,894,166 (GRCm39) |
Y58F |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,739,952 (GRCm39) |
T262A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,238,967 (GRCm39) |
V69A |
possibly damaging |
Het |
Or6c210 |
C |
T |
10: 129,496,143 (GRCm39) |
P156L |
probably benign |
Het |
Or6z7 |
G |
A |
7: 6,484,131 (GRCm39) |
A8V |
probably benign |
Het |
Pald1 |
T |
A |
10: 61,183,266 (GRCm39) |
N323Y |
probably damaging |
Het |
Pcdhac1 |
C |
A |
18: 37,224,945 (GRCm39) |
A586E |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,614,897 (GRCm39) |
A185T |
probably benign |
Het |
Polr3b |
G |
A |
10: 84,556,382 (GRCm39) |
|
probably null |
Het |
Prl8a6 |
A |
T |
13: 27,617,015 (GRCm39) |
L225* |
probably null |
Het |
Psme4 |
T |
C |
11: 30,806,068 (GRCm39) |
S89P |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,248,113 (GRCm39) |
T250I |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,016,528 (GRCm39) |
K72* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,603,045 (GRCm39) |
I4514F |
probably damaging |
Het |
Septin3 |
A |
T |
15: 82,170,002 (GRCm39) |
D32V |
probably damaging |
Het |
Sfrp2 |
C |
T |
3: 83,674,335 (GRCm39) |
P163S |
possibly damaging |
Het |
Spata31 |
A |
G |
13: 65,068,745 (GRCm39) |
T298A |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,683,369 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
T |
10: 5,002,345 (GRCm39) |
M282K |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,561,847 (GRCm39) |
|
probably null |
Het |
Tlr11 |
G |
A |
14: 50,600,611 (GRCm39) |
V866I |
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,056,020 (GRCm39) |
|
probably null |
Het |
Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
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 |
|
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 |
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'- TCCAAGAAAGCTCTAGTCCCATG -3'
(R):5'- ACCCTGCAGCATTCCAGATC -3'
Sequencing Primer
(F):5'- GAAAGCTCTAGTCCCATGTGCAG -3'
(R):5'- TGCAGCATTCCAGATCATCTG -3'
|
Posted On |
2015-04-06 |