Incidental Mutation 'R3964:Pik3r1'
| ID |
312274 |
| 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 |
040933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101825193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 458
(E458G)
|
| 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: E188G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: E188G
| 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 |
possibly damaging
Transcript: ENSMUST00000055518
AA Change: E458G
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: E458G
| 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: E137G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417
AA Change: E137G
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
10 |
93 |
6.5e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190171
|
| Meta Mutation Damage Score |
0.1210 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (64/65) |
| 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 |
|---|
| Adam21 |
C |
A |
12: 81,607,583 (GRCm39) |
A60S |
possibly damaging |
Het |
| Arpp21 |
C |
G |
9: 111,894,844 (GRCm39) |
V805L |
probably damaging |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,474,187 (GRCm39) |
T686S |
probably benign |
Het |
| Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,913,321 (GRCm39) |
K188E |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
| Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
| Dhx57 |
T |
A |
17: 80,572,541 (GRCm39) |
K711* |
probably null |
Het |
| Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Gadl1 |
T |
C |
9: 115,794,676 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
| Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
G |
15: 63,721,683 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,449,320 (GRCm39) |
T110A |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,443,281 (GRCm39) |
T274I |
probably benign |
Het |
| Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
| Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,202,482 (GRCm39) |
|
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Mrs2 |
A |
G |
13: 25,185,746 (GRCm39) |
I142T |
possibly damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,420,705 (GRCm39) |
I4191F |
possibly damaging |
Het |
| Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,346,469 (GRCm39) |
S875N |
probably benign |
Het |
| Nmi |
T |
C |
2: 51,846,081 (GRCm39) |
E67G |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,729 (GRCm39) |
T224A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,979 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,254 (GRCm39) |
Q362L |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,167,263 (GRCm39) |
E222K |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,665,651 (GRCm39) |
F284I |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,250,754 (GRCm39) |
D478E |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,978,073 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,298,785 (GRCm39) |
I315T |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
G |
A |
3: 57,676,533 (GRCm39) |
G63S |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,981,644 (GRCm39) |
Q498L |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,093 (GRCm39) |
I151V |
probably benign |
Het |
| Snx27 |
T |
A |
3: 94,438,613 (GRCm39) |
R207S |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,523 (GRCm39) |
E975G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,660,523 (GRCm39) |
S98P |
probably damaging |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,375,228 (GRCm39) |
V818E |
probably damaging |
Het |
| Wdr38 |
A |
G |
2: 38,889,362 (GRCm39) |
Y51C |
probably damaging |
Het |
| Zfp456 |
T |
C |
13: 67,514,900 (GRCm39) |
T269A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,924,744 (GRCm39) |
S989P |
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 |
|
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'- GTAACACTGCGAGTTAGAAGC -3'
(R):5'- GGTTTTGACAAACTTTACACCCTG -3'
Sequencing Primer
(F):5'- CTGCGAGTTAGAAGCAAGCTTAATG -3'
(R):5'- TTTGACAAACTTTACACCCTGACCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation