Incidental Mutation 'R7507:Pik3r1'
| ID |
581863 |
| 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 |
045580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7507 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101845490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 147
(S147L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055518
AA Change: S147L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: S147L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
| BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
| Clint1 |
C |
A |
11: 45,799,776 (GRCm39) |
Q512K |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
| Igkv4-80 |
G |
T |
6: 68,993,677 (GRCm39) |
S71R |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,855,429 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
| Nos3 |
T |
C |
5: 24,577,642 (GRCm39) |
M552T |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
| Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,107 (GRCm39) |
Y31H |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
| Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
| Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
| Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
| Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
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 |
|
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 |
|
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'- AGGAACTCCTGCATGTGAGTTG -3'
(R):5'- AGATCCTGCTCTTTAATAGTCCAC -3'
Sequencing Primer
(F):5'- CCTGCATGTGAGTTGGAAATCCC -3'
(R):5'- GCTCTTTAATAGTCCACTGGATTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation