Incidental Mutation 'R3015:Pik3r1'
ID |
257652 |
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 |
040536-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3015 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101823771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 538
(I538T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035532]
[ENSMUST00000055518]
[ENSMUST00000185795]
[ENSMUST00000187009]
|
AlphaFold |
P26450 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035532
AA Change: I268T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047004 Gene: ENSMUSG00000041417 AA Change: I268T
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: I538T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056774 Gene: ENSMUSG00000041417 AA Change: I538T
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 |
0.1793 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (38/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Ifrd2 |
G |
A |
9: 107,467,221 (GRCm39) |
G60S |
probably null |
Het |
Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
Matn3 |
A |
C |
12: 9,002,217 (GRCm39) |
Q143P |
probably damaging |
Het |
Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
Pax2 |
T |
C |
19: 44,804,463 (GRCm39) |
F268L |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
Ppme1 |
T |
C |
7: 99,981,084 (GRCm39) |
H352R |
probably damaging |
Het |
Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
Rapgef4 |
T |
C |
2: 72,028,717 (GRCm39) |
I378T |
probably damaging |
Het |
Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Umod |
T |
C |
7: 119,071,763 (GRCm39) |
D326G |
probably damaging |
Het |
Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
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 |
|
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 |
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'- TTAGCCACTGCCAAGTCTTC -3'
(R):5'- CAAGAGGCTCCCGTTATCCTTG -3'
Sequencing Primer
(F):5'- ACTGCCAAGTCTTCGGGTTC -3'
(R):5'- CCCGTTATCCTTGTGACAGAAAGTG -3'
|
Posted On |
2015-01-11 |